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Charis Eng

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Brandie Heald; Matthew F Kalady; Xiuli Liu; Jessica Moline; Rish Pai; Deepa Patil; Thomas Plesec; Richard R Sharp; Carol A Burke; James Church; Charis Eng
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
Yu Wang; Xin He; Donna M Peehl; Deepa Radhakrishnan; Charis Eng
Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation.
Mohammed S Orloff; Charissa Peterson; Fusong Chen; Jin-Lian Chen; Xin He; Jessica L Mester; Charis Eng
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

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2013: Brandie Heald; Matthew F Kalady; Xiuli Liu; Jessica Moline; Rish Pai; Deepa Patil; Thomas Plesec; Richard R Sharp; Carol A Burke; James Church; Charis Eng
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013;31(10):1336-40.
2013: Yu Wang; Xin He; Donna M Peehl; Deepa Radhakrishnan; Charis Eng
Transcription factor KLLN inhibits tumor growth by AR suppression, induces apoptosis by TP53/TP73 stimulation in prostate carcinomas, and correlates with cellular differentiation.
The Journal of clinical endocrinology and metabolism 2013;98(3):E586-94.
2013: Mohammed S Orloff; Charissa Peterson; Fusong Chen; Jin-Lian Chen; Xin He; Jessica L Mester; Charis Eng
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
American journal of human genetics 2013;92(1):76-80.
2012: Cheryl M Lewis; Linda Robinson; Venetia Sarode; Rebecca K Viscusi; Kathleen S Wilson; Dawei Bu; Charis Eng; David M Euhus
The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome.
Breast cancer research and treatment 2012;136(3):911-8.
2012: Joanne Ngeow; Mohammed S Orloff; Todd Romigh; Xin He; Junying Lei; Jessica L Mester; Mira Milas; Charis Eng
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
The Journal of clinical endocrinology and metabolism 2012;97(12):E2320-7.
2012: Xin He; Joanne Ngeow; Deepa Radhakrishnan; Matthew D Ringel; Todd Romigh; Motoyasu Saji; Yu Wang; Qi Yu; Charis Eng
PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.
The Journal of clinical endocrinology and metabolism 2012;97(11):E2179-87.
2012: Wouter W de Herder; Charis Eng
Obesity, diabetes mellitus, and cancer.
Endocrine-related cancer 2012;19(5):E5-7.
2012: Ying Ni; Charis Eng
Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants.
Clinical cancer research : an official journal of the American Association for Cancer Research 2012;18(18):4954-61.
2012: Jessica Mester; Charis Eng
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(9):819-22.
2012: Margaret O'Malley; Joseph Parambil; James Church; Charis Eng; Brandie Heald; Matthew F Kalady; Lisa LaGuardia; Carol A Burke
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.
Diseases of the colon and rectum 2012;55(8):886-92.
2012: Anne M Deschamps; Charis Eng
Engaging basic scientists in translational research.
Endocrine-related cancer 2012;19(3):E1-3.
2012: Angelica Malinoc; Alexander Bosse; Serdar Deger; Charis Eng; Michael M Hoffmann; Cordula Jilg; Schmid Kurt Werner; Gerd Rasp; Joern Straeter; Maren Sullivan; Thorsten Wiech; Hartmut P H Neumann
Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.
Endocrine-related cancer 2012;19(3):283-90.
2012: Judith A Hobert; Jessica L Mester; Jessica Moline; Charis Eng
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(6):616-9.
2012: Kyle C Kurek; John B Mulliken; Antonio R Perez-Atayde; L B Tennant; Cameron C Trenor; Joseph Upton; Ahmad I Alomari; Patricia E Burrows; Kim Chalache; Charis Eng; Steven J Fishman; David J Harris; Emily Howard; Harry P W Kozakewich
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.
The American journal of surgical pathology 2012;36(5):671-87.
2012: Jessica L Mester; Nichole Prescott; Ming Zhou; Charis Eng
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.
Urology 2012;79(5):1187.e1-7.
2012: Brandie Heald; Emily Edelman; Charis Eng
Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers.
European journal of human genetics : EJHG 2012;20(5):547-51.
2012: Kathryn Teng; Charis Eng; Caryl A Hess; Meredith A Holt; Rocio T Moran; Richard R Sharp; Elias I Traboulsi
Building an innovative model for personalized healthcare.
Cleveland Clinic journal of medicine 2012;79 Suppl 1():S1-9.
2012: Min-Han Tan; Robert Wesolowski; Mohammed S Orloff; George R Stark; Gurkan Bebek; G Thomas Budd; Sarmishtha De; Erinn Downs-Kelly; Charis Eng
Specific kinesin expression profiles associated with taxane resistance in basal-like breast cancer.
Breast cancer research and treatment 2012;131(3):849-58.
2012: Hartmut P H Neumann; Peter Riegler; Elke Schaeffner; Klaus Zerres; Pablo J Azurmendi; Janina Bacher; Nadine Ortiz Bruechle; Christian Burchardi; Charis Eng; Michael M Hoffmann; Vera Ivanovas; Cordula Jilg; Annette Kraemer-Guth; Irina Mader; Angelica Malinoc; Rodolfo S Martin; Zinaida Nabulsi; Sven Gläsker
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Cerebrovascular diseases extra 2012;2(1):71-9.
2012: Megan Doerr; Charis Eng
Personalised care and the genome.
BMJ (Clinical research ed.) 2012;344():e3174.
2012: Sari Tuupanen; Jian Yan; Hassan Askhtorab; Daniel A Culver; ALBERT DE LA CHAPELLE; Nathan Ellis; Charis Eng; Alexandra E Gylfe; Christopher A Haiman; Heather Hampel; Sampsa Hautaniemi; Brian E Henderson; Eevi Kaasinen; Matthew F Kalady; Temitope Keku; Sonia S Kupfer; Loic Le Marchand; Li Li; Upender Manne; Boris Pasche; Michael J Pennison; Robert S Sandler; DUANE SMOOT; Jussi Taipale; Mikko Turunen; Lauri A Aaltonen
Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.
Cancer genetics 2012;205(1-2):25-33.
2012: Mohammed S Orloff; Li Zhang; Gurkan Bebek; Charis Eng
Integrative genomic analysis reveals extended germline homozygosity with lung cancer risk in the PLCO cohort.
PloS one 2012;7(2):e31975.
2011: Joanne Ngeow; Ying Ni; Lisa A Rybicki; Jessica Mester; Mira Milas; Charis Eng
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
The Journal of clinical endocrinology and metabolism 2011;96(12):E2063-71.
2011: Shanna L Gustafson; Gail Pfeiffer; Charis Eng
A large health system's approach to utilization of the genetic counselor CPT® 96040 code.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(12):1011-4.
2011: Maren Sullivan; Thorsten Wiech; Aurelia Winter; Magdalena Woznowski; Martin Zeier; Ludwig Patzer; Stefanie Reiermann; Lisa A Rybicki; Klaus Arbeiter; Gani Berisha; Andreas Bock; Klemens Budde; Charis Eng; Thomas Fehr; Ariana Gaspert; Oemer-Necmi Goek; Michael M Hoffmann; Bernd Hoppe; Karl Lhotta; Hannah Linke; Angelica Malinoc; Hartmut P H Neumann
Age-related penetrance of hereditary atypical hemolytic uremic syndrome.
Annals of human genetics 2011;75(6):639-47.
2011: Y Wang; X He; W D Heston; M S Orloff; T Romigh; R H Silverman; Min-Han Tan; Charis Eng
Differential regulation of PTEN expression by androgen receptor in prostate and breast cancers.
Oncogene 2011;30(42):4327-38.
2011: Hartmut P H Neumann; Kurt W Schmid; Maren Sullivan; Martin K Walz; Aurelia Winter; Hartmut Bertz; Carsten Christof Boedeker; Michael M Hoffmann; Angelica Malinoc; Lars C Moeller; Charis Eng
Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.
The Journal of clinical endocrinology and metabolism 2011;96(8):E1279-82.
2011: Kristi L Bennett; Rebecca Campbell; Ram Ganapathi; Shireen Ganapathi; Hartmut P H Neumann; Brian Rini; Ming Zhou; Charis Eng
Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma.
Genes, chromosomes & cancer 2011;50(8):654-61.
2011: Mohammed Orloff; Charissa Peterson; Todd Romigh; Jee Hoon Song; Wenjing Wu; Yi-ran Yang; Gurkan Bebek; Yulan Cheng; Stefan David; Shireen Ganapathi; Xin He; Brandie Heald; Meltzer Stephen J.; Charis Eng
Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.
JAMA : the journal of the American Medical Association 2011;306(4):410-9.
2011: Jessica L Mester; Lisa A Rybicki; Amanda K Tilot; Thomas W Frazier; Charis Eng
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.
European journal of human genetics : EJHG 2011;19(7):763-8.
2011: Rebecca Nagy; Shireen Ganapathi; Ilene Comeras; Charissa Peterson; Mohammed Orloff; Kyle Porter; Charis Eng; Matthew D Ringel; Richard T Kloos
Frequency of germline PTEN mutations in differentiated thyroid cancer.
Thyroid : official journal of the American Thyroid Association 2011;21(5):505-10.
2011: Min-Han Tan; Charis Eng
Testicular microlithiasis: recent advances in understanding and management.
Nature reviews. Urology 2011;8(3):153-63.
2011: Laura von Dücker; Martin K Walz; Christian Voss; Georg Arnold; Charis Eng; Hartmut P H Neumann
Laparoscopic organ-sparing resection of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
World journal of surgery 2011;35(3):563-7.
2011: Xin He; Yu Wang; Jinhong Zhu; Mohammed Orloff; Charis Eng
Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling.
Cancer letters 2011;301(2):168-76.
2011: Matthew F Kalady; Awad Jarrar; Brandie Leach; Lisa LaGuardia; Margaret O'Malley; Charis Eng; James M Church
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome.
Diseases of the colon and rectum 2011;54(2):164-70.
2011: Min-Han Tan; Jessica Mester; Charissa Peterson; Yiran Yang; Jin-Lian Chen; Lisa A Rybicki; Kresimira Milas; Holly Pederson; Berna Remzi; Mohammed S Orloff; Charis Eng
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
American journal of human genetics 2011;88(1):42-56.
2011: Jessica Moline; Joanne Ngeow; prabhakar rajiah; Charis Eng
Evil lurks in the heart of man: cardiac paraganglioma presenting as recurrent dyspnoea and chronic cough.
BMJ case reports 2011;2011():.
2011: Gurkan Bebek; Mohammed Orloff; Charis Eng
Microenvironmental genomic alterations reveal signaling networks for head and neck squamous cell carcinoma.
Journal of clinical bioinformatics 2011;1(1):21.
2011: Virginia Torres; Pierre L Triozzi; Charis Eng; Raymond Tubbs; Lynn Schoenfiled; John W Crabb; Yogen Saunthararajah; Arun D Singh
Circulating tumor cells in uveal melanoma.
Future oncology (London, England) 2011;7(1):101-9.
2011: Xin He; Ying Ni; Yu Wang; Todd Romigh; Charis Eng
Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.
Human molecular genetics 2011;20(1):80-9.
2010: Kristi L Bennett; Jessica Mester; Charis Eng
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
JAMA : the journal of the American Medical Association 2010;304(24):2724-31.
2010: Charis Eng
Mendelian genetics of rare--and not so rare--cancers.
Annals of the New York Academy of Sciences 2010;1214():70-82.
2010: Brandie Heald; Jessica Mester; Lisa Rybicki; Mohammed S Orloff; Carol A Burke; Charis Eng
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Gastroenterology 2010;139(6):1927-33.
2010: Nic Waddell; Jeremy Arnold; Sibylle Cocciardi; Leonard da Silva; Anna Marsh; Joan Riley; Cameron N Johnstone; Mohammed Orloff; Guillaume Assie; Charis Eng; Lynne Reid; Patricia Keith; Max Yan; Stephen Fox; Peter Devilee; Andrew K Godwin; Frans B L Hogervorst; Fergus J. Couch; Sean M Grimmond; James M Flanagan; Kumkum Khanna; Peter T Simpson; Sunil R Lakhani; Georgia Chenevix-Trench
Subtypes of familial breast tumours revealed by expression and copy number profiling.
Breast cancer research and treatment 2010;123(3):661-77.
2010: Thomas Frazier; Eric Youngstrom; Leslie Sinclair; Cynthia S Kubu; Paul Law; Ali R Rezai; John N Constantino; Charis Eng
Autism spectrum disorders as a qualitatively distinct category from typical behavior in a large, clinically ascertained sample.
Assessment 2010;17(3):308-20.
2010: Charis Eng
Common alleles of predisposition in endocrine neoplasia.
Current opinion in genetics & development 2010;20(3):251-6.
2010: M Via; A De Giacomo; Harriet Corvol; Charis Eng; M A Seibold; C Gillett; J Galanter; S Sen; H Tcheurekdjian; Rocio Chapela; J R Rodríguez-Santana; William Rodríguez-Cintrón; S Thyne; Pedro C Avila; Shweta Choudhry; E González Burchard
The role of LTA4H and ALOX5AP genes in the risk for asthma in Latinos.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2010;40(4):582-9.
2010: Kristi L Bennett; Walter Lee; Eric Lamarre; Xiatong Zhang; Rahul Seth; Joseph Scharpf; Jennifer Hunt; Charis Eng
HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas.
Genes, chromosomes & cancer 2010;49(4):319-26.
2010: Hui Wang; Matt Karikomi; Shan Naidu; Ravi Rajmohan; Enrico Caserta; Hui-Zi Chen; Maysoon Rawahneh; Julie Moffitt; Julie A Stephens; Soledad A Fernandez; Michael Weinstein; Danxin Wang; Wolfgang Sadee; Krista La Perle; Paul Stromberg; Thomas J Rosol; Charis Eng; Michael C Ostrowski; Gustavo Leone
Allele-specific tumor spectrum in pten knockin mice.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(11):5142-7.
