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Robert Hofstra

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Rocco Mazzolini; Mark S Mooseker; Santiago Ramón y Cajal; Jaume Reventós; Paulo Rodrigues; Simo Schwartz; Hiromu Suzuki; Stefan M Woerner; Hiroyuki Yamamoto; Sarah Bazzocco; Higinio Dopeso; Ana M Ferreira; Johannes Gebert; Javier Hernandez Losa; Robert M W Hofstra; Stefania Landolfi; Irati Macaya; John M Mariadason; Silvia Mateo-Lozano; Hafid Alazzouzi; Elena Andretta; Diego Arango
Brush border myosin Ia inactivation in gastric but not endometrial tumors.
Christine S van der Werf; Joke B G M Verheij; M Kathryn Liszewski; Edward O'Loughlin; Yunia Sribudiani; John P Atkinson; Alice S Brooks; Matthew Carroll; Chien-Huan Chen; Robert M W Hofstra
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
Gerben Duns; Cor Giezen; Robert M W Hofstra; Joost Kluiver; Anke Van den Berg; Eva van den Berg; Marcory C R F van Dijk; Inge van Duivenbode; Harry van Goor; Klaas Kok
The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.

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2013: Rocco Mazzolini; Mark S Mooseker; Santiago Ramón y Cajal; Jaume Reventós; Paulo Rodrigues; Simo Schwartz; Hiromu Suzuki; Stefan M Woerner; Hiroyuki Yamamoto; Sarah Bazzocco; Higinio Dopeso; Ana M Ferreira; Johannes Gebert; Javier Hernandez Losa; Robert M W Hofstra; Stefania Landolfi; Irati Macaya; John M Mariadason; Silvia Mateo-Lozano; Hafid Alazzouzi; Elena Andretta; Diego Arango
Brush border myosin Ia inactivation in gastric but not endometrial tumors.
International journal of cancer. Journal international du cancer 2013;132(8):1790-9.
2013: Christine S van der Werf; Joke B G M Verheij; M Kathryn Liszewski; Edward O'Loughlin; Yunia Sribudiani; John P Atkinson; Alice S Brooks; Matthew Carroll; Chien-Huan Chen; Robert M W Hofstra
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(4):310-3.
2013: Gerben Duns; Cor Giezen; Robert M W Hofstra; Joost Kluiver; Anke Van den Berg; Eva van den Berg; Marcory C R F van Dijk; Inge van Duivenbode; Harry van Goor; Klaas Kok
The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.
Genes, chromosomes & cancer 2013;52(2):165-73.
2013: Anne-Sophie Jannot; Marine Masse-Morel; Arnold Munnich; Anna Pelet; Damien Sanlaville; Jeanne Amiel; Stacey Arnold; Nadege Bondurand; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Asma Chaoui; Françoise Clerget-Darpoux; Alexandra Henrion-Caude; Robert M W Hofstra; Stanislas LYONNET
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease.
PloS one 2013;8(5):e62519.
2013: Christine S van der Werf; Helga Westers; Siobhan Conroy; Robert M W Hofstra; Nai-Hua Hsiao; Joana Paredes; Ana S Ribeiro; Raquel Seruca; Yunia Sribudiani; Sven C D van IJzendoorn
CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development.
PloS one 2013;8(2):e54649.
2013: Maria E Baardman; Marian K Bakker; Rolf M F Berger; Robert M W Hofstra; Wilhelmina S Kerstjens-Frederikse; Torsten Plösch
The role of maternal-fetal cholesterol transport in early fetal life: current insights.
Biology of reproduction 2013;88(1):24.
2013: Bryony A Thompson; Maxime P Vallee; Erin L Young; Chloe Tessereau; Alun Thomas; Ivan A Adzhubey; Russell Bell; Ken Boucher; Bingjian Feng; Thierry Frebourg; David E Goldgar; Marc S Greenblatt; Johanna C Herkert; Robert M W Hofstra; Biao Li; Sean D Mooney; Predrag Radivojac; Rolf H Sijmons; Amanda B Spurdle; Shamil Sunyaev; Sean V Tavtigian
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Human mutation 2013;34(1):255-65.
