Charis Eng

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Erlic Zoran; Rybicki Lisa; Peczkowska Mariola; Golcher Henriette; Kann Peter H; Brauckhoff Michael; Müssig Karsten; Muresan Michaela; Schäffler Andreas; Reisch Nicole; Schott Matthias; Fassnacht Martin; Opocher Giuseppe; Klose Silke; Fottner Christian; Forrer Flavio; Plöckinger Ursula; Petersenn Stephan; Zabolotny Dimitry; Kollukch Oleg; Yaremchuk Svetlana; Januszewicz Andrzej; Walz Martin K; Eng Charis; Neumann Hartmut P H;
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.
Bekaii-Saab Tanios; Markowitz Joseph; Prescott Nichole; Sadee Wolfgang; Heerema Nyla; Wei Lai; Dai Zunyan; Papp Audrey; Campbell Angela; Culler Kristy; Balint Catherine; O'Neil Bert; Lee Ruey-Min; Zalupski Mark; Dancey Janet; Chen Helen; Grever Michael; Eng Charis; Villalona-Calero Miguel
A multi-institutional phase II study of the efficacy and tolerability of lapatinib in patients with advanced hepatocellular carcinomas.
Eng Charis; Leone Gustavo; Orloff Mohammed S; Ostrowski Michael C
Genomic alterations in tumor stroma.

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All Publications

2009: Erlic Zoran; Rybicki Lisa; Peczkowska Mariola; Golcher Henriette; Kann Peter H; Brauckhoff Michael; Müssig Karsten; Muresan Michaela; Schäffler Andreas; Reisch Nicole; Schott Matthias; Fassnacht Martin; Opocher Giuseppe; Klose Silke; Fottner Christian; Forrer Flavio; Plöckinger Ursula; Petersenn Stephan; Zabolotny Dimitry; Kollukch Oleg; Yaremchuk Svetlana; Januszewicz Andrzej; Walz Martin K; Eng Charis; Neumann Hartmut P H;
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: Bekaii-Saab Tanios; Markowitz Joseph; Prescott Nichole; Sadee Wolfgang; Heerema Nyla; Wei Lai; Dai Zunyan; Papp Audrey; Campbell Angela; Culler Kristy; Balint Catherine; O'Neil Bert; Lee Ruey-Min; Zalupski Mark; Dancey Janet; Chen Helen; Grever Michael; Eng Charis; Villalona-Calero Miguel
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: Eng Charis; Leone Gustavo; Orloff Mohammed S; Ostrowski Michael C
Genomic alterations in tumor stroma.
Cancer research 2009;69(17):6759-64.
2009: Neumann Hartmut P H; Eng Charis
The approach to the patient with paraganglioma.
The Journal of clinical endocrinology and metabolism 2009;94(8):2677-83.
2009: Jacob Abraham I; Romigh Todd; Waite Kristin A; Eng Charis
Nuclear PTEN levels and G2 progression in melanoma cells.
Melanoma research 2009;19(4):203-10.
2009: Lobo Glenn P; Waite Kristin A; Planchon Sarah M; Romigh Todd; Nassif Najah T; Eng Charis
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: Kloos Richard T; Eng Charis; Evans Douglas B; Francis Gary L; Gagel Robert F; Gharib Hossein; Moley Jeffrey F; Pacini Furio; Ringel Matthew D; Schlumberger Martin; Wells Samuel A
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
Thyroid : official journal of the American Thyroid Association 2009;19(6):565-612.
2009: Boedeker Carsten C; Erlic Zoran; Richard Stéphane; Kontny Udo; Gimenez-Roqueplo Anne-Paule; Cascon Alberto; Robledo Mercedes; de Campos José M; van Nederveen Francien H; de Krijger Ronald R; Burnichon Nelly; Gaal José; Walter Martin A; Reschke Kirsten; Wiech Thorsten; Weber Johannes; Rückauer Klaus; Plouin Pierre Francois; Darrouzet Vincent; Giraud Sophie; Eng Charis; Neumann Hartmut P H
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: Zhao Yongzhong; Marotta Michael; Eichler Evan E; Eng Charis; Tanaka Hisashi
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: Crouser Elliott D; Culver Daniel A; Knox Kenneth S; Julian Mark W; Shao Guohong; Abraham Susamma; Liyanarachchi Sandya; Macre Jennifer E; Wewers Mark D; Gavrilin Mikhail A; Ross Patrick; Abbas Abbas; Eng Charis
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: Neumann Hartmut P H; Erlic Zoran; Boedeker Carsten C; Rybicki Lisa A; Robledo Mercedes; Hermsen Mario; Schiavi Francesca; Falcioni Maurizio; Kwok Pingling; Bauters Catherine; Lampe Karen; Fischer Markus; Edelman Emily; Benn Diana E; Robinson Bruce G; Wiegand Stefanie; Rasp Gerd; Stuck Boris A; Hoffmann Michael M; Sullivan Maren; Sevilla Maria A; Weiss Marjan M; Peczkowska Mariola; Kubaszek Agata; Pigny Pascal; Ward Robyn L; Learoyd Diana; Croxson Michael; Zabolotny Dmitry; Yaremchuk Svetlana; Draf Wolfgang; Muresan Mihaela; Lorenz Robert R; Knipping Stephan; Strohm Michael; Dyckhoff Gerhard; Matthias Christoph; Reisch Nicole; Preuss Simon F; Esser Dirk; Walter Martin A; Kaftan Holger; Stöver Timo; Fottner Christian; Gorgulla Harald; Malekpour Mahdi; Zarandy Masoud Motasaddi; Schipper Jörg; Brase Christoph; Glien Alexander; Kühnemund Matthias; Koscielny Sven; Schwerdtfeger Peter; Välimäki Matti; Szyfter Witold; Finckh Ulrich; Zerres Klaus; Cascon Alberto; Opocher Giuseppe; Ridder Gerd J; Januszewicz Andrzej; Suarez Carlos; Eng Charis
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: Bennett Kristi L; Romigh Todd; Arab Khelifa; Teresi Rosemary E; Tada Yasuhiro; Eng Charis; Plass Christoph
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: Lin Ming-Chieh; Lomo Lesley; Baak Jan P A; Eng Charis; Ince Tan A; Crum Christopher P; Mutter George L
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: Jacob A I; Waite K A; Eng C
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: Bennett Kristi L; Romigh Todd; Eng Charis
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: Peczkowska Mariola; Erlic Zoran; Hoffmann Michael M; Furmanek Mariusz; Cwikla Jaroslaw; Kubaszek Agata; Prejbisz Aleksander; Szutkowski Zbigniew; Kawecki Andrzej; Chojnowski Krzysztof; Lewczuk Anna; Litwin Mieczyslaw; Szyfter Witold; Walter Martin A; Sullivan Maren; Eng Charis; Januszewicz Andrzej; Neumann Hartmut P H
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: Milos Ioana N; Frank-Raue Karin; Wohllk Nelson; Maia Ana Luiza; Pusiol Eduardo; Patocs Attila; Robledo Mercedes; Biarnes Josefina; Barontini Marta; Links Thera P; de Groot Jan Willem; Dvorakova Sarka; Peczkowska Mariola; Rybicki Lisa A; Sullivan Maren; Raue Friedhelm; Zosin Ioana; Eng Charis; Neumann Hartmut P H
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: Eng Charis
Microenvironmental protection in diffuse large-B-cell lymphoma.
The New England journal of medicine 2008;359(22):2379-81.
2008: Villalona-Calero M A; Otterson G A; Wientjes M G; Weber F; Bekaii-Saab T; Young D; Murgo A J; Jensen R; Yeh T-K; Wei Y; Zhang Y; Eng C; Grever M; Au J L-S
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: Eng Charis
Cancer: A ringleader identified.
Nature 2008;455(7215):883-4.
2008: Rigelsky Christina M; Jennings Constance; Lehtonen Rainer; Minai Omar A; Eng Charis; Aldred Micheala A
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: Orloff M S; Eng C
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
Oncogene 2008;27(41):5387-97.
2008: Eng Charis
SDHB--a gene for all tumors?
Journal of the National Cancer Institute 2008;100(17):1193-5.
2008: Lobo Glenn P; Waite Kristin A; Planchon Sarah M; Romigh Todd; Houghton Janet A; Eng Charis
ATP modulates PTEN subcellular localization in multiple cancer cell lines.
Human molecular genetics 2008;17(18):2877-85.
2008: Ni Ying; Zbuk Kevin M; Sadler Tammy; Patocs Attila; Lobo Glenn; Edelman Emily; Platzer Petra; Orloff Mohammed S; Waite Kristin A; Eng Charis
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: Cho Mee-Yon; Kim Hyun Soo; Eng Charis; Kim Dae Sung; Kang Seong Joon; Eom Minseob; Yi Sang Yeop; Bronner Mary P
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: Plon Sharon E; Pirics Michael L; Nuchtern Jed; Hicks John; Russell Heidi; Agrawal Shipra; Zbuk Kevin; Eng Charis; Hegde Madhuri; Chin Ephrem Lip-Hon
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: Ahvenainen Taru; Lehtonen Heli J; Lehtonen Rainer; Vahteristo Pia; Aittomäki Kristiina; Baynam Gareth; Dommering Charlotte; Eng Charis; Gruber Stephen B; Grönberg Henrik; Harvima Rauno; Herva Riitta; Hietala Marja; Kujala Minna; Kääriäinen Helena; Sunde Lone; Vierimaa Outi; Pollard Patrick J; Tomlinson Ian P M; Björck Erik; Aaltonen Lauri A; Launonen Virpi
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: Pezzolesi Marcus G; Platzer Petra; Waite Kristin A; Eng Charis
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: Sarquis Marta S; Silveira Leticia G; Pimenta Flavio J; Dias Eduardo P; Teh Bin T; Friedman Eitan; Gomez Ricardo S; Tavares Gabriela C; Eng Charis; De Marco Luiz
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.