2010: Charis Eng; Richard R Sharp
Bioethical and clinical dilemmas of direct-to-consumer personal genomic testing: the problem of misattributed equivalence.
Science translational medicine 2010;2(17):17cm5.
2010: Zoran Erlic; Michael M Hoffmann; Maren Sullivan; Gerlind Franke; Mariola Peczkowska; Igor Harsch; Matthias Schott; Helmut E Gabbert; Matti Valimäki; Simon F Preuss; Kornelia Hasse-Lazar; Dariusz Waligorski; Mercedes Robledo; Andrzej Januszewicz; Charis Eng; Hartmut P H Neumann
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.
The Journal of clinical endocrinology and metabolism 2010;95(1):308-13.
2009: Kristi L Bennett; Todd Romigh; Charis Eng
Disruption of transforming growth factor-beta signaling by five frequently methylated genes leads to head and neck squamous cell carcinoma pathogenesis.
Cancer research 2009;69(24):9301-5.
2009: Zoran Erlic; Lisa Rybicki; Mariola Peczkowska; Henriette Golcher; Peter H Kann; Michael Brauckhoff; Karsten Müssig; Michaela Muresan; Andreas Schäffler; Nicole Reisch; Matthias Schott; Martin Fassnacht; Giuseppe Opocher; Silke Klose; Christian Fottner; Flavio Forrer; Ursula Plöckinger; Stephan Petersenn; Dimitry Zabolotny; Oleg Kollukch; Svetlana Yaremchuk; Andrzej Januszewicz; Martin Walz; Charis Eng; Hartmut P H Neumann
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.
Clinical cancer research : an official journal of the American Association for Cancer Research 2009;15(20):6378-85.
2009: Tanios Bekaii-Saab; Joseph Markowitz; Nichole Prescott; Wolfgang Sadee; Nyla A Heerema; Lai Wei; Zunyan Dai; Audrey Papp; Angela Campbell; Kristy Culler; Catherine Balint; Bert O Neil; Ruey-Min Lee; Mark M Zalupski; Janet Dancey; Helen Chen; Michael R Grever; Charis Eng; Miguel A Villalona-Calero
A multi-institutional phase II study of the efficacy and tolerability of lapatinib in patients with advanced hepatocellular carcinomas.
Clinical cancer research : an official journal of the American Association for Cancer Research 2009;15(18):5895-901.
2009: Charis Eng; Gustavo Leone; Mohammed S Orloff; Michael C Ostrowski
Genomic alterations in tumor stroma.
Cancer research 2009;69(17):6759-64.
2009: Hartmut P H Neumann; Charis Eng
The approach to the patient with paraganglioma.
The Journal of clinical endocrinology and metabolism 2009;94(8):2677-83.
2009: Abraham I Jacob; Todd Romigh; Kristin A Waite; Charis Eng
Nuclear PTEN levels and G2 progression in melanoma cells.
Melanoma research 2009;19(4):203-10.
2009: Glenn P Lobo; Kristin A Waite; SM Planchon; Todd Romigh; Najah T Nassif; Charis Eng
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.
Human molecular genetics 2009;18(15):2851-62.
2009: Richard T Kloos; Charis Eng; Douglas B Evans; Gary L Francis; Robert F Gagel; Hossein Gharib; Jeffrey F Moley; Furio Pacini; Matthew D Ringel; Martin Schlumberger; Samuel A Wells
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
Thyroid : official journal of the American Thyroid Association 2009;19(6):565-612.
2009: Carsten Christof Boedeker; Zoran Erlic; Stéphane Richard; Udo Kontny; Anne-Paule Gimenez-Roqueplo; Alberto Cascon; Mercedes Robledo; José M de Campos; Francien H van Nederveen; Ronald R de Krijger; Nelly Burnichon; José Gaal; Martin A Walter; Kirsten Reschke; Thorsten Wiech; Johannes Weber; Klaus Dieter Rückauer; Pierre Francois Plouin; Vincent Darrouzet; Sophie Giraud; Charis Eng; Hartmut P H Neumann
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
The Journal of clinical endocrinology and metabolism 2009;94(6):1938-44.
2009: Elliott D Crouser; Daniel Culver; Kenneth S Knox; Mark W Julian; Guohong Shao; Susamma Abraham; Sandya Liyanarachchi; Jennifer E Macre; Mark D Wewers; Mikhail Gavrilin; Patrick Ross; Abbas Abbas; Charis Eng
Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis.
American journal of respiratory and critical care medicine 2009;179(10):929-38.
2009: Yongzhong Zhao; Michael Marotta; Evan E Eichler; Charis Eng; Hisashi Tanaka
Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes.
PLoS genetics 2009;5(5):e1000472.
2009: Hartmut P H Neumann; Zoran Erlic; Carsten C Boedeker; Lisa A Rybicki; Mercedes Robledo; Mario Hermsen; Francesca Schiavi; Maurizio Falcioni; Pingling Kwok; Catherine Bauters; Karen Lampe; Markus Fischer; Emily Edelman; Diana E Benn; Bruce G Robinson; Stefanie Wiegand; Gerd Rasp; Boris A Stuck; Michael M Hoffmann; Maren Sullivan; Maria A Sevilla; Janneke Weiss; Mariola Peczkowska; Agata Kubaszek; Pascal Pigny; Robyn L Ward; Diana Learoyd; Michael Croxson; Dmitry Zabolotny; Svetlana Yaremchuk; Wolfgang Draf; Mihaela Muresan; Robert R Lorenz; Stephan Knipping; Michael Strohm; Gerhard Dyckhoff; Christoph Matthias; Nicole Reisch; Simon F Preuss; Dirk Esser; Martin A Walter; Holger Kaftan; Timo Stöver; Christian Fottner; Harald Gorgulla; Mahdi Malekpour; Masoud Motasaddi Zarandy; Jörg Schipper; Christoph Brase; Alexander Glien; Matthias Kühnemund; Sven Koscielny; Peter Schwerdtfeger; Matti Välimäki; Witold Szyfter; Ulrich Finckh; Klaus Zerres; Alberto Cascon; Giuseppe Opocher; Gerd Jürgen Ridder; Andrzej Januszewicz; Carlos Suarez; Charis Eng
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
Cancer research 2009;69(8):3650-6.
2009: Kristi L Bennett; Todd Romigh; Khelifa Arab; Rosemary E Teresi; Yasuhiro Tada; Charis Eng; Christoph Plass
Activator protein 2 alpha (AP2alpha) suppresses 42 kDa C/CAAT enhancer binding protein alpha (p42(C/EBPalpha)) in head and neck squamous cell carcinoma.
International journal of cancer. Journal international du cancer 2009;124(6):1285-92.
2009: Ming-Chieh Lin; Lesley Lomo; Jan P A Baak; Charis Eng; Tan Ince; Christopher P Crum; George L Mutter
Squamous morules are functionally inert elements of premalignant endometrial neoplasia.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2009;22(2):167-74.
2009: A I Jacob; K A Waite; Charis Eng
Cost-effective method for growing three-dimensional cell cultures in extracellular matrix extract.
Biotechnic & histochemistry : official publication of the Biological Stain Commission 2009;84(1):25-8.
2009: Kristi L Bennett; Todd Romigh; Charis Eng
AP-2alpha induces epigenetic silencing of tumor suppressive genes and microsatellite instability in head and neck squamous cell carcinoma.
PloS one 2009;4(9):e6931.
2008: Mariola Peczkowska; Zoran Erlic; Michael M Hoffmann; Mariusz Furmanek; Jaroslaw Cwikla; Agata Kubaszek; Aleksander Prejbisz; Zbigniew Szutkowski; Andrzej Kawecki; Krzysztof Chojnowski; Anna Lewczuk; Mieczyslaw Litwin; Witold Szyfter; Martin A Walter; Maren Sullivan; Charis Eng; Andrzej Januszewicz; Hartmut P H Neumann
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
The Journal of clinical endocrinology and metabolism 2008;93(12):4818-25.
2008: Ioana N Milos; Karin Frank-Raue; Nelson Wohllk; Ana Luiza Maia; Eduardo Pusiol; Attila Patocs; Mercedes Robledo; Josefina Biarnes; Marta Barontini; Thera P Links; Jan Willem de Groot; Sarka Dvorakova; Mariola Peczkowska; Lisa A Rybicki; Maren Sullivan; Friedhelm Raue; Ioana Zosin; Charis Eng; Hartmut P H Neumann
Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation.
Endocrine-related cancer 2008;15(4):1035-41.
2008: Charis Eng
Microenvironmental protection in diffuse large-B-cell lymphoma.
The New England journal of medicine 2008;359(22):2379-81.
2008: Miguel A Villalona-Calero; Gregory A Otterson; M Guillaume Wientjes; F Weber; Tanios Bekaii-Saab; Donn Young; Anthony J Murgo; Rhonda Jensen; Teng-Kuang Yeh; Y Wei; Y Zhang; Charis Eng; Michael R Grever; Jessie L-S Au
Noncytotoxic suramin as a chemosensitizer in patients with advanced non-small-cell lung cancer: a phase II study.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2008;19(11):1903-9.
2008: Charis Eng
Cancer: A ringleader identified.
Nature 2008;455(7215):883-4.
2008: Christina M Rigelsky; Constance Jennings; Rainer Lehtonen; Omar A Minai; Charis Eng; Micheala A Aldred
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia.
American journal of medical genetics. Part A 2008;146A(19):2551-6.
2008: M S Orloff; Charis Eng
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
Oncogene 2008;27(41):5387-97.
2008: lobo glenn; Kristin A Waite; Sarah M Planchon; Todd Romigh; Janet A Houghton; Charis Eng
ATP modulates PTEN subcellular localization in multiple cancer cell lines.
Human molecular genetics 2008;17(18):2877-85.
2008: Charis Eng
SDHB--a gene for all tumors?
Journal of the National Cancer Institute 2008;100(17):1193-5.
2008: Ying Ni; Kevin M Zbuk; Tammy Sadler; Attila Patocs; Glenn Lobo; Emily Edelman; Petra Platzer; Mohammed S Orloff; Kristin A Waite; Charis Eng
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
American journal of human genetics 2008;83(2):261-8.
2008: Mee-Yon Cho; Hyun Soo Kim; Charis Eng; Dae Sung Kim; Seong Joon Kang; Minseob Eom; Sang Yeop Yi; Mary P Bronner
First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity.
The American journal of surgical pathology 2008;32(8):1258-64.
2008: Sharon E Plon; Michael L Pirics; Jed Nuchtern; John Hicks; Heidi Russell; Shipra Agrawal; Kevin Zbuk; Charis Eng; Madhuri Hegde; Ephrem Lip Hon Chin
Multiple tumors in a child with germ-line mutations in TP53 and PTEN.
The New England journal of medicine 2008;359(5):537-9.
2008: Taru Ahvenainen; Heli J Lehtonen; Rainer Lehtonen; Pia Vahteristo; Kristiina Aittomäki; Gareth Baynam; Charlotte Dommering; Charis Eng; Stephen B Gruber; Henrik Grönberg; Rauno Harvima; Riitta Herva; Marja Hietala; Minna Kujala; Helena Kääriäinen; Lone Sunde; Outi Vierimaa; Patrick J Pollard; Ian P M Tomlinson; Erik Björck; Lauri A Aaltonen; Virpi Launonen
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Cancer genetics and cytogenetics 2008;183(2):83-8.
2008: Marcus Pezzolesi; Petra Platzer; Kristin A Waite; Charis Eng
Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome.
American journal of human genetics 2008;82(5):1141-9.
2008: Marta S Sarquis; Leticia G Silveira; Flavio J Pimenta; Eduardo P Dias; Bin Tean Teh; Eitan Friedman; Ricardo Santiago Gomez; Gabriela Tavares; Charis Eng; Luiz De Marco
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.
Surgery 2008;143(5):630-40.
2008: Pierre L Triozzi; Charis Eng; Arun D Singh
Targeted therapy for uveal melanoma.
Cancer treatment reviews 2008;34(3):247-58.
2008: Jianguang Ji; Charis Eng; Kari Hemminki
Familial risk for soft tissue tumors: a nation-wide epidemiological study from Sweden.
Journal of cancer research and clinical oncology 2008;134(5):617-24.
2008: Pia Alhopuro; Denis Phichith; Sari Tuupanen; Heli Sammalkorpi; Miranda Nybondas; Juha Saharinen; James P Robinson; Zhaohui Yang; Li-Qiong Chen; Torben Orntoft; Jukka-Pekka Mecklin; Heikki Järvinen; Charis Eng; Gabriela Moeslein; Darryl Shibata; richard Houlston; Anneke Lucassen; Ian P M Tomlinson; Virpi Launonen; Ari Ristimäki; Diego Arango; Auli Karhu; H Lee Sweeney; Lauri A Aaltonen
Unregulated smooth-muscle myosin in human intestinal neoplasia.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(14):5513-8.
2008: Frank Weber; Charis Eng
Update on the molecular diagnosis of endocrine tumors: toward -omics-based personalized healthcare?
The Journal of clinical endocrinology and metabolism 2008;93(4):1097-104.
2008: Guillaume Assié; Thomas LaFramboise; Petra Platzer; Jérôme Bertherat; Constantine Straturis; Charis Eng
SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples.
American journal of human genetics 2008;82(4):903-15.
2008: Rosemary E Teresi; Sarah M Planchon; Kristin A Waite; Charis Eng
Regulation of the PTEN promoter by statins and SREBP.
Human molecular genetics 2008;17(7):919-28.