2012: Hans H G Verbeek; Anneke C Muller Kobold; John T M Plukker; Anouk N A van der Horst-Schrivers; Adrienne H Brouwers; J W B de Groot; Robert M W Hofstra; Klaas P Koopmans; Thera P Links
Clinical relevance of 18F-FDG PET and 18F-DOPA PET in recurrent medullary thyroid carcinoma.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2012;53(12):1863-71.
2012: Lene Juel Rasmussen; Brigitte Royer-Pokora; Sean Tavtigian; Mark Drost; Christopher D Heinen; Robert M W Hofstra; Niels De Wind
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.
Human mutation 2012;33(12):1617-25.
2012: Margriet M de Vries; Catarina Eloy; Robert M W Hofstra; Thera P Links; Valdemar Maximo; John T M Plukker; Patricia Castro; Ricardo Celestino; Manuel Sobrinho-Simões; Jacqueline E van der Wal; Paula Soares
RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.
Histopathology 2012;61(5):833-43.
2012: Maria E Baardman; Rolf M F Berger; Jan Jaap H M Erwich; Robert M W Hofstra; Wilhelmina S Kerstjens-Frederikse; Dieter Lütjohann; Torsten Plösch
The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?
American journal of obstetrics and gynecology 2012;207(3):202.e19-25.
2012: Anne-Sophie Jannot; Francesca Lantieri; Arnold Munnich; Anna Pelet; Paul K H Tam; Joke B G M Verheij; Jeanne Amiel; Stacey Marie Arnold; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Françoise Clerget-Darpoux; Raquel M Fernandez; Mercè Garcia-Barcelo; Robert M W Hofstra; Stanislas LYONNET
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
European journal of human genetics : EJHG 2012;20(9):917-20.
2012: Jorieke E H Bergman; Hermien E K de Walle; Lies Hoefsloot; Nicole Janssen; Nanna Dahl Rendtorff; Jeroen Schoots; Lisbeth Tranebjaerg; Almer M van der Sloot; Conny van Ravenswaaij-Arts; Robert M W Hofstra
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Human mutation 2012;33(8):1251-60.
2012: Nicole Janssen; Marianne Lodahl; Jeroen Schoots; Morris A Swertz; Lisbeth Tranebjaerg; Conny van Ravenswaaij-Arts; Jorieke E H Bergman; Robert M W Hofstra; Lies Hoefsloot
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Human mutation 2012;33(8):1149-60.
2012: Gerben Duns; Cor Giezen; Robert M W Hofstra; Harry Hollema; Osinga Jan; Angela Kuik; Jantine G Sietzema; Eva van den Berg; Pieter van der Vlies; Inge van Duivenbode; Jelkje J Bergsma; Harrie Bijnen; Klaas Kok
Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development.
Human mutation 2012;33(7):1059-62.
2012: Pia Alhopuro; Diego Arango; Mia Biström; Ana M Ferreira; Sampsa Hautaniemi; Elina Heliövaara; Robert M W Hofstra; Heikki Järvinen; Auli Karhu; Heli J Lehtonen; Jukka-Pekka Mecklin; Iina Niittymäki; Kari Nousiainen; Torben F Orntoft; Jani Puhakka; Anniina Raitila; Ari Ristimäki; Juha Saharinen; Heli Sammalkorpi; Raquel Seruca; Sónia Sousa; Sari Tuupanen; Lauri A Aaltonen
Candidate driver genes in microsatellite-unstable colorectal cancer.
International journal of cancer. Journal international du cancer 2012;130(7):1558-66.
2012: Maria E Baardman; Rolf M F Berger; Eva Corpeleijn; H E K de Walle; Robert M W Hofstra; Wilhelmina S Kerstjens-Frederikse; Marian K Bakker
Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?
Heart (British Cardiac Society) 2012;98(6):474-9.