Surgery 2008;143(5):630-40.
2008: Triozzi Pierre L; Eng Charis; Singh Arun D
Targeted therapy for uveal melanoma.
Cancer treatment reviews 2008;34(3):247-58.
2008: Ji Jianguang; Eng Charis; Hemminki Kari
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: Alhopuro Pia; Phichith Denis; Tuupanen Sari; Sammalkorpi Heli; Nybondas Miranda; Saharinen Juha; Robinson James P; Yang Zhaohui; Chen Li-Qiong; Orntoft Torben; Mecklin Jukka-Pekka; Järvinen Heikki; Eng Charis; Moeslein Gabriela; Shibata Darryl; Houlston Richard S; Lucassen Anneke; Tomlinson Ian P M; Launonen Virpi; Ristimäki Ari; Arango Diego; Karhu Auli; Sweeney H Lee; Aaltonen Lauri A
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: Weber Frank; Eng Charis
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: Assié Guillaume; LaFramboise Thomas; Platzer Petra; Bertherat Jérôme; Stratakis Constantine A; Eng Charis
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: Teresi Rosemary E; Planchon Sarah M; Waite Kristin A; Eng Charis
Regulation of the PTEN promoter by statins and SREBP.
Human molecular genetics 2008;17(7):919-28.
2008: Cascón A; Landa I; López-Jiménez E; Díez-Hernández A; Buchta M; Montero-Conde C; Leskelä S; Leandro-García L J; Letón R; Rodríguez-Antona C; Eng C; Neumann H P H; Robledo M
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Journal of medical genetics 2008;45(4):233-8.
2008: Assié Guillaume; LaFramboise Thomas; Platzer Petra; Eng Charis
Frequency of germline genomic homozygosity associated with cancer cases.
JAMA : the journal of the American Medical Association 2008;299(12):1437-45.
2008: Trimboli Anthony J; Fukino Koichi; de Bruin Alain; Wei Guo; Shen Lei; Tanner Stephan M; Creasap Nicholas; Rosol Thomas J; Robinson Michael L; Eng Charis; Ostrowski Michael C; Leone Gustavo
Direct evidence for epithelial-mesenchymal transitions in breast cancer.
Cancer research 2008;68(3):937-45.
2008: Planchon Sarah M; Waite Kristin A; Eng Charis
The nuclear affairs of PTEN.
Journal of cell science 2008;121(Pt 3):249-53.
2008: Peczkowska Mariola; Cascon Alberto; Prejbisz Aleksander; Kubaszek Agata; Cwikla B Jaroslaw; Furmanek Mariusz; Erlic Zoran; Eng Charis; Januszewicz Andrzej; Neumann Hartmut P H
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.
Nature clinical practice. Endocrinology & metabolism 2008;4(2):111-5.
2008: Pasini Barbara; McWhinney Sarah R; Bei Thalia; Matyakhina Ludmila; Stergiopoulos Sotirios; Muchow Michael; Boikos Sosipatros A; Ferrando Barbara; Pacak Karel; Assie Guillaume; Baudin Eric; Chompret Agnes; Ellison Jay W; Briere Jean-Jacques; Rustin Pierre; Gimenez-Roqueplo Anne-Paule; Eng Charis; Carney J Aidan; Stratakis Constantine A
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: Patocs Attila; Zhang Li; Xu Yaomin; Weber Frank; Caldes Trinidad; Mutter George L; Platzer Petra; Eng Charis
Breast-cancer stromal cells with TP53 mutations and nodal metastases.
The New England journal of medicine 2007;357(25):2543-51.
2007: Heald Brandie; Moran Rocio; Milas Mira; Burke Carol; Eng Charis
Familial adenomatous polyposis in a patient with unexplained mental retardation.
Nature clinical practice. Neurology 2007;3(12):694-700.
2007: Zembowicz Artur; Knoepp Stewart M; Bei Thalia; Stergiopoulos Sotirios; Eng Charis; Mihm Martin C; Stratakis Constantine A
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: Gustafson Shanna; Zbuk Kevin M; Scacheri Cheryl; Eng Charis
Cowden syndrome.
Seminars in oncology 2007;34(5):428-34.
2007: Zbuk Kevin M; Patocs Attila; Shealy Amy; Sylvester Heather; Miesfeldt Susan; Eng Charis
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: Teresi Rosemary E; Zbuk Kevin M; Pezzolesi Marcus G; Waite Kristin A; Eng Charis
Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.
American journal of human genetics 2007;81(4):756-67.
2007: Kotsopoulos Joanne; Lubinski Jan; Lynch Henry T; Klijn Jan; Ghadirian Parviz; Neuhausen Susan L; Kim-Sing Charmaine; Foulkes William D; Moller Pal; Isaacs Claudine; Domchek Susan; Randall Susan; Offit Kenneth; Tung Nadine; Ainsworth Peter; Gershoni-Baruch Ruth; Eisen Andrea; Daly Mary; Karlan Beth; Saal Howard M; Couch Fergus; Pasini Barbara; Wagner Teresa; Friedman Eitan; Rennert Gad; Eng Charis; Weitzel Jeffrey; Sun Ping; Narod Steven A; Garber J; Osborne M; Fishman D; McLennan J; McKinnon W; Merajver S; Olsson H; Provencher D; Pasche B; Evans G; Meschino W S; Lemire E; Chudley A; Rayson D; Bellati C
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: Neumann Hartmut P H; Vortmeyer Alexander; Schmidt Dieter; Werner Martin; Erlic Zoran; Cascon Alberto; Bausch Birke; Januszewicz Andrzej; Eng Charis
Evidence of MEN-2 in the original description of classic pheochromocytoma.
The New England journal of medicine 2007;357(13):1311-5.
2007: Zbuk Kevin M; Eng Charis
Hamartomatous polyposis syndromes.
Nature clinical practice. Gastroenterology & hepatology 2007;4(9):492-502.
2007: Matyakhina Ludmila; Bei Thalia A; McWhinney Sarah R; Pasini Barbara; Cameron Silke; Gunawan Bastian; Stergiopoulos Sotirios G; Boikos Sosipatros; Muchow Michael; Dutra Amalia; Pak Evgenia; Campo Elias; Cid Maria C; Gomez Fulgencio; Gaillard Rolf C; Assie Guillaume; Füzesi Laszlo; Baysal Bora E; Eng Charis; Carney J Aidan; Stratakis Constantine A
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: Heald Brandie; Hilden Joanne M; Zbuk Kevin; Norton Alice; Vyas Paresh; Theil Karl S; Eng Charis
Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome.
Nature clinical practice. Oncology 2007;4(7):433-8.
2007: Ochs-Balcom Heather M; Falk Gary; Grady William M; Kinnard Margaret; Willis Joseph; Elston Robert; Eng Charis; Chak Amitabh
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: Pinzone Joseph J; Eng Charis; Paik Julie; Brindle Kathleen A; Ringel Matthew D; Katz James D
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: Bausch Birke; Borozdin Wiktor; Mautner Victor F; Hoffmann Michael M; Boehm Detlef; Robledo Mercedes; Cascon Alberto; Harenberg Tomas; Schiavi Francesca; Pawlu Christian; Peczkowska Mariola; Letizia Claudio; Calvieri Stefano; Arnaldi Giorgio; Klingenberg-Noftz Rolf D; Reisch Nicole; Fassina Ambrogio; Brunaud Laurent; Walter Martin A; Mannelli Massimo; MacGregor Graham; Palazzo F Fausto; Barontini Marta; Walz Martin K; Kremens Bernhard; Brabant Georg; Pfäffle Roland; Koschker Ann-Cathrin; Lohoefner Felix; Mohaupt Markus; Gimm Oliver; Jarzab Barbara; McWhinney Sarah R; Opocher Giuseppe; Januszewicz Andrzej; Kohlhase Jürgen; Eng Charis; Neumann Hartmut P H;
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: Bennett Kristi L; Hackanson Björn; Smith Laura T; Morrison Carl D; Lang James C; Schuller David E; Weber Frank; Eng Charis; Plass Christoph
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: Fukino Koichi; Shen Lei; Patocs Attila; Mutter George L; Eng Charis
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: Alvarez-Breckenridge Christopher A; Waite Kristin A; Eng Charis
PTEN regulates phospholipase D and phospholipase C.
Human molecular genetics 2007;16(10):1157-63.
2007: Pezzolesi Marcus G; Zbuk Kevin M; Waite Kristin A; Eng Charis
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: Minai Omar A; Rigelsky Christina; Eng Charis; Arroliga Alejandro C; Stoller James K
Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia.
Chest 2007;131(4):984-7.
2007: Zbuk Kevin M; Eng Charis
Predicting response to EGFR-tyrosine kinase inhibitors among diverse ancestries: just way too polymorphic.
Cancer biology & therapy 2007;6(1):112-5.