2008: A Cascón; I Landa; E López-Jiménez; A Díez-Hernández; M Buchta; C Montero-Conde; S Leskelä; L J Leandro-García; R Letón; C Rodríguez-Antona; Charis Eng; H P H Neumann; M Robledo
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Journal of medical genetics 2008;45(4):233-8.
2008: Guillaume Assié; Thomas LaFramboise; Petra Platzer; Charis Eng
Frequency of germline genomic homozygosity associated with cancer cases.
JAMA : the journal of the American Medical Association 2008;299(12):1437-45.
2008: Anthony J Trimboli; Koichi Fukino; Alain de Bruin; Guo Wei; Lei Shen; Stephan M Tanner; Nicholas Creasap; Thomas J Rosol; Michael L Robinson; Charis Eng; Michael C Ostrowski; Gustavo Leone
Direct evidence for epithelial-mesenchymal transitions in breast cancer.
Cancer research 2008;68(3):937-45.
2008: Sarah M Planchon; Kristin A Waite; Charis Eng
The nuclear affairs of PTEN.
Journal of cell science 2008;121(Pt 3):249-53.
2008: Mariola Peczkowska; Alberto Cascon; Aleksander Prejbisz; Agata Kubaszek; B Jarosław Cwikła; Mariusz Furmanek; Zoran Erlic; Charis Eng; Andrzej Januszewicz; Hartmut P H Neumann
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.
Nature clinical practice. Endocrinology & metabolism 2008;4(2):111-5.
2008: Barbara Pasini; Sarah R McWhinney; Thalia Bei; Ludmila Matyakhina; Sotirios Stergiopoulos; michael muchow; Sosipatros Boikos; Barbara Ferrando; Karel Pacak; Guillaume Assie; Eric Baudin; Agnès Chompret; Jay W Ellison; Jean-Jacques Briere; Pierre Rustin; Anne-Paule Gimenez-Roqueplo; Charis Eng; J Aidan Carney; Constantine Straturis
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
European journal of human genetics : EJHG 2008;16(1):79-88.
2007: Attila Patocs; Li Zhang; Yaomin Xu; Frank Weber; Trinidad Caldes; George L Mutter; Petra Platzer; Charis Eng
Breast-cancer stromal cells with TP53 mutations and nodal metastases.
The New England journal of medicine 2007;357(25):2543-51.
2007: Brandie Heald; Rocio Moran; Mira Milas; Carol Burke; Charis Eng
Familial adenomatous polyposis in a patient with unexplained mental retardation.
Nature clinical practice. Neurology 2007;3(12):694-700.
2007: Artur Zembowicz; Stewart M Knoepp; Thalia Bei; Sotirios Stergiopoulos; Charis Eng; Martin C Mihm; Constantine Straturis
Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions.
The American journal of surgical pathology 2007;31(11):1764-75.
2007: Shanna Gustafson; Kevin M Zbuk; Cheryl Scacheri; Charis Eng
Cowden syndrome.
Seminars in oncology 2007;34(5):428-34.
2007: Kevin M Zbuk; Attila Patocs; Amy Shealy; Heather Sylvester; Susan Miesfeldt; Charis Eng
Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.
Nature clinical practice. Oncology 2007;4(10):608-12.
2007: Rosemary E Teresi; Kevin M Zbuk; Marcus Pezzolesi; Kristin A Waite; Charis Eng
Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.
American journal of human genetics 2007;81(4):756-67.
2007: Joanne Kotsopoulos; Jan Lubinski; Henry T Lynch; Jan Klijn; Parviz Ghadirian; Susan L Neuhausen; Charmaine Kim-Sing; William D Foulkes; Pal Moller; Claudine Isaacs; Susan Domchek; Susan Randall; Kenneth Offit; Nadine Tung; Peter Ainsworth; Ruth Gershoni-Baruch; Andrea Eisen; Mary Daly; Beth Y Karlan; Howard M Saal; Fergus J. Couch; Barbara Pasini; Teresa Wagner; Eitan Friedman; Gad Rennert; Charis Eng; Jeffrey N Weitzel; Ping Sun; steven narod; Judy E Garber; M Osborne; D Fishman; J McLennan; W McKinnon; Sofia D Merajver; H Olsson; D Provencher; B Pasche; G Evans; W S Meschino; E Lemire; A Chudley; D Rayson; C Bellati
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast cancer research and treatment 2007;105(2):221-8.
2007: Hartmut P H Neumann; Alexander O Vortmeyer; Dieter Schmidt; Martin Werner; Zoran Erlic; Alberto Cascon; Birke Bausch; Andrzej Januszewicz; Charis Eng
Evidence of MEN-2 in the original description of classic pheochromocytoma.
The New England journal of medicine 2007;357(13):1311-5.
2007: Kevin M Zbuk; Charis Eng
Hamartomatous polyposis syndromes.
Nature clinical practice. Gastroenterology & hepatology 2007;4(9):492-502.
2007: Ludmila Matyakhina; Thalia Bei; Sarah R McWhinney; Barbara Pasini; Silke Cameron; Bastian Gunawan; Sotirios Stergiopoulos; Sosipatros Boikos; michael muchow; Amalia Dutra; Evgenia Pak; Elias Campo; Maria C Cid; Fulgencio Gomez; Rolf C Gaillard; Guillaume Assie; László Füzesi; Bora E Baysal; Charis Eng; J Aidan Carney; Constantine Straturis
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.
The Journal of clinical endocrinology and metabolism 2007;92(8):2938-43.
2007: Brandie Heald; Joanne M Hilden; Kevin M Zbuk; Alice Norton; Paresh Vyas; Karl S Theil; Charis Eng
Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome.
Nature clinical practice. Oncology 2007;4(7):433-8.
2007: Heather M Ochs-Balcom; Gary Falk; William M Grady; Margaret Kinnard; Joseph Willis; Robert C Elston; Charis Eng; Amitabh Chak
Consortium approach to identifying genes for Barrett's esophagus and esophageal adenocarcinoma.
Translational research : the journal of laboratory and clinical medicine 2007;150(1):3-17.
2007: Joseph J Pinzone; Charis Eng; Julie Paik; Kathleen A Brindle; Matthew D Ringel; James D Katz
A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: potential molecular pathogenic mechanisms.
American journal of medical genetics. Part A 2007;143A(13):1522-7.
2007: Birke Bausch; Wiktor Borozdin; Victor F Mautner; Michael M Hoffmann; Detlef Boehm; Mercedes Robledo; Alberto Cascon; Tomas Harenberg; Francesca Schiavi; Christian Pawlu; Mariola Peczkowska; Claudio Letizia; Stefano Calvieri; Giorgio Arnaldi; Rolf D Klingenberg-Noftz; Nicole Reisch; Ambrogio Fassina; laurent brunaud; Martin A Walter; Massimo Mannelli; Graham MacGregor; F Fausto Palazzo; Marta Barontini; Martin Walz; Bernhard Kremens; Georg Brabant; Roland Pfäffle; Ann-Cathrin Koschker; Felix Lohoefner; Markus Mohaupt; Oliver Gimm; Barbara Jarzab; Sarah R McWhinney; Giuseppe Opocher; Andrzej Januszewicz; Juergen Kohlhase; Charis Eng; Hartmut P H Neumann
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
The Journal of clinical endocrinology and metabolism 2007;92(7):2784-92.
2007: Koichi Fukino; Lei Shen; Attila Patocs; George L Mutter; Charis Eng
Genomic instability within tumor stroma and clinicopathological characteristics of sporadic primary invasive breast carcinoma.
JAMA : the journal of the American Medical Association 2007;297(19):2103-11.
2007: Kristi L Bennett; Björn Hackanson; Laura T Smith; Carl D Morrison; James C Lang; David E Schuller; Frank Weber; Charis Eng; Christoph Plass
Tumor suppressor activity of CCAAT/enhancer binding protein alpha is epigenetically down-regulated in head and neck squamous cell carcinoma.
Cancer research 2007;67(10):4657-64.
2007: Christopher A Alvarez-Breckenridge; Kristin A Waite; Charis Eng
PTEN regulates phospholipase D and phospholipase C.
Human molecular genetics 2007;16(10):1157-63.
2007: Marcus Pezzolesi; Kevin M Zbuk; Kristin A Waite; Charis Eng
Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome.
Human molecular genetics 2007;16(9):1058-71.
2007: Omar A Minai; Christina Rigelsky; Charis Eng; Alejandro C Arroliga; James K Stoller
Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia.
Chest 2007;131(4):984-7.
2007: Wen Hong Shen; Adayabalam S Balajee; Jianli Wang; Hong Wu; Charis Eng; Pier Paolo Pandolfi; Yuxin Yin
Essential role for nuclear PTEN in maintaining chromosomal integrity.
Cell 2007;128(1):157-70.
2007: Frank Weber; Yaomin Xu; Li Zhang; Attila Patocs; Lei Shen; Petra Platzer; Charis Eng
Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma.
JAMA : the journal of the American Medical Association 2007;297(2):187-95.
2007: Zailong Wang; Pearlly Yan; Dustin Potter; Charis Eng; Hui-Ming (Tim) Huang; Shili Lin
Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic data.
BMC bioinformatics 2007;8():38.
2007: Kevin M Zbuk; Charis Eng
Predicting response to EGFR-tyrosine kinase inhibitors among diverse ancestries: just way too polymorphic.
Cancer biology & therapy 2007;6(1):112-5.
2007: Lisa D Yee; Nita Williams; Ping Wen; Donn C Young; Joanne Lester; Maria V Johnson; William B Farrar; Michael J Walker; Stephen P Povoski; Saul Suster; Charis Eng
Pilot study of rosiglitazone therapy in women with breast cancer: effects of short-term therapy on tumor tissue and serum markers.
Clinical cancer research : an official journal of the American Association for Cancer Research 2007;13(1):246-52.
2007: Kevin M Zbuk; Charis Eng
Cancer phenomics: RET and PTEN as illustrative models.
Nature reviews. Cancer 2007;7(1):35-45.
2006: Takeo Minaguchi; Kristin A Waite; Charis Eng
Nuclear localization of PTEN is regulated by Ca(2+) through a tyrosil phosphorylation-independent conformational modification in major vault protein.
Cancer research 2006;66(24):11677-82.
2006: Pearlly S Yan; Chinnambally Venkataramu; Ashraf Ibrahim; Joseph C Liu; Rulong Z Shen; Nils M Diaz; Barbara A Centeno; Frank Weber; Yu-Wei Leu; Charles L Shapiro; Charis Eng; Timothy J Yeatman; Hui-Ming (Tim) Huang
Mapping geographic zones of cancer risk with epigenetic biomarkers in normal breast tissue.
Clinical cancer research : an official journal of the American Association for Cancer Research 2006;12(22):6626-36.
2006: Macarena Ruiz-Ferrer; Raquel M Fernández; Guillermo Antiñolo; Manuel López-Alonso; Charis Eng; Salud Borrego
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(11):704-10.
2006: Marcus Pezzolesi; Yan Li; Xiao-Ping Zhou; Robert Pilarski; Lei Shen; Charis Eng
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.
American journal of human genetics 2006;79(5):923-34.
2006: Amitabh Chak; Ashley Faulx; Charis Eng; William M Grady; Margaret Kinnard; Heather M Ochs-Balcom; Gary Falk
Gastroesophageal reflux symptoms in patients with adenocarcinoma of the esophagus or cardia.
Cancer 2006;107(9):2160-6.
2006: Micheala A Aldred; Charis Eng
SNP'ing at nasopharyngeal cancer susceptibility: for whom the bell TOLLs.
Cancer biology & therapy 2006;5(10):1292-3.
2006: Amitabh Chak; Heather M Ochs-Balcom; Gary Falk; William M Grady; Margaret Kinnard; Joseph E Willis; Robert C Elston; Charis Eng
Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006;15(9):1668-73.
2006: Ji-Hyun Chung; Michael C Ostrowski; Todd Romigh; Takeo Minaguchi; Kristin A Waite; Charis Eng
The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation.
Human molecular genetics 2006;15(17):2553-9.
2006: Frank Weber; Rosemary E Teresi; Christoph E Broelsch; Andrea Frilling; Charis Eng
A limited set of human MicroRNA is deregulated in follicular thyroid carcinoma.
The Journal of clinical endocrinology and metabolism 2006;91(9):3584-91.
2006: Birke Bausch; Ann-Cathrin Koschker; Martin Fassnacht; Johanna Stoevesandt; Michael M Hoffmann; Charis Eng; Bruno Allolio; Hartmut P H Neumann
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma.
The Journal of clinical endocrinology and metabolism 2006;91(9):3478-81.
2006: Birke Bausch; Carsten Christof Boedeker; Ansgar Berlis; Ingo Brink; Markus Cybulla; Martin Walz; Andrzej Januszewicz; Claudio Letizia; Giuseppe Opocher; Charis Eng; Hartmut P H Neumann
Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort.
Annals of the New York Academy of Sciences 2006;1073():122-37.
2006: Amy Finch; Mario E Beiner; Jan Lubinski; Henry T Lynch; Pal Moller; Barry Rosen; Joan Murphy; Parviz Ghadirian; Eitan Friedman; William D Foulkes; Charmaine Kim-Sing; Teresa Wagner; Nadine Tung; Fergus J. Couch; Dominique Stoppa-Lyonnet; Peter Ainsworth; Mary Daly; Barbara Pasini; Ruth Gershoni-Baruch; Charis Eng; Olufunmilayo I Olopade; Jane McLennan; Beth Y Karlan; Jeffrey N Weitzel; Ping Sun; Steven A Narod
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.
JAMA : the journal of the American Medical Association 2006;296(2):185-92.
2006: Marta S Sarquis; Shipra Agrawal; Lei Shen; Robert Pilarski; Xiao-Ping Zhou; Charis Eng
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
American journal of human genetics 2006;79(1):23-30.