2012: Christine S Van Der Werf; Sven C D van IJzendoorn; Michel Vekemans; Joke B G M Verheij; Tara D Wabbersen; Sirkka L Zeder; Candice Babarit; Isabella Ceccherini; Heather C Etchevers; Edward J Hoffenberg; Nai-Hua Hsiao; Peter M Kroisel; Stanislas Lyonnet; Joana Paredes; Ana S Ribeiro; Richard A Schreiber; Raquel Seruca; Iain T Shepherd; Gerard J Te Meerman; Dick Tibboel; Robert M W Hofstra
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology 2012;142(3):453-462.e3.
2012: Mark Drost; Robert M W Hofstra; Lene Juel Rasmussen; Sandrine van Hees; José B M Zonneveld; Niels De Wind
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Human mutation 2012;33(3):488-94.
2012: Peter C van den Akker; Robert M W Hofstra; Marcel F Jonkman; Gonnie Meijer; Miranda Nijenhuis; Anna M G Pasmooij
Natural gene therapy in dystrophic epidermolysis bullosa.
Archives of dermatology 2012;148(2):213-6.
2011: Dianne M Heijink; Robert M W Hofstra; Geke A P Hospers; Steven de Jong; Elisabeth G E de Vries; Jan J Koornstra; Marcel A T M van Vugt; Jan H Kleibeuker
Perspectives for tailored chemoprevention and treatment of colorectal cancer in Lynch syndrome.
Critical reviews in oncology/hematology 2011;80(2):264-77.
2011: Peter C van den Akker; Anthonie J van Essen; Giovanna Zambruno; Johann W Bauer; Leena Bruckner-Tuderman; Daniele Castiglia; Cristina Has; Robert M W Hofstra; Marcel F Jonkman; Alfred Klausegger; John A McGrath; Jemima E Mellerio; Trebor Rengaw; Morris A Swertz
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Human mutation 2011;32(10):1100-7.
2011: Rudolf S N Fehrmann; Eleanora M Festen; Danny Arends; Marc Jan Bonder; Wim A Buurman; Patrick Deelen; Clara C Elbers; Jingyuan Fu; Harry J M Groen; Marten H Hofker; Robert M W Hofstra; Ritsert C Jansen; Roel A Ophoff; Mathieu Platteel; Sander Rensen; Christiaan G J Saris; Asia Smolonska; Gerard J Te Meerman; Gosia Trynka; Leonard H van den Berg; David A van Heel; Jan H Veldink; Rinse Weersma; Harm-Jan Westra; Cisca Wijmenga; Marcel G M Wolfs; Alexandra Zhernakova; Lude Franke
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.
PLoS genetics 2011;7(8):e1002197.
2011: Wilhelmina S Kerstjens-Frederikse; Jolien S Ruiter; Arno M Temmerman; Peter C Van Den Akker; Joost P van Melle; Gideon J Du Marchie Sarvaas; Robert M W Hofstra; Rolf M F Berger
Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
Heart (British Cardiac Society) 2011;97(15):1228-32.
2011: Hans H G Verbeek; Maria M Alves; J W B de Groot; Jan Osinga; John T M Plukker; Thera P Links; Robert M W Hofstra
The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.
The Journal of clinical endocrinology and metabolism 2011;96(6):E991-5.
2011: Ivan Plaza-Menacho; Andrea Morandi; Luca Mologni; Piet Boender; Carlo Gambacorti-Passerini; Anthony I Magee; Robert M W Hofstra; Phillip Knowles; Neil McDonald; Clare M Isacke
Focal adhesion kinase (FAK) binds RET kinase via its FERM domain, priming a direct and reciprocal RET-FAK transactivation mechanism.
The Journal of biological chemistry 2011;286(19):17292-302.