2007: Shen Wen Hong; Balajee Adayabalam S; Wang Jianli; Wu Hong; Eng Charis; Pandolfi Pier Paolo; Yin Yuxin
Essential role for nuclear PTEN in maintaining chromosomal integrity.
Cell 2007;128(1):157-70.
2007: Weber Frank; Xu Yaomin; Zhang Li; Patocs Attila; Shen Lei; Platzer Petra; Eng Charis
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: Yee Lisa D; Williams Nita; Wen Ping; Young Donn C; Lester Joanne; Johnson Maria V; Farrar William B; Walker Michael J; Povoski Stephen P; Suster Saul; Eng Charis
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: Zbuk Kevin M; Eng Charis
Cancer phenomics: RET and PTEN as illustrative models.
Nature reviews. Cancer 2007;7(1):35-45.
2007: Wang Zailong; Yan Pearlly; Potter Dustin; Eng Charis; Huang Tim H-M; Lin Shili
Heritable clustering and pathway discovery in breast cancer integrating epigenetic and phenotypic data.
BMC bioinformatics 2007;8():38.
2006: Minaguchi Takeo; Waite Kristin A; Eng Charis
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: Yan Pearlly S; Venkataramu Chinnambally; Ibrahim Ashraf; Liu Joseph C; Shen Rulong Z; Diaz Nils M; Centeno Barbara; Weber Frank; Leu Yu-Wei; Shapiro Charles L; Eng Charis; Yeatman Timothy J; Huang Tim H-M
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: Ruiz-Ferrer Macarena; Fernández Raquel M; Antiñolo Guillermo; López-Alonso Manuel; Eng Charis; Borrego Salud
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: Pezzolesi Marcus G; Li Yan; Zhou Xiao-Ping; Pilarski Robert; Shen Lei; Eng Charis
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: Chak Amitabh; Faulx Ashley; Eng Charis; Grady William; Kinnard Margaret; Ochs-Balcom Heather; Falk Gary
Gastroesophageal reflux symptoms in patients with adenocarcinoma of the esophagus or cardia.
Cancer 2006;107(9):2160-6.
2006: Aldred Micheala A; Eng Charis
SNP'ing at nasopharyngeal cancer susceptibility: for whom the bell TOLLs.
Cancer biology & therapy 2006;5(10):1292-3.
2006: Chak Amitabh; Ochs-Balcom Heather; Falk Gary; Grady William M; Kinnard Margaret; Willis Joseph E; Elston Robert; Eng Charis
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: Chung Ji-Hyun; Ostrowski Michael C; Romigh Todd; Minaguchi Takeo; Waite Kristin A; Eng Charis
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: Weber Frank; Teresi Rosemary E; Broelsch Christoph E; Frilling Andrea; Eng Charis
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: Bausch Birke; Koschker Ann-Cathrin; Fassnacht Martin; Stoevesandt Johanna; Hoffmann Michael M; Eng Charis; Allolio Bruno; Neumann Hartmut P H
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma.
The Journal of clinical endocrinology and metabolism 2006;91(9):3478-81.
2006: Bausch Birke; Boedeker Carsten C; Berlis Ansgar; Brink Ingo; Cybulla Markus; Walz Martin K; Januszewicz Andrzej; Letizia Claudio; Opocher Giuseppe; Eng Charis; Neumann Hartmut P H
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: Finch Amy; Beiner Mario; Lubinski Jan; Lynch Henry T; Moller Pal; Rosen Barry; Murphy Joan; Ghadirian Parviz; Friedman Eitan; Foulkes William D; Kim-Sing Charmaine; Wagner Teresa; Tung Nadine; Couch Fergus; Stoppa-Lyonnet Dominique; Ainsworth Peter; Daly Mary; Pasini Babara; Gershoni-Baruch Ruth; Eng Charis; Olopade Olufunmilayo I; McLennan Jane; Karlan Beth; Weitzel Jeffrey; Sun Ping; Narod Steven A;
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: Sarquis Marta S; Agrawal Shipra; Shen Lei; Pilarski Robert; Zhou Xiao-Ping; Eng Charis
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: Tekin Mustafa; Hismi Burcu Oztürk; Fitoz Suat; Yalçinkaya Fatos; Ekim Mesiha; Kansu Aydan; Ertem Mehmet; Deda Gülhis; Tutar Ercan; Arsan Saadet; Zhou Xiao-Ping; Pilarski Robert; Eng Charis; Akar Nejat
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: Tang Yufang; Eng Charis
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: Delnatte Capucine; Sanlaville Damien; Mougenot Jean-Francois; Vermeesch Joris-Robert; Houdayer Claude; Blois Marie-Christine de; Genevieve David; Goulet Olivier; Fryns Jean-Pierre; Jaubert Francis; Vekemans Michel; Lyonnet Stanislas; Romana Serge; Eng Charis; Stoppa-Lyonnet Dominique
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: Weber Frank; Shen Lei; Fukino Koichi; Patocs Attila; Mutter George L; Caldes Trinidad; Eng Charis
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: Teresi Rosemary E; Shaiu Chung-Wai; Chen Ching-Shih; Chatterjee V Krishna; Waite Kristin A; Eng Charis
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: Lim L C; Tan M H; Eng C; Teh B T; Rajasoorya R C
Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention.
Journal of internal medicine 2006;259(4):428-32.
2006: Agrawal Shipra; Eng Charis
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: Daly Mary B; Axilbund Jennifer E; Bryant Eileen; Buys Saundra; Eng Charis; Friedman Susan; Esserman Laura J; Farrell Carolyn D; Ford James M; Garber Judy E; Jeter Joanne M; Kohlmann Wendy; Lynch Patrick M; Marcom P Kelly; Nabell Lisle M; Offit Kenneth; Osarogiagbon Raymond U; Pasche Boris; Reiser Gwen; Sutphen Rebecca; Weitzel Jeffrey N;
Genetic/familial high-risk assessment: breast and ovarian.
Journal of the National Comprehensive Cancer Network : JNCCN 2006;4(2):156-76.
2006: Tang Yufang; Eng Charis
PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner.
Cancer research 2006;66(2):736-42.
2006: Patterson Annette R; Leitch A Marilyn; Weatherall Paul; Zhou Xiao-Ping; Eng Charis; Tomlinson Gail E
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: Abdel-Rahman Mohamed H; Yang Ying; Zhou Xiao-Ping; Craig Elson L; Davidorf Frederick H; Eng Charis
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: Perry Colin G; Young William F; McWhinney Sarah R; Bei Thalia; Stergiopoulos Sotirios; Knudson Ryan A; Ketterling Rhett P; Eng Charis; Stratakis Constantine A; Carney J Aidan
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: Sarquis Marta S; Weber Frank; Shen Lei; Broelsch Christoph E; Jhiang Sissy M; Zedenius Jan; Frilling Andrea; Eng Charis
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: Nkondjock André; Ghadirian Parviz; Kotsopoulos Joanne; Lubinski Jan; Lynch Henry; Kim-Sing Charmaine; Horsman Douglas; Rosen Barry; Isaacs Claudine; Weber Barbara; Foulkes William; Ainsworth Peter; Tung Nadine; Eisen Andrea; Friedman Eitan; Eng Charis; Sun Ping; Narod Steven A
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.
2006: Bekaii-Saab Tanios; Williams Nita; Plass Christoph; Calero Miguel Villalona; Eng Charis
A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma.
BMC cancer 2006;6():278.
2006: Roberts J M; Eng C
Isolation to interface to integration - is it feasible to seek a holistic profession?
Methods of information in medicine 2006;45(5):471-3.
2006: Jin Ming; Diaz Philip T; Bourgeois Tran; Eng Charis; Marsh Clay B; Wu Haifeng M
Two-dimensional gel proteome reference map of blood monocytes.
Proteome science 2006;4():16.
2006: Kokko Antti; Laiho Päivi; Lehtonen Rainer; Korja Sanna; Carvajal-Carmona Luis G; Järvinen Heikki; Mecklin Jukka-Pekka; Eng Charis; Schleutker Johanna; Tomlinson Ian P M; Vahteristo Pia; Aaltonen Lauri A
EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.
BMC cancer 2006;6():145.
2006: Friedman Eitan; Kotsopoulos Joanne; Lubinski Jan; Lynch Henry T; Ghadirian Parviz; Neuhausen Susan L; Isaacs Claudine; Weber Barbara; Foulkes William D; Moller Pal; Rosen Barry; Kim-Sing Charmaine; Gershoni-Baruch Ruth; Ainsworth Peter; Daly Mary; Tung Nadine; Eisen Andrea; Olopade Olufunmilayo I; Karlan Beth; Saal Howard M; Garber Judy E; Rennert Gad; Gilchrist Dawna; Eng Charis; Offit Kenneth; Osborne Michael; Sun Ping; Narod Steven A;
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
Breast cancer research : BCR 2006;8(2):R15.
2005: Bermejo Justo Lorenzo; Eng Charis; Hemminki Kari
Cancer characteristics in Swedish families fulfilling criteria for hereditary nonpolyposis colorectal cancer.
Gastroenterology 2005;129(6):1889-99.
2005: Eng Charis
Serendipity, fate, science and leadership.
Cancer biology & therapy 2005;4(12):1422-5.