2006: Mustafa Tekin; Burcu Oztürk Hişmi; Suat Fitoz; Fatos Yalçinkaya; Mesiha Ekim; Aydan Kansu; Mehmet Ertem; Gülhis Deda; Ercan Tutar; Saadet Arsan; Xiao-Ping Zhou; Robert Pilarski; Charis Eng; Nejat Akar
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
American journal of medical genetics. Part A 2006;140(13):1472-5.
2006: Yufang Tang; Charis Eng
p53 down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction.
Cancer research 2006;66(12):6139-48.
2006: Capucine Delnatte; Damien Sanlaville; Jean-Francois Mougenot; Joris R Vermeesch; Claude Houdayer; Marie-Christine de Blois; David Genevieve; Olivier Goulet; Jean-Pierre Fryns; Francis Jaubert; Michel Vekemans; Stanislas LYONNET; Serge Romana; Charis Eng; Dominique Stoppa-Lyonnet
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
American journal of human genetics 2006;78(6):1066-74.
2006: Frank Weber; Lei Shen; Koichi Fukino; Attila Patocs; George L Mutter; Trinidad Caldes; Charis Eng
Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.
American journal of human genetics 2006;78(6):961-72.
2006: Rosemary E Teresi; Chung-Wai Shaiu; Ching-Shih Chen; V Krishna Chatterjee; Kristin A Waite; Charis Eng
Increased PTEN expression due to transcriptional activation of PPARgamma by Lovastatin and Rosiglitazone.
International journal of cancer. Journal international du cancer 2006;118(10):2390-8.
2006: Ling Choo Lim; M H Tan; Charis Eng; Bin Tean Teh; R C Rajasoorya
Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention.
Journal of internal medicine 2006;259(4):428-32.
2006: Shipra Agrawal; Charis Eng
Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer.
Human molecular genetics 2006;15(5):777-87.
2006: Mary B Daly; Jennifer E Axilbund; Eileen Bryant; Saundra S Buys; Charis Eng; Susan Friedman; Laura J Esserman; Carolyn D Farrell; James M Ford; Judy E Garber; Joanne M Jeter; Wendy Kohlmann; Patrick M Lynch; Paul Kelly Marcom; Lisle M Nabell; Kenneth Offit; Raymond U Osarogiagbon; Boris Pasche; Gwen Reiser; Rebecca Sutphen; Jeffrey N Weitzel
Genetic/familial high-risk assessment: breast and ovarian.
Journal of the National Comprehensive Cancer Network : JNCCN 2006;4(2):156-76.
2006: Annette R Patterson; A Marilyn Leitch; Paul T Weatherall; Xiao-Ping Zhou; Charis Eng; Gail Tomlinson
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2006;24(3):525-7.
2006: Yufang Tang; Charis Eng
PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner.
Cancer research 2006;66(2):736-42.
2006: Mohamed H Abdel-Rahman; Ying Yang; Xiao-Ping Zhou; Elson L Craig; Frederick H Davidorf; Charis Eng
High frequency of submicroscopic hemizygous deletion is a major mechanism of loss of expression of PTEN in uveal melanoma.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2006;24(2):288-95.
2006: Tanios Bekaii-Saab; Nita Williams; Christoph Plass; Miguel Villalona Calero; Charis Eng
A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma.
BMC cancer 2006;6():278.
2006: J M Roberts; Charis Eng
Isolation to interface to integration - is it feasible to seek a holistic profession?
Methods of information in medicine 2006;45(5):471-3.
2006: Ming Jin; Philip T Diaz; Tran Bourgeois; Charis Eng; Clay B Marsh; Haifeng M Wu
Two-dimensional gel proteome reference map of blood monocytes.
Proteome science 2006;4():16.
2006: Antti Kokko; Päivi Laiho; Rainer Lehtonen; Sanna Korja; Luis Carvajal Carmona; Heikki Järvinen; Jukka-Pekka Mecklin; Charis Eng; Johanna Schleutker; Ian P M Tomlinson; Pia Vahteristo; Lauri A Aaltonen
EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.
BMC cancer 2006;6():145.
2006: Eitan Friedman; Joanne Kotsopoulos; Jan Lubinski; Henry T Lynch; Parviz Ghadirian; Susan L Neuhausen; Claudine Isaacs; Barbara Weber; William D Foulkes; Pal Moller; Barry Rosen; Charmaine Kim-Sing; Ruth Gershoni-Baruch; Peter Ainsworth; Mary Daly; Nadine Tung; Andrea Eisen; Olufunmilayo I Olopade; Beth Y Karlan; Howard M Saal; Judy E Garber; Gad Rennert; Dawna Gilchrist; Charis Eng; Kenneth Offit; Michael Osborne; Ping Sun; Steven A Narod
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
Breast cancer research : BCR 2006;8(2):R15.
2006: Colin G Perry; William F Young; Sarah R McWhinney; Thalia Bei; Sotirios Stergiopoulos; Ryan A Knudson; Rhett P Ketterling; Charis Eng; Constantine Straturis; J Aidan Carney
Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence.
The American journal of surgical pathology 2006;30(1):42-9.
2006: Marta S Sarquis; Frank Weber; Lei Shen; Christoph E Broelsch; Sissy M Jhiang; Jan Zedenius; Andrea Frilling; Charis Eng
High frequency of loss of heterozygosity in imprinted, compared with nonimprinted, genomic regions in follicular thyroid carcinomas and atypical adenomas.
The Journal of clinical endocrinology and metabolism 2006;91(1):262-9.
2006: André Nkondjock; Parviz Ghadirian; Joanne Kotsopoulos; Jan Lubinski; Henry T Lynch; Charmaine Kim-Sing; Douglas E Horsman; Barry Rosen; Claudine Isaacs; Barbara Weber; William D Foulkes; Peter Ainsworth; Nadine Tung; Andrea Eisen; Eitan Friedman; Charis Eng; Ping Sun; Steven A Narod
Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
International journal of cancer. Journal international du cancer 2006;118(1):103-7.
2005: Justo Lorenzo Bermejo; Charis Eng; Kari Hemminki
Cancer characteristics in Swedish families fulfilling criteria for hereditary nonpolyposis colorectal cancer.
Gastroenterology 2005;129(6):1889-99.
2005: Charis Eng
Serendipity, fate, science and leadership.
Cancer biology & therapy 2005;4(12):1422-5.
2005: Kevin Sweet; Joseph Willis; Xiao-Ping Zhou; Carol J Gallione; Takeshi Sawada; Pia Alhopuro; Sok Kean Khoo; Attila Patocs; Cossette Martin; Scott Bridgeman; John W Heinz; Robert Pilarski; Rainer Lehtonen; Thomas W Prior; Thierry Frebourg; Bin Tean Teh; Douglas A Marchuk; Lauri A Aaltonen; Charis Eng
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
JAMA : the journal of the American Medical Association 2005;294(19):2465-73.
2005: Frank Weber; Charis Eng
Editorial: germline variants within RET: clinical utility or scientific playtoy?
The Journal of clinical endocrinology and metabolism 2005;90(11):6334-6.
2005: Francesca Schiavi; Carsten Christof Boedeker; Birke Bausch; Mariola Peçzkowska; Clara Fuentes Gomez; Thomas Strassburg; Christian Pawlu; Mary Buchta; Maren Salzmann; Michael M Hoffmann; Ansgar Berlis; Ingo Brink; Markus Cybulla; Mihaela Muresan; Martin A Walter; Flavio Forrer; Matti Välimäki; Andrzej Kawecki; Zbigniew Szutkowski; Jörg Schipper; Martin Walz; Pascal Pigny; Catherine Bauters; Joan E Willet-Brozick; Bora E Baysal; Andrzej Januszewicz; Charis Eng; Giuseppe Opocher; Hartmut P H Neumann
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
JAMA : the journal of the American Medical Association 2005;294(16):2057-63.
2005: Kari Hemminki; Charis Eng; Bowang Chen
Familial risks for nonmedullary thyroid cancer.
The Journal of clinical endocrinology and metabolism 2005;90(10):5747-53.
2005: Ji-Hyun Chung; Charis Eng
Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis.
Cancer research 2005;65(18):8096-100.
2005: Derek K Marsee; Douangsone D Vadysirisack; Carl D Morrison; Manju L Prasad; Charis Eng; Quan-Yang Duh; Katherine A Rauen; Richard T Kloos; Sissy M Jhiang
Variable expression of coxsackie-adenovirus receptor in thyroid tumors: implications for adenoviral gene therapy.
Thyroid : official journal of the American Thyroid Association 2005;15(9):977-87.
2005: Charis Eng
High frequency of large gene deletions and rearrangements in Lynch syndrome--back to the future?
Gastroenterology 2005;129(3):1124-6.
2005: Frank Weber; Koichi Fukino; Miguel A Villalona-Calero; Charis Eng
Limitations of single-strand conformation polymorphism analysis as a high-throughput method for the detection of EGFR mutations in the clinical setting.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005;23(24):5847-8; author reply 5848-9.
2005: Shipra Agrawal; Robert Pilarski; Charis Eng
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Human molecular genetics 2005;14(16):2459-68.
2005: Frank Weber; Charis Eng
Gene-expression profiling in differentiated thyroid cancer--a viable strategy for the practice of genomic medicine?
Future oncology (London, England) 2005;1(4):497-510.
2005: M Takahashi; X J Yang; S McWhinney; N Sano; Charis Eng; S Kagawa; Bin Tean Teh; H-O Kanayama
cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma.
Journal of medical genetics 2005;42(8):e48.
2005: Ricardo J Dourisboure; S Belli; E Domenichini; Ernesto J Podestá; Charis Eng; Angela R Solano
Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma.
Thyroid : official journal of the American Thyroid Association 2005;15(7):668-71.
2005: Kristin A Waite; Michelle R Sinden; Charis Eng
Phytoestrogen exposure elevates PTEN levels.
Human molecular genetics 2005;14(11):1457-63.
2005: Frank Weber; Koichi Fukino; T Sawada; N Williams; Kevin M Sweet; Romulo M Brena; Christoph Plass; Trinidad Caldes; George L Mutter; Miguel A Villalona-Calero; Charis Eng
Variability in organ-specific EGFR mutational spectra in tumour epithelium and stroma may be the biological basis for differential responses to tyrosine kinase inhibitors.
British journal of cancer 2005;92(10):1922-6.
2005: Ji-Hyun Chung; Margaret E Ginn-Pease; Charis Eng
Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein.
Cancer research 2005;65(10):4108-16.
2005: Frank Weber; Lei Shen; Micheala A Aldred; Carl D Morrison; Andrea Frilling; Motoyasu Saji; Frank Schuppert; Christoph E Broelsch; Matthew D Ringel; Charis Eng
Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combination.
The Journal of clinical endocrinology and metabolism 2005;90(5):2512-21.
2005: R M Fernandez; G Boru; A Peciña; K Jones; Manuel López-Alonso; Guillermo Antiñolo; Salud Borrego; Charis Eng
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.
Journal of medical genetics 2005;42(4):322-7.
2005: Merlin G Butler; Majed Dasouki; Xiao-Ping Zhou; Zohreh Talebizadeh; M Brown; T Nicole Takahashi; Judith H Miles; C H Wang; R Stratton; R Pilarski; Charis Eng
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
Journal of medical genetics 2005;42(4):318-21.
2005: Frank Weber; Micheala A Aldred; Carl D Morrison; Christoph Plass; Andrea Frilling; Christoph E Broelsch; Kristin A Waite; Charis Eng
Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis.
The Journal of clinical endocrinology and metabolism 2005;90(2):1149-55.
2005: Mohamed H Abdel-Rahman; Elson L Craig; Frederick H Davidorf; Charis Eng
Expression of vascular endothelial growth factor in uveal melanoma is independent of 6p21-region copy number.
Clinical cancer research : an official journal of the American Association for Cancer Research 2005;11(1):73-8.
2004: Dewi Astuti; Mark Morris; Cecilia Krona; Frida Abel; Dean Gentle; Tommy Martinsson; Per Kogner; Hartmut P H Neumann; R Voutilainen; Charis Eng; P Rustin; Farida Latif; Eamonn R Maher
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.
British journal of cancer 2004;91(10):1835-41.
2004: Sarah R McWhinney; Robert T Pilarski; Shawnia Forrester; Michael C Schneider; M Marta Sarquis; Eduardo P Dias; Charis Eng
Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.
The Journal of clinical endocrinology and metabolism 2004;89(11):5694-9.
2004: Kari Hemminki; Charis Eng
Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans.
Journal of medical genetics 2004;41(11):801-7.
2004: Koichi Fukino; Lei Shen; Satoshi Matsumoto; Carl D Morrison; George L Mutter; Charis Eng
Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets.
Cancer research 2004;64(20):7231-6.
2004: Micheala A Aldred; Ying Huang; Sandya Liyanarachchi; Natalia S Pellegata; Oliver Gimm; Sissy M Jhiang; Ramana V Davuluri; Albert de La Chapelle; Charis Eng
Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2004;22(17):3531-9.
2004: Hartmut P H Neumann; Christian Pawlu; Mariola Peczkowska; Birke Bausch; Sarah R McWhinney; Mihaela Muresan; Mary Buchta; Gerlind Franke; Joachim Klisch; Thorsten A Bley; Stefan Hoegerle; Carsten Christof Boedeker; Giuseppe Opocher; Jörg Schipper; Andrzej Januszewicz; Charis Eng
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
JAMA : the journal of the American Medical Association 2004;292(8):943-51.
2004: Rebecca Nagy; Kevin Sweet; Charis Eng
Highly penetrant hereditary cancer syndromes.
Oncogene 2004;23(38):6445-70.
2004: Carl Morrison; William B Farrar; Jeff Kneile; Nita Williams; Yiwen Liu-Stratton; Alan Bakaletz; Micheala A Aldred; Charis Eng
Molecular classification of parathyroid neoplasia by gene expression profiling.