2011: Johanna C Herkert; Renée C Niessen; Maria J W Olderode-Berends; Hermine E Veenstra-Knol; Yvonne J Vos; Heleen M van der Klift; Rene Scheenstra; Carli M J Tops; Arend Karrenbeld; Frans T M Peters; Robert M W Hofstra; Jan H Kleibeuker; Rolf Sijmons
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
European journal of cancer (Oxford, England : 1990) 2011;47(7):965-82.
2011: P A van der Zwaag; J Peter van Tintelen; Frans Gerbens; Jan D H Jongbloed; Ludolf G Boven; J J van der Smagt; W P van der Roest; Irene van Langen; H Bikker; R N W Hauer; Maarten P van den Berg; Robert M W Hofstra; Gerard te Meerman
Haplotype sharing test maps genes for familial cardiomyopathies(†).
Clinical genetics 2011;79(5):459-67.
2011: Peter C van den Akker; Jemima E Mellerio; Anna E Martinez; Lu Liu; Rowdy Meijer; Patricia J C Dopping-Hepenstal; Anthonie J van Essen; Hans Scheffer; Robert M W Hofstra; John A McGrath; Marcel F Jonkman
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
Journal of medical genetics 2011;48(3):160-7.
2011: Yunia Sribudiani; Marco Metzger; Jan Osinga; Amanda Rey; Alan J Burns; Nikhil Thapar; Robert M W Hofstra
Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.
Gastroenterology 2011;140(2):572-582.e2.
2010: Maria M Alves; Grzegorz Burzynski; Jean-Marie Delalande; Jan Osinga; Annemieke van der Goot; Amalia M Dolga; Esther de Graaff; Alice S Brooks; Marco Metzger; Ulrich L M Eisel; Iain T Shepherd; Bart J L Eggen; Robert M W Hofstra
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
Human molecular genetics 2010;19(18):3642-51.
2010: Rolf Sijmons; Yvonne J Vos; Johanna C Herkert; Krista K Bos; Martijn F Lutke Holzik; Josette E H M Hoekstra-Weebers; Robert M W Hofstra; Harald J Hoekstra
Screening for germline DND1 mutations in testicular cancer patients.
Familial cancer 2010;9(3):439-42.
2010: Tjakko J van Ham; Mats A Holmberg; Annemieke T van der Goot; Eva Teuling; Moises Garcia-Arencibia; Hyun-Eui Kim; Deguo Du; Karen L Thijssen; Marit Wiersma; Rogier Burggraaff; Petra van Bergeijk; Jeroen van Rheenen; G Jerre van Veluw; Robert M W Hofstra; David C Rubinsztein; Ellen A A Nollen
Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.
Cell 2010;142(4):601-12.
2010: Eileen Sproat Emison; Mercè Garcia-Barcelo; Elizabeth A Grice; Francesca Lantieri; Jeanne Amiel; Grzegorz Burzynski; Raquel M Fernandez; Li Hao; Carl S Kashuk; Kristen West; Xiaoping Miao; Paul K H Tam; Paola Griseri; Isabella Ceccherini; Anna Pelet; Anne-Sophie Jannot; Loïc de Pontual; Alexandra Henrion-Caude; Stanislas LYONNET; Joke B G M Verheij; Robert M W Hofstra; Guillermo Antiñolo; Salud Borrego; Andy McCallion; Aravinda Chakravarti
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
American journal of human genetics 2010;87(1):60-74.
2010: Gerben Duns; Eva van den Berg; Inge van Duivenbode; Jan Osinga; Harry Hollema; Robert M W Hofstra; Klaas Kok
Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.
Cancer research 2010;70(11):4287-91.
2010: C S Tang; Y Sribudiani; X P Miao; A R de Vries; G Burzynski; Man-ting So; Y Y Leon; B H Yip; J Osinga; K J W S Hui; J B G M Verheij; Stacey Cherny; P K H Tam; Pak C Sham; Robert M W Hofstra; Maria-Mercè Garcia-Barceló
Fine mapping of the 9q31 Hirschsprung's disease locus.
Human genetics 2010;127(6):675-83.
2010: Robert M W Hofstra; Rolf Sijmons
Cell-free assay breakthrough for MLH1 variants.