2005: Sweet Kevin; Willis Joseph; Zhou Xiao-Ping; Gallione Carol; Sawada Takeshi; Alhopuro Pia; Khoo Sok Kean; Patocs Attila; Martin Cossette; Bridgeman Scott; Heinz John; Pilarski Robert; Lehtonen Rainer; Prior Thomas W; Frebourg Thierry; Teh Bin Tean; Marchuk Douglas A; Aaltonen Lauri A; Eng Charis
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
JAMA : the journal of the American Medical Association 2005;294(19):2465-73.
2005: Weber Frank; Eng Charis
Editorial: germline variants within RET: clinical utility or scientific playtoy?
The Journal of clinical endocrinology and metabolism 2005;90(11):6334-6.
2005: Schiavi Francesca; Boedeker Carsten C; Bausch Birke; Peçzkowska Mariola; Gomez Clara Fuentes; Strassburg Thomas; Pawlu Christian; Buchta Mary; Salzmann Maren; Hoffmann Michael M; Berlis Ansgar; Brink Ingo; Cybulla Markus; Muresan Mihaela; Walter Martin A; Forrer Flavio; Välimäki Matti; Kawecki Andrzej; Szutkowski Zbigniew; Schipper Jörg; Walz Martin K; Pigny Pascal; Bauters Catherine; Willet-Brozick Joan E; Baysal Bora E; Januszewicz Andrzej; Eng Charis; Opocher Giuseppe; Neumann Hartmut P H;
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: Hemminki Kari; Eng Charis; Chen Bowang
Familial risks for nonmedullary thyroid cancer.
The Journal of clinical endocrinology and metabolism 2005;90(10):5747-53.
2005: Marsee Derek K; Vadysirisack Douangsone D; Morrison Carl D; Prasad Manju L; Eng Charis; Duh Quan-Yang; Rauen Katherine A; Kloos Richard T; Jhiang Sissy M
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: Chung Ji-Hyun; Eng Charis
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: Eng Charis
High frequency of large gene deletions and rearrangements in Lynch syndrome--back to the future?
Gastroenterology 2005;129(3):1124-6.
2005: Weber Frank; Eng Charis
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: Weber Frank; Fukino Koichi; Villalona-Calero Miguel; Eng Charis
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: Takahashi M; Yang X J; McWhinney S; Sano N; Eng C; Kagawa S; Teh B T; Kanayama H-O
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: Agrawal Shipra; Pilarski Robert; Eng Charis
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: Dourisboure R J; Belli S; Domenichini E; Podestá E J; Eng C; Solano A R
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: Waite Kristin A; Sinden Michelle R; Eng Charis
Phytoestrogen exposure elevates PTEN levels.
Human molecular genetics 2005;14(11):1457-63.
2005: Chung Ji-Hyun; Ginn-Pease Margaret E; Eng Charis
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: Weber F; Fukino K; Sawada T; Williams N; Sweet K; Brena R M; Plass C; Caldes T; Mutter G L; Villalona-Calero M A; Eng C
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: Weber Frank; Shen Lei; Aldred Micheala A; Morrison Carl D; Frilling Andrea; Saji Motoyasu; Schuppert Frank; Broelsch Christoph E; Ringel Matthew D; Eng Charis
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: Fernandez R M; Boru G; Peciña A; Jones K; López-Alonso M; Antiñolo G; Borrego S; Eng C
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.
Journal of medical genetics 2005;42(4):322-7.
2005: Butler M G; Dasouki M J; Zhou X-P; Talebizadeh Z; Brown M; Takahashi T N; Miles J H; Wang C H; Stratton R; Pilarski R; Eng C
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: Weber Frank; Aldred Micheala A; Morrison Carl D; Plass Christoph; Frilling Andrea; Broelsch Christoph E; Waite Kristin A; Eng Charis
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: Abdel-Rahman Mohamed H; Craig Elson L; Davidorf Frederick H; Eng Charis
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: McWhinney Sarah R; Pilarski Robert T; Forrester Shawnia R; Schneider Michael C; Sarquis M Marta; Dias Eduardo P; Eng Charis
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: Hemminki K; Eng C
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: Astuti D; Morris M; Krona C; Abel F; Gentle D; Martinsson T; Kogner P; Neumann H P H; Voutilainen R; Eng C; Rustin P; Latif F; Maher E R
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.
British journal of cancer 2004;91(10):1835-41.
2004: Fukino Koichi; Shen Lei; Matsumoto Satoshi; Morrison Carl D; Mutter George L; Eng Charis
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: Aldred Micheala A; Huang Ying; Liyanarachchi Sandya; Pellegata Natalia S; Gimm Oliver; Jhiang Sissy; Davuluri Ramana V; de la Chapelle Albert; Eng Charis
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: Neumann Hartmut P H; Pawlu Christian; Peczkowska Mariola; Bausch Birke; McWhinney Sarah R; Muresan Mihaela; Buchta Mary; Franke Gerlind; Klisch Joachim; Bley Thorsten A; Hoegerle Stefan; Boedeker Carsten C; Opocher Giuseppe; Schipper Jörg; Januszewicz Andrzej; Eng Charis;
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: Nagy Rebecca; Sweet Kevin; Eng Charis
Highly penetrant hereditary cancer syndromes.
Oncogene 2004;23(38):6445-70.
2004: Morrison Carl; Farrar William; Kneile Jeff; Williams Nita; Liu-Stratton Yiwen; Bakaletz Alan; Aldred Micheala A; Eng Charis
Molecular classification of parathyroid neoplasia by gene expression profiling.
The American journal of pathology 2004;165(2):565-76.
2004: Eng Charis; Iglehart Dirk
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: Aldred M A; Sanford R O C; Thomas N S; Barrow M A; Wilson L C; Brueton L A; Bonaglia M C; Hennekam R C M; Eng C; Dennis N R; Trembath R C
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: Oktenli Cagatay; Gul Davut; Deveci M Salih; Saglam Mutlu; Upadhyaya Meena; Thompson Peter; Consoli Claudia; Kocar Ismail H; Pilarski Robert; Zhou Xiao-Ping; Eng Charis
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: Pilarski R; Eng C
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: Fernandez R M; Robledo Mercedes; Antinolo Guillermo; Pecina Ana; Ruiz-Llorente Sergio; Eng Charis; Borrego Salud
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: Hampel H; Sweet K; Westman J A; Offit K; Eng C
Referral for cancer genetics consultation: a review and compilation of risk assessment criteria.
Journal of medical genetics 2004;41(2):81-91.
2004: Nassif Najah T; Lobo Glenn P; Wu Xiaojuan; Henderson Christopher J A; Morrison Carl D; Eng Charis; Jalaludin Bin; Segelov Eva
PTEN mutations are common in sporadic microsatellite stable colorectal cancer.
Oncogene 2004;23(2):617-28.
2004: Lehtonen Rainer; Kiuru Maija; Vanharanta Sakari; Sjöberg Jari; Aaltonen Leena-Maija; Aittomäki Kristiina; Arola Johanna; Butzow Ralf; Eng Charis; Husgafvel-Pursiainen Kirsti; Isola Jorma; Järvinen Heikki; Koivisto Pasi; Mecklin Jukka-Pekka; Peltomäki Päivi; Salovaara Reijo; Wasenius Veli-Matti; Karhu Auli; Launonen Virpi; Nupponen Nina N; Aaltonen Lauri A
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: Vanharanta Sakari; Buchta Mary; McWhinney Sarah R; Virta Sanna K; Peçzkowska Mariola; Morrison Carl D; Lehtonen Rainer; Januszewicz Andrzej; Järvinen Heikki; Juhola Matti; Mecklin Jukka-Pekka; Pukkala Eero; Herva Riitta; Kiuru Maija; Nupponen Nina N; Aaltonen Lauri A; Neumann Hartmut P H; Eng Charis
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: Astuti Dewi; Hart-Holden Niki; Latif Farida; Lalloo Fiona; Black Graeme C; Lim Caron; Moran Anthony; Grossman Ashley B; Hodgson Shirley V; Freemont Anthony; Ramsden Richard; Eng Charis; Evans D Gareth R; Maher Eamonn R
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Clinical endocrinology 2003;59(6):728-33.
2003: Zhou Xiao-Ping; Marsh Deborah J; Morrison Carl D; Chaudhury Abhik R; Maxwell Marius; Reifenberger Guido; Eng Charis
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: Eng Charis
Constipation, polyps, or cancer? Let PTEN predict your future.
American journal of medical genetics. Part A 2003;122A(4):315-22.
2003: Fernández Raquel M; Antiñolo Guillermo; Eng Charis; Borrego Salud
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: Merks J H M; de Vries L S; Zhou X-P; Nikkels P; Barth P G; Eng C; Hennekam R C M
PTEN hamartoma tumour syndrome: variability of an entity.
Journal of medical genetics 2003;40(10):e111.
2003: McWhinney Sarah R; Boru Getachew; Binkley Philip K; Peczkowska Mariola; Januszewicz Andrzej A; Neumann Hartmut P H; Eng Charis
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: Waite Kristin A; Eng Charis
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Nature reviews. Genetics 2003;4(10):763-73.
2003: Drovdlic C M; Goddard K A B; Chak A; Brock W; Chessler L; King J F; Richter J; Falk G W; Johnston D K; Fisher J L; Grady W M; Lemeshow S; Eng C
Demographic and phenotypic features of 70 families segregating Barrett's oesophagus and oesophageal adenocarcinoma.