The American journal of pathology 2004;165(2):565-76.
2004: Charis Eng; Dirk Iglehart
Decision aids from genetics to treatment of breast cancer: long-term clinical utility or temporary solution?
JAMA : the journal of the American Medical Association 2004;292(4):496-8.
2004: Cagatay Oktenli; Davut Gul; Mustafa Deveci; Mutlu Saglam; Meena Upadhyaya; Peter Thompson; Claudia Consoli; I Hakki Kocar; Robert Pilarski; Xiao-Ping Zhou; Charis Eng
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.
American journal of medical genetics. Part A 2004;127A(3):298-301.
2004: M A Aldred; R O C Sanford; N S Thomas; M A Barrow; L C Wilson; Louise A Brueton; M C Bonaglia; Raoul Hennekam; Charis Eng; N R Dennis; Richard C Trembath
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.
Journal of medical genetics 2004;41(6):433-9.
2004: Robert Pilarski; Charis Eng
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.
Journal of medical genetics 2004;41(5):323-6.
2004: R M Fernandez; Mercedes Robledo; Guillermo Antinolo; Ana Pecina; Sergio Ruiz-Llorente; Charis Eng; Salud Borrego
The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer.
Thyroid : official journal of the American Thyroid Association 2004;14(4):329-31.
2004: Heather Hampel; Kevin M Sweet; Judith A Westman; Kenneth Offit; Charis Eng
Referral for cancer genetics consultation: a review and compilation of risk assessment criteria.
Journal of medical genetics 2004;41(2):81-91.
2004: Najah T Nassif; lobo glenn; Xiaojuan Wu; Christopher J A Henderson; Carl D Morrison; Charis Eng; Bin Jalaludin; Eva Segelov
PTEN mutations are common in sporadic microsatellite stable colorectal cancer.
Oncogene 2004;23(2):617-28.
2004: Rainer Lehtonen; Maija Kiuru; Sakari Vanharanta; Jari Sjöberg; Leena-Maija Aaltonen; Kristiina Aittomäki; Johanna Arola; Ralf Butzow; Charis Eng; Kirsti Husgafvel-Pursiainen; Jorma Isola; Heikki Järvinen; Pasi A Koivisto; Jukka-Pekka Mecklin; Päivi Peltomäki; Reijo Salovaara; Veli-Matti Wasenius; Auli Karhu; Virpi Launonen; Nina N Nupponen; Lauri A Aaltonen
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
The American journal of pathology 2004;164(1):17-22.
2004: Sakari Vanharanta; Mary Buchta; Sarah R McWhinney; Sanna K Virta; Mariola Peçzkowska; Carl D Morrison; Rainer Lehtonen; Andrzej Januszewicz; Heikki Järvinen; Matti Juhola; Jukka-Pekka Mecklin; Eero Pukkala; Riitta Herva; Maija Kiuru; Nina N Nupponen; Lauri A Aaltonen; Hartmut P H Neumann; Charis Eng
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
American journal of human genetics 2004;74(1):153-9.
2003: Dewi Astuti; Niki Hart-Holden; Farida Latif; Fiona Lalloo; Graeme C M Black; Caron Lim; Anthony Moran; Ashley B Grossman; Shirley V Hodgson; Anthony Freemont; Richard Ramsden; Charis Eng; D G R Evans; Eamonn R Maher
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Clinical endocrinology 2003;59(6):728-33.
2003: Xiao-Ping Zhou; Deborah J Marsh; Carl D Morrison; Abhik R Chaudhury; Marius Maxwell; Guido Reifenberger; Charis Eng
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
American journal of human genetics 2003;73(5):1191-8.
2003: Charis Eng
Constipation, polyps, or cancer? Let PTEN predict your future.
American journal of medical genetics. Part A 2003;122A(4):315-22.
2003: Raquel M Fernández; Guillermo Antiñolo; Charis Eng; Salud Borrego
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
Human mutation 2003;22(5):412-5.
2003: Johannes H M Merks; L S de Vries; X-P Zhou; Peter Nikkels; P G Barth; Charis Eng; Raoul Hennekam
PTEN hamartoma tumour syndrome: variability of an entity.
Journal of medical genetics 2003;40(10):e111.
2003: Sarah R McWhinney; Getachew Boru; Philip K Binkley; Mariola Peczkowska; Andrzej Januszewicz; Hartmut P H Neumann; Charis Eng
Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset.
The Journal of clinical endocrinology and metabolism 2003;88(10):4911-6.
2003: Kristin A Waite; Charis Eng
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Nature reviews. Genetics 2003;4(10):763-73.
2003: C M Drovdlic; Katrina Goddard; Amitabh Chak; Wendy Brock; L Chessler; J F King; J Richter; G W Falk; D K Johnston; James Larry Fisher; W M Grady; Stanley Lemeshow; Charis Eng
Demographic and phenotypic features of 70 families segregating Barrett's oesophagus and oesophageal adenocarcinoma.
Journal of medical genetics 2003;40(9):651-6.
2003: Charis Eng
PTEN: one gene, many syndromes.
Human mutation 2003;22(3):183-98.
2003: Martin B Delatycki; A Danks; Andrew Churchyard; X-P Zhou; Charis Eng
De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.
Journal of medical genetics 2003;40(8):e92.
2003: Xiao-Ping Zhou; Kristin A Waite; Robert Pilarski; Heather Hampel; Magali J Fernandez; Cindy Bos; Majed Dasouki; Gerald L Feldman; Lois A Greenberg; Jennifer Ivanovich; Ellen Matloff; Annette Patterson; Mary Ella Pierpont; Donna Russo; Najah T Nassif; Charis Eng
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
American journal of human genetics 2003;73(2):404-11.
2003: Ashraf Dallol; Dietmar Krex; Luke Hesson; Charis Eng; Eamonn R Maher; Farida Latif
Frequent epigenetic inactivation of the SLIT2 gene in gliomas.
Oncogene 2003;22(29):4611-6.
2003: Rajnish A Gupta; pasha sarraf; Elisabetta Mueller; Jeffrey A Brockman; Jeffery J Prusakiewicz; Charis Eng; Timothy M Willson; Raymond DuBois
Peroxisome proliferator-activated receptor gamma-mediated differentiation: a mutation in colon cancer cells reveals divergent and cell type-specific mechanisms.
The Journal of biological chemistry 2003;278(25):22669-77.
2003: Thomas J McGarrity; Maria J Wagner Baker; Francesca M Ruggiero; Diane M Thiboutot; Heather Hampel; Xiao-Ping Zhou; Charis Eng
GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations.
The American journal of gastroenterology 2003;98(6):1429-34.
2003: Micheala A Aldred; Margaret E Ginn-Pease; Carl D Morrison; Anthony P Popkie; Oliver Gimm; Cuong Hoang-Vu; Ulf Krause; Henning Dralle; Sissy M Jhiang; Christoph Plass; Charis Eng
Caveolin-1 and caveolin-2,together with three bone morphogenetic protein-related genes, may encode novel tumor suppressors down-regulated in sporadic follicular thyroid carcinogenesis.
Cancer research 2003;63(11):2864-71.
2003: Micheala A Aldred; Carl Morrison; Oliver Gimm; Cuong Hoang-Vu; Ulf Krause; Henning Dralle; Sissy M Jhiang; Charis Eng
Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas.
Oncogene 2003;22(22):3412-6.
2003: Emma Jaeger; Kelly Woodford-Richens; M Lockett; Andrew J Rowan; Elinor J Sawyer; Karl Heinimann; P Rozen; Victoria Murday; S C Whitelaw; A Ginsberg; Wendy S Atkin; H T Lynch; Melissa C Southey; HS Debinski; Charis Eng; Walter F Bodmer; Ian C Talbot; Shirley V Hodgson; Huw J W Thomas; Ian P M Tomlinson
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.
American journal of human genetics 2003;72(5):1261-7.
2003: Kristin A Waite; Charis Eng
BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels.
Human molecular genetics 2003;12(6):679-84.
2003: Salud Borrego; Raquel M Fernández; Heather Dziema; A Niess; Manuel López-Alonso; Guillermo Antiñolo; Charis Eng
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.
Journal of medical genetics 2003;40(3):e18.
2003: Charis Eng; Maija Kiuru; Magali J Fernandez; Lauri A Aaltonen
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Nature reviews. Cancer 2003;3(3):193-202.
2003: Margaret E Ginn-Pease; Charis Eng
Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells.
Cancer research 2003;63(2):282-6.
2003: Salud Borrego; Fred A Wright; Raquel M Fernández; Nita Williams; Manuel López-Alonso; Ramana V Davuluri; Guillermo Antiñolo; Charis Eng
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
American journal of human genetics 2003;72(1):88-100.
2002: Salud Borrego; Raquel M Fernández; Heather Dziema; Miguel A Japón; Irene Marcos; Charis Eng; Guillermo Antiñolo
Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer.
Thyroid : official journal of the American Thyroid Association 2002;12(11):1017-22.
2002: Keisuke Kurose; Kristie Gilley; Satoshi Matsumoto; Peter H Watson; Xiao-Ping Zhou; Charis Eng
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.
Nature genetics 2002;32(3):355-7.
2002: Geoffrey D Girnun; Wendy M Smith; Stavit Drori; pasha sarraf; Elisabetta Mueller; Charis Eng; Prashant R Nambiar; Daniel W Rosenberg; Roderick T Bronson; Winfried Edelmann; Raju Kucherlapati; Frank J Gonzalez; Bruce M Spiegelman
APC-dependent suppression of colon carcinogenesis by PPARgamma.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(21):13771-6.
2002: Eamonn R Maher; Charis Eng
The pressure rises: update on the genetics of phaeochromocytoma.
Human molecular genetics 2002;11(20):2347-54.
2002: Tony Frisk; Theodoros Foukakis; Trisha Dwight; Jonas Lundberg; Anders Höög; Göran Wallin; Charis Eng; Jan Zedenius; Catharina Larsson
Silencing of the PTEN tumor-suppressor gene in anaplastic thyroid cancer.
Genes, chromosomes & cancer 2002;35(1):74-80.
2002: Xiao-Ping Zhou; Anu Loukola; Reijo Salovaara; Minna Nystrom-Lahti; Päivi Peltomäki; Albert de La Chapelle; Lauri A Aaltonen; Charis Eng
PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers.
The American journal of pathology 2002;161(2):439-47.
2002: Liang-Ping Weng; Jessica L Brown; Kimberly M Baker; Michael C Ostrowski; Charis Eng
PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway.
Human molecular genetics 2002;11(15):1687-96.
2002: Charis Eng
Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis.
Annals of the New York Academy of Sciences 2002;968():213-21.
2002: Magali Fernandez; Charis Eng
The expanding role of PTEN in neoplasia: a molecule for all seasons? Commentary re: M. A. Davies, et al., Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells. Clin. Cancer Res., 8: 1904-1914, 2002.
Clinical cancer research : an official journal of the American Association for Cancer Research 2002;8(6):1695-8.
2002: Hartmut P H Neumann; Birke Bausch; Sarah R McWhinney; Bernhard U Bender; Oliver Gimm; Gerlind Franke; Jörg Schipper; Joachim Klisch; Carsten Altehoefer; Klaus Zerres; Andrzej Januszewicz; Charis Eng; Wendy M Smith; Robin Munk; Tanja Manz; Sven Glaesker; Thomas W Apel; Markus Treier; Martin Reineke; Martin Walz; Cuong Hoang-Vu; Michael Brauckhoff; Andreas Klein-Franke; Peter Klose; Heinrich Schmidt; Margarete Maier-Woelfle; Mariola Peçzkowska; Cezary Szmigielski; Charis Eng
Germ-line mutations in nonsyndromic pheochromocytoma.
The New England journal of medicine 2002;346(19):1459-66.
2002: Xiao-Ping Zhou; Heather Hampel; Jennifer Roggenbuck; Nabil Saba; Thomas W Prior; Charis Eng
A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.
The Journal of molecular diagnostics : JMD 2002;4(2):114-7.
2002: Bostjan Humar; Tumi Toro; Graziano Francesco; Hansjakob Müller; Zuzana Dobbie; Han Kwang-Yang; Charis Eng; Heather Hampel; Dale Gilbert; Ingrid M Winship; Susan Parry; Robyn Ward; Mike Findlay; Alice Christian; Monica Tucker; Kathy Tucker; Tony Merriman; Parry Guilford
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.
Human mutation 2002;19(5):518-25.
2002: David C Whiteman; Xiao-Ping Zhou; Margaret C Cummings; Sandra Pavey; Nicholas K Hayward; Charis Eng
Nuclear PTEN expression and clinicopathologic features in a population-based series of primary cutaneous melanoma.
International journal of cancer. Journal international du cancer 2002;99(1):63-7.
2002: Trinidad Caldes; Javier Godino; Miguel de la Hoya; Iciar Garcia Carbonero; Pedro Perez-Segura; Charis Eng; Manuel Benito; Eduardo Diaz-Rubio
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
International journal of cancer. Journal international du cancer 2002;98(5):774-9.
2002: Kristin A Waite; Charis Eng
Protean PTEN: form and function.
American journal of human genetics 2002;70(4):829-44.
2002: Xiao-Ping Zhou; Shannon Kuismanen; Minna Nystrom-Lahti; Paivi Peltomaki; Charis Eng
Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors.
Human molecular genetics 2002;11(4):445-50.
2001: Ying Huang; M Prasad; William J Lemon; Heather Hampel; Fred A Wright; Karl Kornacker; Virginia A LiVolsi; Wendy Frankel; Richard T Kloos; Charis Eng; Natalia S Pellegata; Albert de La Chapelle
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(26):15044-9.