Human mutation 2010;31(3):v.
2010: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; AM ten Berge; Martijn Bruining; Merel C Van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte-Dijkstra; Connie T R M Schrander-Stumpel; Robert M W Hofstra
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
Journal of medical genetics 2010;47(3):169-75.
2010: Sérgia Velho; Carla Oliveira; Joana Paredes; Sónia Sousa; Marina Leite; Paulo Matos; Fernanda Milanezi; Ana Sofia Ribeiro; Nuno Mendes; Danilo Licastro; Auli Karhu; Maria José Oliveira; M J L Ligtenberg; Richard Hamelin; Fátima Carneiro; Annika Lindblom; Paivi Peltomaki; Sérgio Castedo; Simó Schwartz; peter Jordan; Lauri A Aaltonen; Robert M W Hofstra; Gianpaolo Suriano; Elia Stupka; Arsenio M Fialho; Raquel Seruca
Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.
Human molecular genetics 2010;19(4):697-706.
2010: Maria M M Alves; Jan Osinga; Joke B G M Verheij; Marco Metzger; Bart J L Eggen; Robert M W Hofstra
Mutations in SCG10 are not involved in Hirschsprung disease.
PloS one 2010;5(12):e15144.
2010: Yvonne J Vos; Robert M W Hofstra
An updated and upgraded L1CAM mutation database.
Human mutation 2010;31(1):E1102-9.
2009: Ana Monteiro Ferreira; Helga Westers; André Albergaria; Raquel Seruca; Robert M W Hofstra
Estrogens, MSI and Lynch syndrome-associated tumors.
Biochimica et biophysica acta 2009;1796(2):194-200.
2009: J Peter van Tintelen; Isabelle C Van Gelder; Angeliki Asimaki; Albert J H Suurmeijer; Ans C P Wiesfeld; Jan D H Jongbloed; Arthur van den Wijngaard; Jan B M Kuks; Karin Y van Spaendonck-Zwarts; Nicolette Notermans; Ludolf G Boven; Freek van den Heuvel; Hermine E Veenstra-Knol; Jeffrey E Saffitz; Robert M W Hofstra; Maarten P van den Berg
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
Heart rhythm : the official journal of the Heart Rhythm Society 2009;6(11):1574-83.
2009: Peter C van den Akker; Wendy Hettema; Rowdy Meijer; Marcel F Jonkman; Robert M W Hofstra; Hans Scheffer
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
Genetic testing and molecular biomarkers 2009;13(5):589-97.
2009: Peter C van den Akker; Anthonie J van Essen; Marian M J Kraak; Rowdy Meijer; Miranda Nijenhuis; Gonnie Meijer; Robert M W Hofstra; Hendri H Pas; Hans Scheffer; Marcel F Jonkman
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
Journal of dermatological science 2009;56(1):9-18.
2009: Paul A van der Zwaag; Jan D H Jongbloed; Maarten P van den Berg; Jasper J van der Smagt; Roselie Jongbloed; Hennie Bikker; Robert M W Hofstra; J Peter van Tintelen
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Human mutation 2009;30(9):1278-83.
2009: Ana M Ferreira; Helga Westers; Sónia Sousa; Ying Wu; Renée C Niessen; Maran Olderode-Berends; Tineke van der Sluis; Peter T W Reuvekamp; Raquel Seruca; Jan H Kleibeuker; Harry Hollema; Rolf Sijmons; Robert M W Hofstra
Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients.
The Journal of pathology 2009;219(1):96-102.
2009: Renée C Niessen; Robert M W Hofstra; Helga Westers; M J L Ligtenberg; Krista Kooi; Paul O J Jager; Marloes L de Groote; Trijnie Dijkhuizen; Maran J W Olderode-Berends; Harry Hollema; Jan H Kleibeuker; Rolf Sijmons
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
Genes, chromosomes & cancer 2009;48(8):737-44.