Journal of medical genetics 2003;40(9):651-6.
2003: Eng Charis
PTEN: one gene, many syndromes.
Human mutation 2003;22(3):183-98.
2003: Delatycki M B; Danks A; Churchyard A; Zhou X-P; Eng C
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: Zhou Xiao-Ping; Waite Kristin A; Pilarski Robert; Hampel Heather; Fernandez Magali J; Bos Cindy; Dasouki Majed; Feldman Gerald L; Greenberg Lois A; Ivanovich Jennifer; Matloff Ellen; Patterson Annette; Pierpont Mary Ella; Russo Donna; Nassif Najah T; Eng Charis
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: Dallol Ashraf; Krex Dietmar; Hesson Luke; Eng Charis; Maher Eamonn R; Latif Farida
Frequent epigenetic inactivation of the SLIT2 gene in gliomas.
Oncogene 2003;22(29):4611-6.
2003: McGarrity Thomas J; Wagner Baker Maria J; Ruggiero Francesca M; Thiboutot Diane M; Hampel Heather; Zhou Xiao-Ping; Eng Charis
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: Aldred Micheala A; Ginn-Pease Margaret E; Morrison Carl D; Popkie Anthony P; Gimm Oliver; Hoang-Vu Cuong; Krause Ulf; Dralle Henning; Jhiang Sissy M; Plass Christoph; Eng Charis
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: Gupta Rajnish A; Sarraf Pasha; Mueller Elisabetta; Brockman Jeffrey A; Prusakiewicz Jeffery J; Eng Charis; Willson Timothy M; DuBois Raymond N
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: Aldred Micheala A; Morrison Carl; Gimm Oliver; Hoang-Vu Cuong; Krause Ulf; Dralle Henning; Jhiang Sissy; Eng Charis
Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas.
Oncogene 2003;22(22):3412-6.
2003: Jaeger E E M; Woodford-Richens K L; Lockett M; Rowan A J; Sawyer E J; Heinimann K; Rozen P; Murday V A; Whitelaw S C; Ginsberg A; Atkin W S; Lynch H T; Southey M C; Debinski H; Eng C; Bodmer W F; Talbot I C; Hodgson S V; Thomas H J W; Tomlinson I P M
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: Borrego S; Fernández R M; Dziema H; Niess A; López-Alonso M; Antiñolo G; Eng C
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: Waite Kristin A; Eng Charis
BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels.
Human molecular genetics 2003;12(6):679-84.
2003: Eng Charis; Kiuru Maija; Fernandez Magali J; Aaltonen Lauri A
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Nature reviews. Cancer 2003;3(3):193-202.
2003: Ginn-Pease Margaret E; Eng Charis
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: Borrego Salud; Wright Fred A; Fernández Raquel M; Williams Nita; López-Alonso Manuel; Davuluri Ramana; Antiñolo Guillermo; Eng Charis
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: Borrego Salud; Fernández Raquel M; Dziema Heather; Japón Miguel A; Marcos Irene; Eng Charis; Antiñolo Guillermo
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: Kurose Keisuke; Gilley Kristie; Matsumoto Satoshi; Watson Peter H; Zhou Xiao-Ping; Eng Charis
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.
Nature genetics 2002;32(3):355-7.
2002: Girnun Geoffrey D; Smith Wendy M; Drori Stavit; Sarraf Pasha; Mueller Elisabetta; Eng Charis; Nambiar Prashant; Rosenberg Daniel W; Bronson Roderick T; Edelmann Winfried; Kucherlapati Raju; Gonzalez Frank J; Spiegelman Bruce M
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: Maher Eamonn R; Eng Charis
The pressure rises: update on the genetics of phaeochromocytoma.
Human molecular genetics 2002;11(20):2347-54.
2002: Frisk Tony; Foukakis Theodoris; Dwight Trisha; Lundberg Jonas; Höög Anders; Wallin Göran; Eng Charis; Zedenius Jan; Larsson Catharina
Silencing of the PTEN tumor-suppressor gene in anaplastic thyroid cancer.
Genes, chromosomes & cancer 2002;35(1):74-80.
2002: Zhou Xiao-Ping; Loukola Anu; Salovaara Reijo; Nystrom-Lahti Minna; Peltomäki Päivi; de la Chapelle Albert; Aaltonen Lauri A; Eng Charis
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: Weng Liang-Ping; Brown Jessica L; Baker Kim M; Ostrowski Michael C; Eng Charis
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: Eng Charis
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: Fernandez Magali; Eng Charis
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: Neumann Hartmut P H; Bausch Birke; McWhinney Sarah R; Bender Bernhard U; Gimm Oliver; Franke Gerlind; Schipper Joerg; Klisch Joachim; Altehoefer Carsten; Zerres Klaus; Januszewicz Andrzej; Eng Charis; Smith Wendy M; Munk Robin; Manz Tanja; Glaesker Sven; Apel Thomas W; Treier Markus; Reineke Martin; Walz Martin K; Hoang-Vu Cuong; Brauckhoff Michael; Klein-Franke Andreas; Klose Peter; Schmidt Heinrich; Maier-Woelfle Margarete; Peçzkowska Mariola; Szmigielski Cesary; Eng Charis;
Germ-line mutations in nonsyndromic pheochromocytoma.
The New England journal of medicine 2002;346(19):1459-66.
2002: Neumann Hartmut P H; Bausch Birke; McWhinney Sarah R; Bender Bernhard U; Gimm Oliver; Franke Gerlind; Schipper Joerg; Klisch Joachim; Altehoefer Carsten; Zerres Klaus; Januszewicz Andrzej; Eng Charis; Smith Wendy M; Munk Robin; Manz Tanja; Glaesker Sven; Apel Thomas W; Treier Markus; Reineke Martin; Walz Martin K; Hoang-Vu Cuong; Brauckhoff Michael; Klein-Franke Andreas; Klose Peter; Schmidt Heinrich; Maier-Woelfle Margarete; Peçzkowska Mariola; Szmigielski Cesary; Eng Charis;
Germ-line mutations in nonsyndromic pheochromocytoma.
The New England journal of medicine 2002;346(19):1459-66.
2002: Zhou Xiao-Ping; Hampel Heather; Roggenbuck Jennifer; Saba Nabil; Prior Thomas W; Eng Charis
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: Humar Bostjan; Toro Tumi; Graziano Francesco; Müller Hansjakob; Dobbie Zuzana; Kwang-Yang Han; Eng Charis; Hampel Heather; Gilbert Dale; Winship Ingrid; Parry Susan; Ward Robyn; Findlay Mike; Christian Alice; Tucker Monica; Tucker Kathy; Merriman Tony; Guilford Parry
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.
Human mutation 2002;19(5):518-25.
2002: Whiteman David C; Zhou Xiao-Ping; Cummings Margaret C; Pavey Sandra; Hayward Nicholas K; Eng Charis
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: Caldes Trinidad; Godino Javier; de la Hoya Miguel; Garcia Carbonero Iciar; Perez Segura Pedro; Eng Charis; Benito Manuel; Diaz-Rubio Eduardo
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: Waite Kristin A; Eng Charis
Protean PTEN: form and function.
American journal of human genetics 2002;70(4):829-44.
2002: Zhou Xiao-Ping; Kuismanen Shannon; Nystrom-Lahti Minna; Peltomaki Païvi; Eng Charis
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: Eng C; Thiele H; Zhou X P; Gorlin R J; Hennekam R C; Winter R M
PTEN mutations and proteus syndrome.
Lancet 2001;358(9298):2079-80.
2001: Huang Y; Prasad M; Lemon W J; Hampel H; Wright F A; Kornacker K; LiVolsi V; Frankel W; Kloos R T; Eng C; Pellegata N S; de la Chapelle A
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: Eng C; Brody L C; Wagner T M; Devilee P; Vijg J; Szabo C; Tavtigian S V; Nathanson K L; Ostrander E; Frank T S;
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: Astuti D; Agathanggelou A; Honorio S; Dallol A; Martinsson T; Kogner P; Cummins C; Neumann H P; Voutilainen R; Dahia P; Eng C; Maher E R; Latif F
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours.
Oncogene 2001;20(51):7573-7.
2001: Zhou X P; Woodford-Richens K; Lehtonen R; Kurose K; Aldred M; Hampel H; Launonen V; Virta S; Pilarski R; Salovaara R; Bodmer W F; Conrad B A; Dunlop M; Hodgson S V; Iwama T; Järvinen H; Kellokumpu I; Kim J C; Leggett B; Markie D; Mecklin J P; Neale K; Phillips R; Piris J; Rozen P; Houlston R S; Aaltonen L A; Tomlinson I P; Eng C
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: Ruiz A; Antiñolo G; Fernández R M; Eng C; Marcos I; Borrego S
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: Kurose K; Hoshaw-Woodard S; Adeyinka A; Lemeshow S; Watson P H; Eng C
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: Smith W M; Zhou X P; Kurose K; Gao X; Latif F; Kroll T; Sugano K; Cannistra S A; Clinton S K; Maher E R; Prior T W; Eng C
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: Bender B U; Eng C; Olschewski M; Berger D P; Laubenberger J; Altehöfer C; Kirste G; Orszagh M; van Velthoven V; Miosczka H; Schmidt D; Neumann H P
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: Zhou X; Hampel H; Thiele H; Gorlin R J; Hennekam R C; Parisi M; Winter R M; Eng C
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
Lancet 2001;358(9277):210-1.