2001: Charis Eng; H Thiele; X P Zhou; R J Gorlin; Raoul Hennekam; R M Winter
PTEN mutations and proteus syndrome.
Lancet 2001;358(9298):2079-80.
2001: Charis Eng; Lawrence C Brody; Teresa M U Wagner; Peter Devilee; Jan Vijg; Csilla I Szabo; Sean V Tavtigian; Katherine L Nathanson; Elaine A Ostrander; Thomas S Frank
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.
Journal of medical genetics 2001;38(12):824-33.
2001: Dewi Astuti; Angelo Agathanggelou; Sofia Honorio; Ashraf Dallol; Tommy Martinsson; Per Kogner; Carole Cummins; Hartmut P H Neumann; R Voutilainen; Patricia Dahia; Charis Eng; Eamonn R Maher; Farida Latif
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours.
Oncogene 2001;20(51):7573-7.
2001: Xiao-Ping Zhou; Kelly Woodford-Richens; Rainer Lehtonen; K Kurose; Micheala A Aldred; Heather Hampel; Virpi Launonen; S Virta; Robert Pilarski; Reijo Salovaara; Walter F Bodmer; B A Conrad; M Dunlop; Shirley V Hodgson; T Iwama; Heikki Järvinen; Ilmo Kellokumpu; J C Kim; B Leggett; D Markie; Jukka-Pekka Mecklin; Kay Neale; Robin Phillips; Juan Piris; P Rozen; richard Houlston; Lauri A Aaltonen; Ian P M Tomlinson; Charis Eng
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
American journal of human genetics 2001;69(4):704-11.
2001: Agustín Ruiz; Guillermo Antiñolo; Raquel M Fernández; Charis Eng; Irene Marcos; Salud Borrego
Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population.
Clinical endocrinology 2001;55(3):399-402.
2001: K Kurose; Stacy Hoshaw-Woodard; Adewale Adeyinka; Stanley Lemeshow; P H Watson; Charis Eng
Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour-microenvironment interactions.
Human molecular genetics 2001;10(18):1907-13.
2001: W M Smith; Xiao-Ping Zhou; Keisuke Kurose; X Gao; F Latif; T Kroll; K Sugano; S A Cannistra; S K Clinton; E R Maher; Thomas W Prior; Charis Eng
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.
Human genetics 2001;109(2):146-51.
2001: Bernhard U Bender; Charis Eng; M Olschewski; Dietmar P Berger; Jörg Laubenberger; C Altehöfer; Günter Kirste; M Orszagh; Vera van Velthoven; H Miosczka; Dieter Schmidt; Hartmut P H Neumann
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.
Journal of medical genetics 2001;38(8):508-14.
2001: X Zhou; H Hampel; H Thiele; RJ Gorlin; Raoul Hennekam; M Parisi; R M Winter; Charis Eng
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
Lancet 2001;358(9277):210-1.
2001: Dewi Astuti; Farida Latif; Ashraf Dallol; Patricia Dahia; F Douglas; E George; Filip Sköldberg; Eystein S Husebye; Charis Eng; Eamonn R Maher
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
American journal of human genetics 2001;69(1):49-54.
2001: Dominic J Smiraglia; Laura J Rush; Michael C Frühwald; Zunyan Dai; Werner Held; Joseph F Costello; James C Lang; Charis Eng; B Li; Fred A Wright; Michael A Caligiuri; Christoph Plass
Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies.
Human molecular genetics 2001;10(13):1413-9.
2001: Keisuke Kurose; Xiao-Ping Zhou; T Araki; S A Cannistra; E R Maher; Charis Eng
Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas.
The American journal of pathology 2001;158(6):2097-106.
2001: George L Mutter; Tan Ince; Jan P A Baak; G A Kust; X P Zhou; Charis Eng
Molecular identification of latent precancers in histologically normal endometrium.
Cancer research 2001;61(11):4311-4.
2001: Judith B Vanhorne; O Gimm; Shirley M Myers; A Kaushik; A von Deimling; Charis Eng; Lois M Mulligan
Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
Human genetics 2001;108(5):409-15.
2001: Oliver Gimm; Heather Dziema; J Brown; Cuong Hoang-Vu; Raoul Hinze; Henning Dralle; Lois M Mulligan; Charis Eng
Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma.
Oncogene 2001;20(17):2161-70.
2001: Matthew H Kulke; K S Thakore; G Thomas; H Wang; Massimo Loda; Charis Eng; Robert D Odze
Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus-associated adenocarcinoma.
Cancer 2001;91(8):1451-7.
2001: Dewi Astuti; F Douglas; T W J Lennard; I A Aligianis; Emma R Woodward; D G R Evans; Charis Eng; Farida Latif; Eamonn R Maher
Germline SDHD mutation in familial phaeochromocytoma.
Lancet 2001;357(9263):1181-2.
2001: Oliver Gimm; H Chi; Patricia Dahia; Aurel Perren; Raoul Hinze; P Komminoth; Henning Dralle; Paul R Reynolds; Charis Eng
Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
The Journal of clinical endocrinology and metabolism 2001;86(4):1801-5.
2001: Oliver Gimm; Heather Dziema; J Brown; A de la Puente; Cuong Hoang-Vu; Henning Dralle; C Plass; Charis Eng
Mutation analysis of NTRK2 and NTRK3, encoding 2 tyrosine kinase receptors, in sporadic human medullary thyroid carcinoma reveals novel sequence variants.
International journal of cancer. Journal international du cancer 2001;92(1):70-4.
2001: Matthew H Kulke; Robert D Odze; K S Thakore; G Thomas; H Wang; Massimo Loda; Charis Eng
Allelic loss of 10q23, the PTEN tumour suppressor gene locus, in Barrett's oesophagus-associated adenocarcinoma.
British journal of cancer 2001;84(6):748-53.
2001: Liang-Ping Weng; WM Smith; Jessica L Brown; Charis Eng
PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model.
Human molecular genetics 2001;10(6):605-16.
2001: Liang-Ping Weng; Jessica L Brown; Charis Eng
PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.
Human molecular genetics 2001;10(6):599-604.
2001: James D Fackenthal; D J Marsh; A L Richardson; Shelly A Cummings; Charis Eng; B G Robinson; Olufunmilayo I Olopade
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
Journal of medical genetics 2001;38(3):159-64.
2001: Liang-Ping Weng; Oliver Gimm; JB Kum; WM Smith; Xiao-Ping Zhou; D Wynford-Thomas; G Leone; Charis Eng
Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death.
Human molecular genetics 2001;10(3):251-8.
2001: L Weng; J Brown; Charis Eng
PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways.
Human molecular genetics 2001;10(3):237-42.
2001: Lauri A Aaltonen; S Roth; Charis Eng
18 Direct Sequencing for Cowden Syndrome Gene PTEN (MMAC1) Mutations.
Methods in molecular medicine 2001;50():185-93.
2001: Patricia Dahia; Charis Eng
Hereditary endocrine neoplasias: fundamental insights and the practice of clinical cancer genetics.
Frontiers of hormone research 2001;28():8-19.
2001: Patricia Dahia; Charis Eng
Genetic disorders of endocrine neoplasia. Introduction..
Frontiers of hormone research 2001;28():1-7.
2001: Melissa A Parisi; MB Dinulos; Kathleen A Leppig; Virginia P Sybert; Charis Eng; Louanne Hudgins
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.
Journal of medical genetics 2001;38(1):52-8.
2001: Charis Eng; Heather Hampel; Albert de La Chapelle
Genetic testing for cancer predisposition.
Annual review of medicine 2001;52():371-400.
2000: Oliver Gimm; Mary Armanios; Heather Dziema; Hartmut P H Neumann; Charis Eng
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.
Cancer research 2000;60(24):6822-5.
2000: Bernhard U Bender; M Gutsche; Sven Gläsker; B Müller; Günter Kirste; Charis Eng; Hartmut P H Neumann
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas.
The Journal of clinical endocrinology and metabolism 2000;85(12):4568-74.
2000: Charis Eng
Multiple endocrine neoplasia type 2 and the practice of molecular medicine.
Reviews in endocrine & metabolic disorders 2000;1(4):283-90.
2000: Charis Eng
Will the real Cowden syndrome please stand up: revised diagnostic criteria.
Journal of medical genetics 2000;37(11):828-30.
2000: Xiao-Ping Zhou; Oliver Gimm; Heather Hampel; T Niemann; M J Walker; Charis Eng
Epigenetic PTEN silencing in malignant melanomas without PTEN mutation.
The American journal of pathology 2000;157(4):1123-8.
2000: Keisuke Kurose; Xiao-Ping Zhou; T Araki; Charis Eng
Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas.
Genes, chromosomes & cancer 2000;29(2):166-72.
2000: Elisabetta Mueller; M Smith; pasha sarraf; Todd G Kroll; A Aiyer; D S Kaufman; William K Oh; George D Demetri; W D Figg; X P Zhou; Charis Eng; Bruce M Spiegelman; Philip W Kantoff
Effects of ligand activation of peroxisome proliferator-activated receptor gamma in human prostate cancer.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(20):10990-5.
2000: Patricia Dahia; Oliver Gimm; H Chi; D J Marsh; Paul R Reynolds; Charis Eng
Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations.
Journal of medical genetics 2000;37(9):715-7.
2000: Sapna Syngal; EA Fox; Charis Eng; Richard D Kolodner; Judy E Garber
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.
Journal of medical genetics 2000;37(9):641-5.
2000: William M Grady; Joseph Willis; Parry Guilford; Anita K Dunbier; Tumi Toro; H Lynch; G Wiesner; K Ferguson; Charis Eng; J G Park; S J Kim; Sanford Markowitz
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer.
Nature genetics 2000;26(1):16-7.
2000: Salud Borrego; Agustín Ruiz; M E Saez; O Gimm; X Gao; Manuel López-Alonso; A Hernández; Fred A Wright; Guillermo Antiñolo; Charis Eng
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
Journal of medical genetics 2000;37(8):572-8.
2000: Oliver Gimm; T Attié-Bitach; Jacqueline A Lees; M Vekemans; Charis Eng
Expression of the PTEN tumour suppressor protein during human development.
Human molecular genetics 2000;9(11):1633-9.
2000: George L Mutter; MC Lin; JT Fitzgerald; JB Kum; Jan P A Baak; Jacqueline A Lees; Liang-Ping Weng; Charis Eng
Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers.
Journal of the National Cancer Institute 2000;92(11):924-30.
2000: George L Mutter; MC Lin; JT Fitzgerald; JB Kum; Charis Eng
Changes in endometrial PTEN expression throughout the human menstrual cycle.
The Journal of clinical endocrinology and metabolism 2000;85(6):2334-8.
2000: Xiao-Ping Zhou; W M Smith; Oliver Gimm; E Mueller; X Gao; pasha sarraf; Thomas W Prior; Christoph Plass; A von Deimling; P M Black; A J Yates; Charis Eng
Over-representation of PPARgamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population.
Journal of medical genetics 2000;37(6):410-4.
2000: Oliver Gimm; Aurel Perren; Liang-Ping Weng; Deborah J Marsh; JJ Yeh; Ulrike Ziebold; EB Gil; Raoul Hinze; Leigh Delbridge; Jacqueline A Lees; George L Mutter; Bruce G Robinson; P Komminoth; Henning Dralle; Charis Eng
Differential nuclear and cytoplasmic expression of PTEN in normal thyroid tissue, and benign and malignant epithelial thyroid tumors.
The American journal of pathology 2000;156(5):1693-700.
2000: Kelly Woodford-Richens; S Bevan; Michael Churchman; B Dowling; D Jones; C G Norbury; Shirley V Hodgson; D Desai; Kay Neale; R K S Phillips; J Young; B Leggett; M Dunlop; P Rozen; Charis Eng; D Markie; MA Rodriguez-Bigas; E Sheridan; T Iwama; Diana Eccles; G T Smith; J C Kim; K M Kim; Julian R Sampson; G Evans; S Tejpar; Walter F Bodmer; Ian P M Tomlinson; richard Houlston
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
Gut 2000;46(5):656-60.
2000: JJ Yeh; Kathryn L Lunetta; Nathalie J van Orsouw; F D Moore; George L Mutter; Jan Vijg; Patricia Dahia; Charis Eng
Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours.
Oncogene 2000;19(16):2060-6.
2000: O Iliopoulos; Charis Eng
Genetic and clinical aspects of familial renal neoplasms.
Seminars in oncology 2000;27(2):138-49.
2000: Xiao-Ping Zhou; Deborah J Marsh; Heather Hampel; J B Mulliken; Oliver Gimm; Charis Eng
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
Human molecular genetics 2000;9(5):765-8.
1999: S Faisal Ahmed; Deborah J Marsh; S Weremowicz; C C Morton; D M Williams; Charis Eng
Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome.
The Journal of clinical endocrinology and metabolism 1999;84(12):4665-70.
1999: JJ Yeh; Deborah J Marsh; Jan Zedenius; Trisha Dwight; Leigh Delbridge; Bruce G Robinson; Charis Eng
Fine-structure deletion mapping of 10q22-24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways.
Genes, chromosomes & cancer 1999;26(4):322-8.
1999: Liang-Ping Weng; WM Smith; Patricia Dahia; Ulrike Ziebold; EB Gil; Jacqueline A Lees; Charis Eng
PTEN suppresses breast cancer cell growth by phosphatase activity-dependent G1 arrest followed by cell death.
Cancer research 1999;59(22):5808-14.
1999: Salud Borrego; ME Sáez; Agustín Ruiz; O Gimm; Manuel López-Alonso; Guillermo Antiñolo; Charis Eng
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.
Journal of medical genetics 1999;36(10):771-4.
1999: Nathalie J van Orsouw; RK Dhanda; Y Elhaji; steven narod; Frederick P Li; Charis Eng; Jan Vijg
A highly accurate, low cost test for BRCA1 mutations.