2009: Ana M Ferreira; Helga Westers; Ying Wu; Renée C Niessen; Maran Olderode-Berends; Tineke van der Sluis; Ate G van der Zee; Harry Hollema; Jan H Kleibeuker; Rolf Sijmons; Robert M W Hofstra
Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
Genes, chromosomes & cancer 2009;48(7):552-7.
2009: Paola Griseri; Yvonne Vos; Roberto Giorda; stefania gimelli; Silvana Beri; Giuseppe Santamaria; Guendalina Mognato; Robert M W Hofstra; Giorgio Gimelli; Isabella Ceccherini
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
European journal of human genetics : EJHG 2009;17(4):483-90.
2009: Jianghua Ou; Merete Rasmussen; Helga Westers; Sofie D Andersen; Paul O Jager; Krista A Kooi; Renée C Niessen; Bart J L Eggen; Finn C Nielsen; Jan H Kleibeuker; Rolf Sijmons; Lene Juel Rasmussen; Robert M W Hofstra
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.
Genes, chromosomes & cancer 2009;48(4):340-50.
2009: Renée C Niessen; Jan H Kleibeuker; Helga Westers; Paul O J Jager; Dennie Rozeveld; Krista K Bos; Wytske Boersma-van Ek; Harry Hollema; Rolf Sijmons; Robert M W Hofstra
PMS2 involvement in patients suspected of Lynch syndrome.
Genes, chromosomes & cancer 2009;48(4):322-9.
2009: Anne P G Crijns; Rudolf S N Fehrmann; Steven de Jong; Frans Gerbens; Gert Jan Meersma; Harry G Klip; Harry Hollema; Robert M W Hofstra; Gerard J te Meerman; Elisabeth G E de Vries; Ate G J van der Zee
Survival-related profile, pathways, and transcription factors in ovarian cancer.
PLoS medicine 2009;6(2):e24.
2009: Carla Pinto; Isabel Veiga; Manuela Pinheiro; António Peixoto; Armando Pinto; José M Lopes; Rui M Reis; Carla Oliveira; Manuela Baptista; Lúcia Roque; Fernando Regateiro; Luís Cirnes; Robert M W Hofstra; Raquel Seruca; Sérgio Castedo; Manuel Teixeira
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
Familial cancer 2009;8(4):383-90.
2008: Robert M W Hofstra; Amanda B Spurdle; Diana Eccles; William D Foulkes; Niels De Wind; Nicoline Hoogerbrugge; Frans B L Hogervorst
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.
Human mutation 2008;29(11):1292-303.
2008: Jianghua Ou; Renée C Niessen; Jan Vonk; Helga Westers; Robert M W Hofstra; Rolf Sijmons
A database to support the interpretation of human mismatch repair gene variants.
Human mutation 2008;29(11):1337-41.
2008: Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf Sijmons; Olga Sinilnikova; Amanda B Spurdle
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
Human mutation 2008;29(11):1273-81.
2008: Tjakko J van Ham; Karen L Thijssen; Rainer Breitling; Robert M W Hofstra; Ronald H Plasterk; Ellen A A Nollen
C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging.
PLoS genetics 2008;4(3):e1000027.
2008: Mafalda Pinto; Ying Wu; Rob G J Mensink; Luís Cirnes; Raquel Seruca; Robert M W Hofstra
Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype.
Cancer genetics and cytogenetics 2008;180(2):110-4.
2008: Rudolf S N Fehrmann; Hendrik J M de Jonge; Arja ter Elst; André de Vries; Anne G P Crijns; Alida C Weidenaar; Frans Gerbens; Steven de Jong; Ate G J van der Zee; Elisabeth G E de Vries; Willem A Kamps; Robert M W Hofstra; Gerard te Meerman; Eveline S J M de Bont
A new perspective on transcriptional system regulation (TSR): towards TSR profiling.
PloS one 2008;3(2):e1656.