2001: Astuti D; Latif F; Dallol A; Dahia P L; Douglas F; George E; Sköldberg F; Husebye E S; Eng C; Maher E R
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: Smiraglia D J; Rush L J; Frühwald M C; Dai Z; Held W A; Costello J F; Lang J C; Eng C; Li B; Wright F A; Caligiuri M A; Plass C
Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies.
Human molecular genetics 2001;10(13):1413-9.
2001: Kurose K; Zhou X P; Araki T; Cannistra S A; Maher E R; Eng C
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: Mutter G L; Ince T A; Baak J P; Kust G A; Zhou X P; Eng C
Molecular identification of latent precancers in histologically normal endometrium.
Cancer research 2001;61(11):4311-4.
2001: Vanhorne J B; Gimm O; Myers S M; Kaushik A; von Deimling A; Eng C; Mulligan L M
Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
Human genetics 2001;108(5):409-15.
2001: Gimm O; Dziema H; Brown J; Hoang-Vu C; Hinze R; Dralle H; Mulligan L M; Eng C
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: Astuti D; Douglas F; Lennard T W; Aligianis I A; Woodward E R; Evans D G; Eng C; Latif F; Maher E R
Germline SDHD mutation in familial phaeochromocytoma.
Lancet 2001;357(9263):1181-2.
2001: Kulke M H; Thakore K S; Thomas G; Wang H; Loda M; Eng C; Odze R D
Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus-associated adenocarcinoma.
Cancer 2001;91(8):1451-7.
2001: Gimm O; Chi H; Dahia P L; Perren A; Hinze R; Komminoth P; Dralle H; Reynolds P R; Eng C
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: Gimm O; Dziema H; Brown J; de la Puente A; Hoang-Vu C; Dralle H; Plass C; Eng C
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: Kulke M H; Odze R D; Thakore K S; Thomas G; Wang H; Loda M; Eng C
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: Fackenthal J D; Marsh D J; Richardson A L; Cummings S A; Eng C; Robinson B G; Olopade O I
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
Journal of medical genetics 2001;38(3):159-64.
2001: Weng L P; Smith W M; Brown J L; Eng C
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: Weng L P; Brown J L; Eng C
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: Weng L P; Gimm O; Kum J B; Smith W M; Zhou X P; Wynford-Thomas D; Leone G; Eng C
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: Weng L; Brown J; Eng C
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: Parisi M A; Dinulos M B; Leppig K A; Sybert V P; Eng C; Hudgins L
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: Dahia P L; Eng C
Hereditary endocrine neoplasias: fundamental insights and the practice of clinical cancer genetics.
Frontiers of hormone research 2001;28():8-19.
2001: Dahia P L; Eng C
Genetic disorders of endocrine neoplasia. Introduction..
Frontiers of hormone research 2001;28():1-7.
2001: Eng C; Hampel H; de la Chapelle A
Genetic testing for cancer predisposition.
Annual review of medicine 2001;52():371-400.
2000: Gimm O; Armanios M; Dziema H; Neumann H P; Eng C
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.
Cancer research 2000;60(24):6822-5.
2000: Bender B U; Gutsche M; Gläsker S; Müller B; Kirste G; Eng C; Neumann H P
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: Eng C
Multiple endocrine neoplasia type 2 and the practice of molecular medicine.
Reviews in endocrine & metabolic disorders 2000;1(4):283-90.
2000: Eng C
Will the real Cowden syndrome please stand up: revised diagnostic criteria.
Journal of medical genetics 2000;37(11):828-30.
2000: Zhou X P; Gimm O; Hampel H; Niemann T; Walker M J; Eng C
Epigenetic PTEN silencing in malignant melanomas without PTEN mutation.
The American journal of pathology 2000;157(4):1123-8.
2000: Kurose K; Zhou X P; Araki T; Eng C
Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas.
Genes, chromosomes & cancer 2000;29(2):166-72.
2000: Dahia P M; Gimm O; Chi H; Marsh D J; Reynolds P R; Eng C
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: Mueller E; Smith M; Sarraf P; Kroll T; Aiyer A; Kaufman D S; Oh W; Demetri G; Figg W D; Zhou X P; Eng C; Spiegelman B M; Kantoff P W
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: Syngal S; Fox E A; Eng C; Kolodner R D; Garber J E
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: Grady W M; Willis J; Guilford P J; Dunbier A K; Toro T T; Lynch H; Wiesner G; Ferguson K; Eng C; Park J G; Kim S J; Markowitz S
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer.
Nature genetics 2000;26(1):16-7.
2000: Borrego S; Ruiz A; Saez M E; Gimm O; Gao X; López-Alonso M; Hernández A; Wright F A; Antiñolo G; Eng C
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
Journal of medical genetics 2000;37(8):572-8.
2000: Gimm O; Attié-Bitach T; Lees J A; Vekemans M; Eng C
Expression of the PTEN tumour suppressor protein during human development.
Human molecular genetics 2000;9(11):1633-9.
2000: Mutter G L; Lin M C; Fitzgerald J T; Kum J B; Eng C
Changes in endometrial PTEN expression throughout the human menstrual cycle.
The Journal of clinical endocrinology and metabolism 2000;85(6):2334-8.
2000: Zhou X P; Smith W M; Gimm O; Mueller E; Gao X; Sarraf P; Prior T W; Plass C; von Deimling A; Black P M; Yates A J; Eng C
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: Mutter G L; Lin M C; Fitzgerald J T; Kum J B; Baak J P; Lees J A; Weng L P; Eng C
Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers.
Journal of the National Cancer Institute 2000;92(11):924-30.
2000: Gimm O; Perren A; Weng L P; Marsh D J; Yeh J J; Ziebold U; Gil E; Hinze R; Delbridge L; Lees J A; Mutter G L; Robinson B G; Komminoth P; Dralle H; Eng C
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: Woodford-Richens K; Bevan S; Churchman M; Dowling B; Jones D; Norbury C G; Hodgson S V; Desai D; Neale K; Phillips R K; Young J; Leggett B; Dunlop M; Rozen P; Eng C; Markie D; Rodriguez-Bigas M A; Sheridan E; Iwama T; Eccles D; Smith G T; Kim J C; Kim K M; Sampson J R; Evans G; Tejpar S; Bodmer W F; Tomlinson I P; Houlston R S
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
Gut 2000;46(5):656-60.
2000: Yeh J J; Lunetta K L; van Orsouw N J; Moore F D; Mutter G L; Vijg J; Dahia P L; Eng C
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: Iliopoulos O; Eng C
Genetic and clinical aspects of familial renal neoplasms.
Seminars in oncology 2000;27(2):138-49.
2000: Zhou X P; Marsh D J; Hampel H; Mulliken J B; Gimm O; Eng C
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: Faisal Ahmed S; Marsh D J; Weremowicz S; Morton C C; Williams D M; Eng C
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: Yeh J J; Marsh D J; Zedenius J; Dwight T; Delbridge L; Robinson B G; Eng C
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: Weng L P; Smith W M; Dahia P L; Ziebold U; Gil E; Lees J A; Eng C
PTEN suppresses breast cancer cell growth by phosphatase activity-dependent G1 arrest followed by cell death.
Cancer research 1999;59(22):5808-14.
1999: Borrego S; Sáez M E; Ruiz A; Gimm O; López-Alonso M; Antiñolo G; Eng C
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: van Orsouw N J; Dhanda R K; Elhaji Y; Narod S A; Li F P; Eng C; Vijg J
A highly accurate, low cost test for BRCA1 mutations.
Journal of medical genetics 1999;36(10):747-53.
1999: Perren A; Weng L P; Boag A H; Ziebold U; Thakore K; Dahia P L; Komminoth P; Lees J A; Mulligan L M; Mutter G L; Eng C
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: Duerr E M; Gimm O; Neuberg D S; Kum J B; Clifford S C; Toledo S P; Maher E R; Dahia P L; Eng C
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: Bevan S; Woodford-Richens K; Rozen P; Eng C; Young J; Dunlop M; Neale K; Phillips R; Markie D; Rodriguez-Bigas M; Leggett B; Sheridan E; Hodgson S; Iwama T; Eccles D; Bodmer W; Houlston R; Tomlinson I
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.
Gut 1999;45(3):406-8.
1999: Clifford S C; Walsh S; Hewson K; Green E K; Brinke A; Green P M; Gianelli F; Eng C; Maher E R
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: Gimm O; Greco A; Hoang-Vu C; Dralle H; Pierotti M A; Eng C
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: Marsh D J; Kum J B; Lunetta K L; Bennett M J; Gorlin R J; Ahmed S F; Bodurtha J; Crowe C; Curtis M A; Dasouki M; Dunn T; Feit H; Geraghty M T; Graham J M; Hodgson S V; Hunter A; Korf B R; Manchester D; Miesfeldt S; Murday V A; Nathanson K L; Parisi M; Pober B; Romano C; Eng C
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: Syngal S; Fox E A; Li C; Dovidio M; Eng C; Kolodner R D; Garber J E
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: Smith V V; Eng C; Milla P J
Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment.
Gut 1999;45(1):143-6.
1999: Sarraf P; Mueller E; Smith W M; Wright H M; Kum J B; Aaltonen L A; de la Chapelle A; Spiegelman B M; Eng C
Loss-of-function mutations in PPAR gamma associated with human colon cancer.