Journal of medical genetics 1999;36(10):747-53.
1999: Aurel Perren; Liang-Ping Weng; Alexander H Boag; Ulrike Ziebold; K Thakore; Patricia Dahia; P Komminoth; Jacqueline A Lees; Lois M Mulligan; George L Mutter; Charis Eng
Immunohistochemical evidence of loss of PTEN expression in primary ductal adenocarcinomas of the breast.
The American journal of pathology 1999;155(4):1253-60.
1999: E M Duerr; Oliver Gimm; Donna Neuberg; JB Kum; S C Clifford; sergio toledo; E R Maher; Patricia Dahia; Charis Eng
Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations.
The Journal of clinical endocrinology and metabolism 1999;84(9):3207-11.
1999: S Bevan; Kelly Woodford-Richens; P Rozen; Charis Eng; J Young; M Dunlop; Kay Neale; Robin Phillips; D Markie; MA Rodriguez-Bigas; B Leggett; E Sheridan; Shirley Hodgson; T Iwama; Diana Eccles; Walter Bodmer; richard Houlston; Ian Tomlinson
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.
Gut 1999;45(3):406-8.
1999: Steven C Clifford; S Walsh; K Hewson; Elaine K Green; A Brinke; Peter M Green; F Gianelli; Charis Eng; Eamonn R Maher
Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development.
Genes, chromosomes & cancer 1999;26(1):20-8.
1999: Oliver Gimm; A Greco; Cuong Hoang-Vu; Henning Dralle; M A Pierotti; Charis Eng
Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.
The Journal of clinical endocrinology and metabolism 1999;84(8):2784-7.
1999: Deborah J Marsh; JB Kum; Kathryn L Lunetta; M J Bennett; RJ Gorlin; S F Ahmed; J Bodurtha; C Crowe; M A Curtis; Majed Dasouki; T Dunn; H Feit; M T Geraghty; J M Graham; Shirley V Hodgson; A Hunter; Bruce Korf; D Manchester; S Miesfeldt; Victoria Murday; Katherine L Nathanson; M Parisi; B Pober; Corrado Romano; Charis Eng
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Human molecular genetics 1999;8(8):1461-72.
1999: Sapna Syngal; EA Fox; C Li; M Dovidio; Charis Eng; Richard D Kolodner; Judy E Garber
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
JAMA : the journal of the American Medical Association 1999;282(3):247-53.
1999: Virpi V Smith; Charis Eng; Peter J Milla
Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment.
Gut 1999;45(1):143-6.
1999: Anthony Laugé; C Lefebvre; Pierre Laurent-Puig; V Caux; Sophie Gad; Charis Eng; Michel Longy; Dominique Stoppa-Lyonnet
No evidence for germline PTEN mutations in families with breast and brain tumours.
International journal of cancer. Journal international du cancer 1999;84(3):216-9.
1999: pasha sarraf; Elisabetta Mueller; W M Smith; HM Wright; J B Kum; L A Aaltonen; ALBERT DE LA CHAPELLE; Bruce M Spiegelman; Charis Eng
Loss-of-function mutations in PPAR gamma associated with human colon cancer.
Molecular cell 1999;3(6):799-804.
1999: O Gimm; A Gössling; Deborah J Marsh; Patricia Dahia; Lois M Mulligan; A von Deimling; Charis Eng
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.
British journal of cancer 1999;80(3-4):383-6.
1999: Pär-Johan Svensson; Margareta Tapper-Persson; Maria Anvret; ML Molander; Charis Eng; Agneta Nordenskjöld
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.
Clinical genetics 1999;55(3):215-7.
1999: Shirley M Myers; Rémi Salomon; A Goessling; Anna Pelet; Charis Eng; A von Deimling; Stanislas LYONNET; Lois M Mulligan
Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.
Journal of medical genetics 1999;36(3):217-20.
1999: Oliver Gimm; Donna Neuberg; Deborah J Marsh; Patricia Dahia; Cuong Hoang-Vu; F Raue; Raoul Hinze; Henning Dralle; Charis Eng
Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.
Oncogene 1999;18(6):1369-73.
1999: Harriet E Feilotter; V Coulon; J L McVeigh; Alexander H Boag; F Dorion-Bonnet; B Duboué; W C Latham; Charis Eng; Lois M Mulligan; Michel Longy
Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma.
British journal of cancer 1999;79(5-6):718-23.
1999: Patricia Dahia; Ricardo Aguiar; John A Alberta; JB Kum; S Caron; Heinz Sill; Deborah J Marsh; Jerome Ritz; Arnold S Freedman; Charles D Stiles; Charis Eng
PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies.
Human molecular genetics 1999;8(2):185-93.
1999: Charis Eng
The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors.
Recent progress in hormone research 1999;54():441-52; discussion 453.
1999: Charis Eng
RET proto-oncogene in the development of human cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 1999;17(1):380-93.
1998: Roberto T Zori; D J Marsh; G E Graham; E B Marliss; Charis Eng
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
American journal of medical genetics 1998;80(4):399-402.
1998: Charis Eng; Gerry A Thomas; Donna Neuberg; L M Mulligan; Catherine S Healey; Carol Houghton; A Frilling; F Raue; E Dillwyn Williams; Bruce A J Ponder
Mutation of the RET proto-oncogene is correlated with RET immunostaining in subpopulations of cells in sporadic medullary thyroid carcinoma.
The Journal of clinical endocrinology and metabolism 1998;83(12):4310-3.
1998: Charis Eng; Deborah J Marsh; Bruce G Robinson; C W Chow; M A Patton; M C Southey; D J Venter; bruce ponder; Peter J Milla; Virpi V Smith
Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis.
The Journal of clinical endocrinology and metabolism 1998;83(12):4191-4.
1998: Sandra L Dabora; I Sigalas; F Hall; Charis Eng; Jan Vijg; David J Kwiatkowski
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Annals of human genetics 1998;62(Pt 6):491-504.
1998: Michel Longy; V Coulon; B Duboué; A David; Marc Larrègue; Charis Eng; P Amati; Jean-Louis Kraimps; A Bottani; D Lacombe; Dominique Bonneau
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Journal of medical genetics 1998;35(11):886-9.
1998: Deborah J Marsh; Patricia Dahia; S Caron; JB Kum; Ian M Frayling; Ian P M Tomlinson; K S Hughes; RA Eeles; Shirley V Hodgson; Victoria Murday; richard Houlston; Charis Eng
Germline PTEN mutations in Cowden syndrome-like families.
Journal of medical genetics 1998;35(11):881-5.
1998: richard Houlston; S Bevan; A Williams; J Young; M Dunlop; P Rozen; Charis Eng; D Markie; Kelly Woodford-Richens; MA Rodriguez-Bigas; B Leggett; Kay Neale; Robin Phillips; E Sheridan; Shirley Hodgson; T Iwama; Diana Eccles; Walter Bodmer; Ian Tomlinson
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Human molecular genetics 1998;7(12):1907-12.
1998: Robert Somerville; Yigal Shoshan; Charis Eng; Gene Barnett; D Miller; John Kenneth Cowell
Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma multiforme disease progression.
Oncogene 1998;17(13):1755-7.
1998: RK Dhanda; Nathalie J van Orsouw; I Sigalas; Charis Eng; Jan Vijg
Critical factors in the performance and cost of two-dimensional gene scanning: RB1 as a model.
BioTechniques 1998;25(4):664-8, 670, 672-5.
1998: Salud Borrego; Charis Eng; B Sánchez; ME Sáez; E Navarro; Guillermo Antiñolo
Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease.
The Journal of clinical endocrinology and metabolism 1998;83(9):3361-4.
1998: MG FitzGerald; Deborah J Marsh; Doke C R Wahrer; D Bell; S Caron; KE Shannon; Chikashi Ishioka; Kurt J Isselbacher; Judy E Garber; Charis Eng; Daniel A Haber
Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer.
Oncogene 1998;17(6):727-31.
1998: Constantine Straturis; Lawrence S Kirschner; SE Taymans; I P Tomlinson; D J Marsh; David Torpy; Christoforos Giatzakis; D M Eccles; J Theaker; R S Houlston; J L Blouin; Stylianos Antonarakis; Craig T Basson; Charis Eng; J Aidan Carney
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.
The Journal of clinical endocrinology and metabolism 1998;83(8):2972-6.
1998: Pär-Johan Svensson; ML Molander; Charis Eng; Maria Anvret; Agneta Nordenskjöld
Low frequency of RET mutations in Hirschsprung disease in Sweden.
Clinical genetics 1998;54(1):39-44.
1998: Charis Eng; M Peacocke
PTEN and inherited hamartoma-cancer syndromes.
Nature genetics 1998;19(3):223.
1998: R D Rines; Nathalie J van Orsouw; I Sigalas; Frederick P Li; Charis Eng; Jan Vijg
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
Carcinogenesis 1998;19(6):979-84.
1998: Nathalie J van Orsouw; RK Dhanda; R D Rines; W M Smith; I Sigalas; Charis Eng; Jan Vijg
Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests.
Nucleic acids research 1998;26(10):2398-406.
1998: Patricia Dahia; MG FitzGerald; X Zhang; Deborah J Marsh; Z Zheng; T Pietsch; A von Deimling; Frank G Haluska; Daniel A Haber; Charis Eng
A highly conserved processed PTEN pseudogene is located on chromosome band 9p21.
Oncogene 1998;16(18):2403-6.
1998: Charis Eng; H Ji
Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.
American journal of human genetics 1998;62(5):1020-2.
1998: Harriet E Feilotter; M A Nagai; Alexander H Boag; Charis Eng; Lois M Mulligan
Analysis of PTEN and the 10q23 region in primary prostate carcinomas.
Oncogene 1998;16(13):1743-8.
1998: Lois M Mulligan; Tineke Timmer; SM Ivanchuk; Barbara G Campling; LC Young; Pamela Rabbitts; Vasi Sundaresan; Robert M W Hofstra; Charis Eng
Investigation of the genes for RET and its ligand complex, GDNF/GFR alpha-I, in small cell lung carcinoma.
Genes, chromosomes & cancer 1998;21(4):326-32.
1998: Charis Eng
Genetics of Cowden syndrome: through the looking glass of oncology.
International journal of oncology 1998;12(3):701-10.
1998: Deborah J Marsh; V Coulon; Kathryn L Lunetta; P Rocca-Serra; Patricia Dahia; Z Zheng; D Liaw; S Caron; B Duboué; A Y Lin; Andrea L Richardson; J M Bonnetblanc; J M Bressieux; A Cabarrot-Moreau; Agnès Chompret; L Demange; RA Eeles; A M Yahanda; Eric R Fearon; J P Fricker; RJ Gorlin; Shirley V Hodgson; S Huson; D Lacombe; Charis Eng
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Human molecular genetics 1998;7(3):507-15.
1998: Charis Eng; Shirley M Myers; M D Kogon; Michele Sanicola; Cathy Hession; Richard L Cate; Lois M Mulligan
Genomic structure and chromosomal localization of the human GDNFR-alpha gene.
Oncogene 1998;16(5):597-601.
1998: RK Dhanda; W M Smith; C B Scott; Charis Eng; Jan Vijg
A simple system for automated two-dimensional electrophoresis: applications to genetic testing.
Genetic testing 1998;2(1):67-70.
1998: W M Smith; Nathalie J van Orsouw; Edward A Fox; Richard D Kolodner; Jan Vijg; Charis Eng
Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis.
Genetic testing 1998;2(1):43-53.
1998: Deborah J Marsh; Scott D Andrew; Diana L Learoyd; R Pojer; Charis Eng; Bruce G Robinson
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma.
Human mutation 1998;Suppl 1():S3-4.
1998: Deborah J Marsh; Patricia Dahia; V Coulon; Z Zheng; F Dorion-Bonnet; K M Call; R Little; A Y Lin; RA Eeles; A M Goldstein; Shirley V Hodgson; Andrea L Richardson; Bruce G Robinson; H C Weber; Michel Longy; Charis Eng
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.
Genes, chromosomes & cancer 1998;21(1):61-9.
1998: C m Gordon; J A Majzoub; Deborah J Marsh; John B Mulliken; bruce ponder; Bruce G Robinson; Charis Eng
Four cases of mucosal neuroma syndrome: multiple endocrine neoplasm 2B or not 2B?
The Journal of clinical endocrinology and metabolism 1998;83(1):17-20.
1997: Deborah J Marsh; S Roth; Kathryn L Lunetta; Akseli Hemminki; Patricia Dahia; Pertti Sistonen; Z Zheng; S Caron; Nathalie J van Orsouw; Walter F Bodmer; SE Cottrell; Malcolm G Dunlop; Diana Eccles; Shirley V Hodgson; Heikki Järvinen; Ilmo Kellokumpu; D Markie; Kay Neale; Robin Phillips; P Rozen; Sapna Syngal; Jan Vijg; Ian P M Tomlinson; Lauri A Aaltonen; Charis Eng
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Cancer research 1997;57(22):5017-21.
1997: O Gimm; Deborah J Marsh; Scott D Andrew; A Frilling; Patricia Dahia; Lois M Mulligan; J D Zajac; Bruce G Robinson; Charis Eng
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.
The Journal of clinical endocrinology and metabolism 1997;82(11):3902-4.
1997: Patricia Dahia; Deborah J Marsh; Z Zheng; Jan Zedenius; P Komminoth; Tony Frisk; Göran Wallin; R Parsons; Michel Longy; Catharina Larsson; Charis Eng
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.
Cancer research 1997;57(21):4710-3.
1997: HC Tsou; David Teng; XL Ping; V Brancolini; T Davis; R Hu; XX Xie; AC Gruener; CA Schrager; Angela M Christiano; Charis Eng; PA Steck; Jurg Ott; Sean V Tavtigian; M Peacocke
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
American journal of human genetics 1997;61(5):1036-43.