2008: Jeanne Amiel; E Sproat-Emison; Mercè Garcia-Barcelo; Francesca Lantieri; Grzegorz Burzynski; Salud Borrego; Anna Pelet; Stacey Marie Arnold; Xiaoping Miao; Paola Griseri; A S Brooks; Guillermo Antinolo; Loïc de Pontual; M Clement-Ziza; Arnold Munnich; Carl S Kashuk; K West; K K-Y Wong; Stanislas LYONNET; Aravinda Chakravarti; Paul K H Tam; Isabella Ceccherini; Robert M W Hofstra; R Fernandez
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008;45(1):1-14.
2008: Jamal Zidan; Renée C Niessen; Yael Laitman; Dennie Rozeveld; Robert M W Hofstra; Eitan Friedman
A novel MSH2 germline mutation in a Druze HNPCC family.
Familial cancer 2008;7(2):135-9.
2007: J Peter van Tintelen; Robert M W Hofstra; Hilga katerberg; Tom Rossenbacker; Ans C P Wiesfeld; Gideon J Du Marchie Sarvaas; Arthur A M Wilde; Irene M van Langen; Eline A Nannenberg; Anneke J van der Kooi; Marian Kraak; Isabelle C Van Gelder; Dirk Jan van Veldhuisen; Yvonne J Vos; Maarten P van den Berg
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
American heart journal 2007;154(6):1130-9.
2007: Anne P G Crijns; Pieter A de Graeff; Dirk Geerts; Klaske A ten Hoor; Harry Hollema; Tineke van der Sluis; Robert M W Hofstra; Geertruida H de Bock; Steven de Jong; Ate G J van der Zee; E G E de Vries
MEIS and PBX homeobox proteins in ovarian cancer.
European journal of cancer (Oxford, England : 1990) 2007;43(17):2495-505.
2007: Jianghua Ou; Renée C Niessen; Anne Lützen; Rolf Sijmons; Jan H Kleibeuker; Niels De Wind; Lene Juel Rasmussen; Robert M W Hofstra
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
Human mutation 2007;28(11):1047-54.
2007: Ivan Plaza-Menacho; Luca Mologni; Elisa Sala; Carlo Gambacorti-Passerini; Anthony I Magee; Thera P Links; Robert M W Hofstra; David Barford; Clare M Isacke
Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.
The Journal of biological chemistry 2007;282(40):29230-40.
2007: J Peter van Tintelen; Rene A Tio; Wilhelmina S Kerstjens-Frederikse; Jop H van Berlo; Ludolf G Boven; Albert J H Suurmeijer; Stefan J White; Johan T den Dunnen; Gerard te Meerman; Yvonne J Vos; Annemarie H Van Der Hout; Jan Osinga; Maarten P van den Berg; Dirk J van Veldhuisen; Charles H C M Buys; Robert M W Hofstra; Yigal M Pinto
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
Journal of the American College of Cardiology 2007;49(25):2430-9.
2007: Renée C Niessen; Jan H Kleibeuker; Paul O J Jager; Rolf Sijmons; Robert M W Hofstra
Getting rid of the PMS2 pseudogenes: mission impossible?
Human mutation 2007;28(4):414; author reply 415.
2007: Ivan Plaza-Menacho; Tineke van der Sluis; Harry Hollema; Oliver Gimm; Charles H C M Buys; Anthony I Magee; Clare M Isacke; Robert M W Hofstra; Bart Eggen
Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.
The Journal of biological chemistry 2007;282(9):6415-24.
2007: Veronica Davalos; H Dopeso; Sérgia Velho; A M Ferreira; Luís Cirnes; N Díaz-Chico; Cristina Bilbao; R Ramírez; G Rodríguez; Orlando Falcón; L León; Renée C Niessen; Gisela Keller; G Dallenbach-Hellweg; Eloi Espín; Manel Armengol; Alberto Plaja; Manuel Perucho; Kohzoh Imai; Hiroyuki Yamamoto; Johannes Gebert; Juan C Díaz-Chico; Robert M W Hofstra; Stefan M Woerner; Raquel Seruca; Simó Schwartz; Diego Arango
High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.