Molecular cell 1999;3(6):799-804.
1999: Laugé A; Lefebvre C; Laurent-Puig P; Caux V; Gad S; Eng C; Longy M; Stoppa-Lyonnet D
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: Gimm O; Gössling A; Marsh D J; Dahia P L; Mulligan L M; von Deimling A; Eng C
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: Svensson P J; Tapper-Persson M; Anvret M; Molander M L; Eng C; Nordenskjöld A
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.
Clinical genetics 1999;55(3):215-7.
1999: Myers S M; Salomon R; Goessling A; Pelet A; Eng C; von Deimling A; Lyonnet S; Mulligan L M
Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.
Journal of medical genetics 1999;36(3):217-20.
1999: Feilotter H E; Coulon V; McVeigh J L; Boag A H; Dorion-Bonnet F; Duboué B; Latham W C; Eng C; Mulligan L M; Longy M
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: Gimm O; Neuberg D S; Marsh D J; Dahia P L; Hoang-Vu C; Raue F; Hinze R; Dralle H; Eng C
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: Dahia P L; Aguiar R C; Alberta J; Kum J B; Caron S; Sill H; Marsh D J; Ritz J; Freedman A; Stiles C; Eng C
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: Eng C
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.
1999: Eng C
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.
1998: Zori R T; Marsh D J; Graham G E; Marliss E B; Eng C
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: Eng C; Thomas G A; Neuberg D S; Mulligan L M; Healey C S; Houghton C; Frilling A; Raue F; Williams E D; Ponder B A
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: Eng C; Marsh D J; Robinson B G; Chow C W; Patton M A; Southey M C; Venter D J; Ponder B A; Milla P J; Smith V V
Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosis.
The Journal of clinical endocrinology and metabolism 1998;83(12):4191-4.
1998: Dabora S L; Sigalas I; Hall F; Eng C; Vijg J; Kwiatkowski D J
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Annals of human genetics 1998;62(Pt 6):491-504.
1998: Longy M; Coulon V; Duboué B; David A; Larrègue M; Eng C; Amati P; Kraimps J L; Bottani A; Lacombe D; Bonneau D
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Journal of medical genetics 1998;35(11):886-9.
1998: Marsh D J; Dahia P L; Caron S; Kum J B; Frayling I M; Tomlinson I P; Hughes K S; Eeles R A; Hodgson S V; Murday V A; Houlston R; Eng C
Germline PTEN mutations in Cowden syndrome-like families.
Journal of medical genetics 1998;35(11):881-5.
1998: Houlston R; Bevan S; Williams A; Young J; Dunlop M; Rozen P; Eng C; Markie D; Woodford-Richens K; Rodriguez-Bigas M A; Leggett B; Neale K; Phillips R; Sheridan E; Hodgson S; Iwama T; Eccles D; Bodmer W; Tomlinson I
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: Somerville R P; Shoshan Y; Eng C; Barnett G; Miller D; Cowell J K
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: Dhanda R K; van Orsouw N J; Sigalas I; Eng C; Vijg J
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: Borrego S; Eng C; Sánchez B; Sáez M E; Navarro E; Antiñolo G
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: FitzGerald M G; Marsh D J; Wahrer D; Bell D; Caron S; Shannon K E; Ishioka C; Isselbacher K J; Garber J E; Eng C; Haber D A
Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer.
Oncogene 1998;17(6):727-31.
1998: Stratakis C A; Kirschner L S; Taymans S E; Tomlinson I P; Marsh D J; Torpy D J; Giatzakis C; Eccles D M; Theaker J; Houlston R S; Blouin J L; Antonarakis S E; Basson C T; Eng C; Carney J A
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: Svensson P J; Molander M L; Eng C; Anvret M; Nordenskjöld A
Low frequency of RET mutations in Hirschsprung disease in Sweden.
Clinical genetics 1998;54(1):39-44.
1998: Eng C; Peacocke M
PTEN and inherited hamartoma-cancer syndromes.
Nature genetics 1998;19(3):223.
1998: Rines R D; van Orsouw N J; Sigalas I; Li F P; Eng C; Vijg J
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
Carcinogenesis 1998;19(6):979-84.
1998: Dahia P L; FitzGerald M G; Zhang X; Marsh D J; Zheng Z; Pietsch T; von Deimling A; Haluska F G; Haber D A; Eng C
A highly conserved processed PTEN pseudogene is located on chromosome band 9p21.
Oncogene 1998;16(18):2403-6.
1998: van Orsouw N J; Dhanda R K; Rines R D; Smith W M; Sigalas I; Eng C; Vijg J
Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests.
Nucleic acids research 1998;26(10):2398-406.
1998: Eng C; Ji H
Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.
American journal of human genetics 1998;62(5):1020-2.
1998: Feilotter H E; Nagai M A; Boag A H; Eng C; Mulligan L M
Analysis of PTEN and the 10q23 region in primary prostate carcinomas.
Oncogene 1998;16(13):1743-8.
1998: Mulligan L M; Timmer T; Ivanchuk S M; Campling B G; Young L C; Rabbitts P H; Sundaresan V; Hofstra R M; Eng C
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: Eng C
Genetics of Cowden syndrome: through the looking glass of oncology.
International journal of oncology 1998;12(3):701-10.
1998: Marsh D J; Coulon V; Lunetta K L; Rocca-Serra P; Dahia P L; Zheng Z; Liaw D; Caron S; Duboué B; Lin A Y; Richardson A L; Bonnetblanc J M; Bressieux J M; Cabarrot-Moreau A; Chompret A; Demange L; Eeles R A; Yahanda A M; Fearon E R; Fricker J P; Gorlin R J; Hodgson S V; Huson S; Lacombe D; Eng C
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: Eng C; Myers S M; Kogon M D; Sanicola M; Hession C; Cate R L; Mulligan L M
Genomic structure and chromosomal localization of the human GDNFR-alpha gene.
Oncogene 1998;16(5):597-601.
1998: Marsh D J; Dahia P L; Coulon V; Zheng Z; Dorion-Bonnet F; Call K M; Little R; Lin A Y; Eeles R A; Goldstein A M; Hodgson S V; Richardson A L; Robinson B G; Weber H C; Longy M; Eng C
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: Gordon C m; Majzoub J A; Marsh D J; Mulliken J B; Ponder B A; Robinson B G; Eng C
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.
1998: Dhanda R K; Smith W M; Scott C B; Eng C; Vijg J
A simple system for automated two-dimensional electrophoresis: applications to genetic testing.
Genetic testing 1998;2(1):67-70.
1998: Smith W M; Van Orsouw N J; Fox E A; Kolodner R D; Vijg J; Eng C
Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis.
Genetic testing 1998;2(1):43-53.
1998: Marsh D J; Andrew S D; Learoyd D L; Pojer R; Eng C; Robinson B G
Deletion-insertion mutation encompassing RET codon 634 is associated with medullary thyroid carcinoma.
Human mutation 1998;Suppl 1():S3-4.
1997: Marsh D J; Roth S; Lunetta K L; Hemminki A; Dahia P L; Sistonen P; Zheng Z; Caron S; van Orsouw N J; Bodmer W F; Cottrell S E; Dunlop M G; Eccles D; Hodgson S V; Järvinen H; Kellokumpu I; Markie D; Neale K; Phillips R; Rozen P; Syngal S; Vijg J; Tomlinson I P; Aaltonen L A; Eng C
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Cancer research 1997;57(22):5017-21.
1997: Gimm O; Marsh D J; Andrew S D; Frilling A; Dahia P L; Mulligan L M; Zajac J D; Robinson B G; Eng C
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: Dahia P L; Marsh D J; Zheng Z; Zedenius J; Komminoth P; Frisk T; Wallin G; Parsons R; Longy M; Larsson C; Eng C
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.
Cancer research 1997;57(21):4710-3.
1997: Tsou H C; Teng D H; Ping X L; Brancolini V; Davis T; Hu R; Xie X X; Gruener A C; Schrager C A; Christiano A M; Eng C; Steck P; Ott J; Tavtigian S V; Peacocke M
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: Marsh D J; Zheng Z; Arnold A; Andrew S D; Learoyd D; Frilling A; Komminoth P; Neumann H P; Ponder B A; Rollins B J; Shapiro G I; Robinson B G; Mulligan L M; Eng C
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: Myers M P; Stolarov J P; Eng C; Li J; Wang S I; Wigler M H; Parsons R; Tonks N K
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: Marsh D J; Dahia P L; Zheng Z; Liaw D; Parsons R; Gorlin R J; Eng C
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Nature genetics 1997;16(4):333-4.
1997: Eng C
From bench to bedside... but when?
Genome research 1997;7(7):669-72.
1997: Woodward E R; Eng C; McMahon R; Voutilainen R; Affara N A; Ponder B A; Maher E R
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Human molecular genetics 1997;6(7):1051-6.
1997: Eng C; Schneider K; Fraumeni J F; Li F P
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: Liaw D; Marsh D J; Li J; Dahia P L; Wang S I; Zheng Z; Bose S; Call K M; Tsou H C; Peacocke M; Eng C; Parsons R
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
Nature genetics 1997;16(1):64-7.
1997: Eng C; Vijg J
Genetic testing: the problems and the promise.
Nature biotechnology 1997;15(5):422-6.