1997: Deborah J Marsh; Z Zheng; A Arnold; Scott D Andrew; Diana L Learoyd; A Frilling; P Komminoth; H P Neumann; bruce ponder; Barrett J Rollins; Geoffrey I Shapiro; Bruce G Robinson; Lois M Mulligan; Charis Eng
Mutation analysis of glial cell line-derived neurotrophic factor, a ligand for an RET/coreceptor complex, in multiple endocrine neoplasia type 2 and sporadic neuroendocrine tumors.
The Journal of clinical endocrinology and metabolism 1997;82(9):3025-8.
1997: Michael P Myers; JP Stolarov; Charis Eng; Jing Li; SI Wang; Michael Wigler; Ramon Parsons; Nicholas K Tonks
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(17):9052-7.
1997: Deborah J Marsh; Patricia Dahia; Z Zheng; D Liaw; Ramon Parsons; RJ Gorlin; Charis Eng
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Nature genetics 1997;16(4):333-4.
1997: Charis Eng
From bench to bedside... but when?
Genome research 1997;7(7):669-72.
1997: Emma R Woodward; Charis Eng; R McMahon; R Voutilainen; Nabeel A Affara; bruce ponder; Eamonn R Maher
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Human molecular genetics 1997;6(7):1051-6.
1997: Charis Eng; K Schneider; Joseph Fraumeni; Frederick P Li
Third international workshop on collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1997;6(5):379-83.
1997: D Liaw; Deborah J Marsh; Jing Li; Patricia Dahia; SI Wang; Z Zheng; S Bose; K M Call; HC Tsou; M Peacocke; Charis Eng; Ramon Parsons
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
Nature genetics 1997;16(1):64-7.
1997: Charis Eng; Jan Vijg
Genetic testing: the problems and the promise.
Nature biotechnology 1997;15(5):422-6.
1997: SM Ivanchuk; Charis Eng; W K Cavenee; Lois M Mulligan
The expression of RET and its multiple splice forms in developing human kidney.
Oncogene 1997;14(15):1811-8.
1997: L M Boccia; J S Green; C Joyce; Charis Eng; Sherryl A M Taylor; Lois M Mulligan
Mutation of RET codon 768 is associated with the FMTC phenotype.
Clinical genetics 1997;51(2):81-5.
1997: Deborah J Marsh; Z Zheng; Jan Zedenius; H Kremer; G W Padberg; C Larsson; Michel Longy; Charis Eng
Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas.
Cancer research 1997;57(3):500-3.
1997: Patricia Dahia; sergio toledo; Lois M Mulligan; E R Maher; A B Grossman; Charis Eng
Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.
Cancer research 1997;57(2):310-3.
1997: Hartmut P H Neumann; Bernhard U Bender; Andrzej Januszewicz; G Janetschek; Charis Eng
Inherited pheochromocytoma.
Advances in nephrology from the Necker Hospital 1997;27():361-76.
1997: D J Marsh; Lois M Mulligan; Charis Eng
RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma.
Hormone research 1997;47(4-6):168-78.
1997: Charis Eng; L M Mulligan
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.
Human mutation 1997;9(2):97-109.
1997: I Schuffenecker; N Ginet; David E Goldgar; Charis Eng; Béatrice Chambe; A Boneu; C Houdent; D Pallo; Martin Schlumberger; C Thivolet; Gilbert M Lenoir
Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.
American journal of human genetics 1997;60(1):233-7.
1996: S M Ivanchuk; Shirley M Myers; Charis Eng; Lois M Mulligan
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
Human molecular genetics 1996;5(12):2023-6.
1996: Charis Eng; D Clayton; I Schuffenecker; G Lenoir; G Cote; R F Gagel; H K van Amstel; C J Lips; I Nishisho; S I Takai; Deborah J Marsh; Bruce G Robinson; K Frank-Raue; F Raue; F Xue; Walter W Noll; C Romei; F Pacini; M Fink; B Niederle; Jan Zedenius; M Nordenskjöld; P Komminoth; G N Hendy; Lois M Mulligan
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
JAMA : the journal of the American Medical Association 1996;276(19):1575-9.
1996: Rémi Salomon; Tania Attié; Anna Pelet; C Bidaud; Charis Eng; Jeanne Amiel; Sabine Sarnacki; Olivier Goulet; Claude Ricour; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nature genetics 1996;14(3):345-7.
1996: Charis Eng
Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease.
The New England journal of medicine 1996;335(13):943-51.
1996: Hartmut P H Neumann; B Bender; Ingeborg Zäuner; Dietmar P Berger; Charis Eng; H Brauch; B Zbar
Monogenetic hypertension and pheochromocytoma.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1996;28(3):329-33.
1996: Charis Eng; K A Foster; Catherine S Healey; Carol Houghton; Simon A Gayther; Lois M Mulligan; Bruce A J Ponder
Mutation analysis of the c-mos proto-oncogene and the endothelin-B receptor gene in medullary thyroid carcinoma and phaeochromocytoma.
British journal of cancer 1996;74(3):339-41.
1996: N J Van Orsouw; D Li; Pieter van der Vlies; Hans Scheffer; Charis Eng; Charles H C M Buys; Frederick P Li; Jan Vijg
Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.
Human molecular genetics 1996;5(6):755-61.
1996: M R Nelen; George W Padberg; E A Peeters; A Y Lin; Bellinda van den Helm; Rune R Frants; V Coulon; A M Goldstein; M van Reen; D F Easton; R A Eeles; S Hodgsen; J J Mulvihill; Victoria Murday; M A Tucker; Edwin C M Mariman; T M Starink; bruce ponder; Hans-Hilger Ropers; Hannie Kremer; Michel Longy; Charis Eng
Localization of the gene for Cowden disease to chromosome 10q22-23.
Nature genetics 1996;13(1):114-6.
1996: Charis Eng; Lois M Mulligan; Catherine S Healey; Carol Houghton; A Frilling; F Raue; Gerry A Thomas; Bruce A J Ponder
Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma.
Cancer research 1996;56(9):2167-70.
1996: P Edery; Tania Attié; Jeanne Amiel; Anna Pelet; Charis Eng; R M Hofstra; H Martelli; C Bidaud; Arnold Munnich; Stanislas LYONNET
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):442-4.
1996: Deborah J Marsh; Scott D Andrew; Charis Eng; Diana L Learoyd; A G Capes; R Pojer; A L Richardson; Carol Houghton; Lois M Mulligan; Bruce A J Ponder; Bruce G Robinson
Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma.
Cancer research 1996;56(6):1241-3.
1996: Deborah J Marsh; Diana L Learoyd; Scott D Andrew; L Krishnan; R Pojer; A L Richardson; Leigh Delbridge; Charis Eng; Bruce G Robinson
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma.
Clinical endocrinology 1996;44(3):249-57.
1995: Charis Eng; P A Crossey; Lois M Mulligan; Catherine S Healey; Carol Houghton; A Prowse; Shern L Chew; Patricia Dahia; J L O'Riordan; sergio toledo
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
Journal of medical genetics 1995;32(12):934-7.
1995: L F Reynolds; Charis Eng
RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.
Current opinion in pediatrics 1995;7(6):702-9.
1995: Shirley M Myers; Charis Eng; B A Ponder; Lois M Mulligan
Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET.
Oncogene 1995;11(10):2039-45.
1995: P A Crossey; Charis Eng; M Ginalska-Malinowska; T W Lennard; D C Wheeler; bruce ponder; E R Maher
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
Journal of medical genetics 1995;32(11):885-6.
1995: Hartmut P H Neumann; Charis Eng; Lois M Mulligan; D Glavac; Ingeborg Zäuner; B A Ponder; P A Crossey; Eamonn R Maher; H Brauch
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
JAMA : the journal of the American Medical Association 1995;274(14):1149-51.
1995: Tania Attié; Anna Pelet; P Edery; Charis Eng; Lois M Mulligan; Jeanne Amiel; L Boutrand; C Beldjord; C Nihoul-Fékété; Arnold Munnich
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics 1995;4(8):1381-6.
1995: Charis Eng; Lois M Mulligan; D P Smith; Catherine S Healey; A Frilling; F Raue; H P Neumann; M A Ponder; Bruce A J Ponder
Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma.
Clinical endocrinology 1995;43(1):123-7.
1995: M J Lorenzo; Charis Eng; Lois M Mulligan; T J Stonehouse; Catherine S Healey; Bruce A J Ponder; D P Smith
Multiple mRNA isoforms of the human RET proto-oncogene generated by alternate splicing.
Oncogene 1995;10(7):1377-83.
1995: Charis Eng; Lois M Mulligan; D P Smith; Catherine S Healey; A Frilling; F Raue; H P Neumann; Roswitha Pfragner; Annemarie Behmel; M J Lorenzo
Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma.
Genes, chromosomes & cancer 1995;12(3):209-12.
1995: Zhou Songyang; Kermit L Carraway; Michael J Eck; S C Harrison; Ricardo A Feldman; Moosa Mohammadi; Joseph Schlessinger; Stevan Hubbard; D P Smith; Charis Eng
Catalytic specificity of protein-tyrosine kinases is critical for selective signalling.
Nature 1995;373(6514):536-9.
1995: Charis Eng; D P Smith; Lois M Mulligan; Catherine S Healey; Marketa Zvelebil; T J Stonehouse; M A Ponder; C E Jackson; M D Waterfield; Bruce A J Ponder
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
Oncogene 1995;10(3):509-13.
1994: Anna Pelet; T Attie; O Goulet; Charis Eng; B A Ponder; Arnold Munnich; Stanislas LYONNET
De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.
Lancet 1994;344(8939-8940):1769-70.
1994: Lois M Mulligan; Charis Eng; Tania Attié; Stanislas LYONNET; Deborah J Marsh; V J Hyland; Bruce G Robinson; A Frilling; C Verellen-Dumoulin; A Safar
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
Human molecular genetics 1994;3(12):2163-7.
1994: P Edery; Tania Attié; Lois M Mulligan; Anna Pelet; Charis Eng; B A Ponder; Arnold Munnich; Stanislas LYONNET
A novel polymorphism in the coding sequence of the human RET proto-oncogene.
Human genetics 1994;94(5):579-80.
1994: E Gardner; Lois M Mulligan; Charis Eng; Catherine S Healey; J B Kwok; M A Ponder; Bruce A J Ponder
Haplotype analysis of MEN 2 mutations.
Human molecular genetics 1994;3(10):1771-4.
1994: T Attie; Anna Pelet; P Sarda; Charis Eng; P Edery; Lois M Mulligan; B A Ponder; Arnold Munnich; Stanislas LYONNET
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.
Human molecular genetics 1994;3(8):1439-40.
1994: Charis Eng; Victoria Murday; S Seal; S Mohammed; Shirley V Hodgson; M A Chaudary; I S Fentiman; Bruce A J Ponder; R A Eeles
Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
Journal of medical genetics 1994;31(6):458-61.
1994: Lois M Mulligan; Charis Eng; Catherine S Healey; M A Ponder; Gerald L Feldman; P Li; C E Jackson; Bruce A J Ponder
A de novo mutation of the RET proto-oncogene in a patient with MEN 2A.
Human molecular genetics 1994;3(6):1007-8.
1994: Charis Eng; Michael Stratton; Bruce A J Ponder; Victoria Murday; Douglas Easton; N Sacks; M Watson; R Eeles
Familial cancer syndromes.
Lancet 1994;343(8899):709-13.
1994: Charis Eng; D P Smith; Lois M Mulligan; M A Nagai; Catherine S Healey; M A Ponder; E Gardner; G F Scheumann; C E Jackson; A Tunnacliffe
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.
Human molecular genetics 1994;3(2):237-41.
1994: Lois M Mulligan; Charis Eng; Catherine S Healey; D Clayton; J B Kwok; E Gardner; M A Ponder; A Frilling; C E Jackson; H Lehnert
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
Nature genetics 1994;6(1):70-4.
1994: D P Smith; Charis Eng; Bruce A J Ponder
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease.
Journal of cell science. Supplement 1994;18():43-9.
1993: Charis Eng; Frederick P Li; David H. Abramson; R M Ellsworth; F L Wong; Marlene B Goldman; Johanna M Seddon; Nancy J Tarbell; John D Boice
Mortality from second tumors among long-term survivors of retinoblastoma.
Journal of the National Cancer Institute 1993;85(14):1121-8.
1993: Charis Eng; D Cunningham; Bradley J Quade; lee schwamm; Philip W Kantoff; Arthur T Skarin
Meningeal carcinomatosis from transitional cell carcinoma of the bladder.
Cancer 1993;72(2):553-7.
1993: Charis Eng; S J Spechler; R Ruben; Frederick P Li
Familial Barrett esophagus and adenocarcinoma of the gastroesophageal junction.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1993;2(4):397-9.
1993: Charis Eng; Bruce A J Ponder
The role of gene mutations in the genesis of familial cancers.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1993;7(10):910-9.
1993: Lois M Mulligan; J B Kwok; Catherine S Healey; M J Elsdon; Charis Eng; E Gardner; Donald R Love; S E Mole; J K Moore; L Papi
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
Nature 1993;363(6428):458-60.
1992: Charis Eng; Francis A Farraye; Larry N Shulman; M A Peppercorn; C M Krauss; J M Connors; Richard M Stone
The association between the myelodysplastic syndromes and Crohn disease.
Annals of internal medicine 1992;117(8):661-2.
1992: Charis Eng
Thoracic adenopathy: metastatic seminoma or sarcoid?
Hospital practice (Office ed.) 1992;27(6):208-10.
1990: Charis Eng; A E Skolnick; Steven E Come
Elevated creatine kinase and malignancy.
Hospital practice (Office ed.) 1990;25(12):123, 126, 129-30.