1997: Ivanchuk S M; Eng C; Cavenee W K; Mulligan L M
The expression of RET and its multiple splice forms in developing human kidney.
Oncogene 1997;14(15):1811-8.
1997: Boccia L M; Green J S; Joyce C; Eng C; Taylor S A; Mulligan L M
Mutation of RET codon 768 is associated with the FMTC phenotype.
Clinical genetics 1997;51(2):81-5.
1997: Marsh D J; Zheng Z; Zedenius J; Kremer H; Padberg G W; Larsson C; Longy M; Eng C
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: Dahia P L; Toledo S P; Mulligan L M; Maher E R; Grossman A B; Eng C
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: Schuffenecker I; Ginet N; Goldgar D; Eng C; Chambe B; Boneu A; Houdent C; Pallo D; Schlumberger M; Thivolet C; Lenoir G M
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.
1997: Neumann H P; Bender B U; Januszewicz A; Janetschek G; Eng C
Inherited pheochromocytoma.
Advances in nephrology from the Necker Hospital 1997;27():361-76.
1997: Marsh D J; Mulligan L M; Eng C
RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma.
Hormone research 1997;47(4-6):168-78.
1997: Eng C; Mulligan L M
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.
1996: Ivanchuk S M; Myers S M; Eng C; Mulligan L M
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: Eng C; Clayton D; Schuffenecker I; Lenoir G; Cote G; Gagel R F; van Amstel H K; Lips C J; Nishisho I; Takai S I; Marsh D J; Robinson B G; Frank-Raue K; Raue F; Xue F; Noll W W; Romei C; Pacini F; Fink M; Niederle B; Zedenius J; Nordenskjöld M; Komminoth P; Hendy G N; Mulligan L M
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: Salomon R; Attié T; Pelet A; Bidaud C; Eng C; Amiel J; Sarnacki S; Goulet O; Ricour C; Nihoul-Fékété C; Munnich A; Lyonnet S
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nature genetics 1996;14(3):345-7.
1996: Neumann H P; Bender B; Zäuner I; Berger D P; Eng C; Brauch H; Zbar B
Monogenetic hypertension and pheochromocytoma.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1996;28(3):329-33.
1996: Eng C
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: Eng C; Foster K A; Healey C S; Houghton C; Gayther S A; Mulligan L M; Ponder B A
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: Van Orsouw N J; Li D; van der Vlies P; Scheffer H; Eng C; Buys C H; Li F P; Vijg J
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: Nelen M R; Padberg G W; Peeters E A; Lin A Y; van den Helm B; Frants R R; Coulon V; Goldstein A M; van Reen M M; Easton D F; Eeles R A; Hodgsen S; Mulvihill J J; Murday V A; Tucker M A; Mariman E C; Starink T M; Ponder B A; Ropers H H; Kremer H; Longy M; Eng C
Localization of the gene for Cowden disease to chromosome 10q22-23.
Nature genetics 1996;13(1):114-6.
1996: Eng C; Mulligan L M; Healey C S; Houghton C; Frilling A; Raue F; Thomas G A; Ponder B A
Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma.
Cancer research 1996;56(9):2167-70.
1996: Edery P; Attié T; Amiel J; Pelet A; Eng C; Hofstra R M; Martelli H; Bidaud C; Munnich A; Lyonnet S
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):442-4.
1996: Marsh D J; Learoyd D L; Andrew S D; Krishnan L; Pojer R; Richardson A L; Delbridge L; Eng C; Robinson B G
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma.
Clinical endocrinology 1996;44(3):249-57.
1996: Marsh D J; Andrew S D; Eng C; Learoyd D L; Capes A G; Pojer R; Richardson A L; Houghton C; Mulligan L M; Ponder B A; Robinson B G
Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma.
Cancer research 1996;56(6):1241-3.
1995: Eng C; Crossey P A; Mulligan L M; Healey C S; Houghton C; Prowse A; Chew S L; Dahia P L; O'Riordan J L; Toledo S P
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: Reynolds L F; Eng C
RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.
Current opinion in pediatrics 1995;7(6):702-9.
1995: Crossey P A; Eng C; Ginalska-Malinowska M; Lennard T W; Wheeler D C; Ponder B A; Maher E R
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
Journal of medical genetics 1995;32(11):885-6.
1995: Myers S M; Eng C; Ponder B A; Mulligan L M
Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET.
Oncogene 1995;11(10):2039-45.
1995: Neumann H P; Eng C; Mulligan L M; Glavac D; Zäuner I; Ponder B A; Crossey P A; Maher E R; Brauch H
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: Attié T; Pelet A; Edery P; Eng C; Mulligan L M; Amiel J; Boutrand L; Beldjord C; Nihoul-Fékété C; Munnich A
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics 1995;4(8):1381-6.
1995: Eng C; Mulligan L M; Smith D P; Healey C S; Frilling A; Raue F; Neumann H P; Ponder M A; Ponder B A
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: Lorenzo M J; Eng C; Mulligan L M; Stonehouse T J; Healey C S; Ponder B A; Smith D P
Multiple mRNA isoforms of the human RET proto-oncogene generated by alternate splicing.
Oncogene 1995;10(7):1377-83.
1995: Eng C; Mulligan L M; Smith D P; Healey C S; Frilling A; Raue F; Neumann H P; Pfragner R; Behmel A; Lorenzo M J
Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma.
Genes, chromosomes & cancer 1995;12(3):209-12.
1995: Eng C; Smith D P; Mulligan L M; Healey C S; Zvelebil M J; Stonehouse T J; Ponder M A; Jackson C E; Waterfield M D; Ponder B A
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.
1995: Songyang Z; Carraway K L; Eck M J; Harrison S C; Feldman R A; Mohammadi M; Schlessinger J; Hubbard S R; Smith D P; Eng C
Catalytic specificity of protein-tyrosine kinases is critical for selective signalling.
Nature 1995;373(6514):536-9.
1994: Pelet A; Attie T; Goulet O; Eng C; Ponder B A; Munnich A; Lyonnet S
De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.
Lancet 1994;344(8939-8940):1769-70.
1994: Mulligan L M; Eng C; Attié T; Lyonnet S; Marsh D J; Hyland V J; Robinson B G; Frilling A; Verellen-Dumoulin C; Safar A
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
Human molecular genetics 1994;3(12):2163-7.
1994: Edery P; Attié T; Mulligan L M; Pelet A; Eng C; Ponder B A; Munnich A; Lyonnet S
A novel polymorphism in the coding sequence of the human RET proto-oncogene.
Human genetics 1994;94(5):579-80.
1994: Gardner E; Mulligan L M; Eng C; Healey C S; Kwok J B; Ponder M A; Ponder B A
Haplotype analysis of MEN 2 mutations.
Human molecular genetics 1994;3(10):1771-4.
1994: Attie T; Pelet A; Sarda P; Eng C; Edery P; Mulligan L M; Ponder B A; Munnich A; Lyonnet S
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.
Human molecular genetics 1994;3(8):1439-40.
1994: Eng C; Murday V; Seal S; Mohammed S; Hodgson S V; Chaudary M A; Fentiman I S; Ponder B A; Eeles R A
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: Mulligan L M; Eng C; Healey C S; Ponder M A; Feldman G L; Li P; Jackson C E; Ponder B A
A de novo mutation of the RET proto-oncogene in a patient with MEN 2A.
Human molecular genetics 1994;3(6):1007-8.
1994: Eng C; Stratton M; Ponder B; Murday V; Easton D; Sacks N; Watson M; Eeles R
Familial cancer syndromes.
Lancet 1994;343(8899):709-13.
1994: Eng C; Smith D P; Mulligan L M; Nagai M A; Healey C S; Ponder M A; Gardner E; Scheumann G F; Jackson C E; Tunnacliffe A
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: Mulligan L M; Eng C; Healey C S; Clayton D; Kwok J B; Gardner E; Ponder M A; Frilling A; Jackson C E; Lehnert H
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: Smith D P; Eng C; Ponder B A
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: Eng C; Spechler S J; Ruben R; Li F P
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: Eng C; Li F P; Abramson D H; Ellsworth R M; Wong F L; Goldman M B; Seddon J; Tarbell N; Boice J D
Mortality from second tumors among long-term survivors of retinoblastoma.
Journal of the National Cancer Institute 1993;85(14):1121-8.
1993: Eng C; Cunningham D; Quade B J; Schwamm L; Kantoff P W; Skarin A T
Meningeal carcinomatosis from transitional cell carcinoma of the bladder.
Cancer 1993;72(2):553-7.
1993: Eng C; Ponder B A
The role of gene mutations in the genesis of familial cancers.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1993;7(10):910-9.
1993: Mulligan L M; Kwok J B; Healey C S; Elsdon M J; Eng C; Gardner E; Love D R; Mole S E; Moore J K; Papi L
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
Nature 1993;363(6428):458-60.
1992: Eng C; Farraye F A; Shulman L N; Peppercorn M A; Krauss C M; Connors J M; Stone R M
The association between the myelodysplastic syndromes and Crohn disease.
Annals of internal medicine 1992;117(8):661-2.
1992: Eng C
Thoracic adenopathy: metastatic seminoma or sarcoid?
Hospital practice (Office ed.) 1992;27(6):208-10.
1990: Eng C; Skolnick A E; Come S E
Elevated creatine kinase and malignancy.
Hospital practice (Office ed.) 1990;25(12):123, 126, 129-30.

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