Oncogene 2007;26(2):308-11.
2007: Hendrik J M de Jonge; Rudolf S N Fehrmann; Eveline S J M de Bont; Robert M W Hofstra; Frans Gerbens; Willem A Kamps; Elisabeth G E de Vries; Ate G J van der Zee; Gerard te Meerman; Arja ter Elst
Evidence based selection of housekeeping genes.
PloS one 2007;2(9):e898.
2006: Renée C Niessen; Maran J W Berends; Ying Wu; Rolf Sijmons; Harry Hollema; M J L Ligtenberg; H E K de Walle; E G E de Vries; Arend Karrenbeld; Charles H C M Buys; Ate G J van der Zee; Robert M W Hofstra; Jan H Kleibeuker
Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
Gut 2006;55(12):1781-8.
2006: Ivan Plaza-Menacho; Grzegorz Burzynski; J W B de Groot; Bart Eggen; Robert M W Hofstra
Current concepts in RET-related genetics, signaling and therapeutics.
Trends in genetics : TIG 2006;22(11):627-36.
2006: J W B de Groot; Thera P Links; John T M Plukker; Cornelis J M Lips; Robert M W Hofstra
RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.
Endocrine reviews 2006;27(5):535-60.
2006: Alice S Brooks; P A Leegwater; Grzegorz Burzynski; Patrick J Willems; Bianca de Graaf; I van Langen; Peter Heutink; Ben A Oostra; Robert M W Hofstra; Aida M Bertoli Avella
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Journal of medical genetics 2006;43(7):e35.
2006: Annemarie H Van Der Hout; Ans M W van den Ouweland; Rob B van der Luijt; Hans J P Gille; Daniëlle Bodmer; Hennie T Brüggenwirth; Inge M Mulder; Pieter van der Vlies; Peter Elfferich; Maarten Huisman; Annelies M ten Berge; Joan Kromosoeto; Rumo P M Jansen; Patrick H A van Zon; Thyrsa Vriesman; Neeltje J W Arts; Majella Boutmy-de Lange; Jan C Oosterwijk; Hanne Meijers-Heijboer; Margreet G E M Ausems; Nicoline Hoogerbrugge; Senno Verhoef; D J J Halley; Yvonne J Vos; Frans B L Hogervorst; M J L Ligtenberg; Robert M W Hofstra
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
Human mutation 2006;27(7):654-66.
2006: J W B de Groot; Ivan Plaza-Menacho; Hein Schepers; Loes J Drenth-Diephuis; Jan Osinga; John T M Plukker; Thera P Links; Bart Eggen; Robert M W Hofstra
Cellular effects of imatinib on medullary thyroid cancer cells harboring multiple endocrine neoplasia Type 2A and 2B associated RET mutations.
Surgery 2006;139(6):806-14.
2006: J Peter van Tintelen; Mark M Entius; Zahurul A Bhuiyan; Roselie J Jongbloed; Ans C P Wiesfeld; Arthur A M Wilde; Jasper van der Smagt; Ludolf G Boven; marcel mannens; Irene M van Langen; Robert M W Hofstra; Luuk C Otterspoor; Pieter A Doevendans; Luz-Maria Rodriguez; Isabelle C Van Gelder; Richard N W Hauer
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Circulation 2006;113(13):1650-8.
2006: Renée C Niessen; Rolf Sijmons; Jianghua Ou; Sandra G M Olthof; Jan Osinga; M J L Ligtenberg; Frans B L Hogervorst; Janneke Weiss; Carli Tops; Frederik J Hes; Geertruida H de Bock; Charles H C M Buys; Jan H Kleibeuker; Robert M W Hofstra
MUTYH and the mismatch repair system: partners in crime?
Human genetics 2006;119(1-2):206-11.
2006: J W B de Groot; Thera P Links; C W Rouwe; Jacqueline E van der Wal; Robert M W Hofstra; John T M Plukker
[Prophylactic thyroidectomy in children who are carriers of a multiple endocrine neoplasia type 2 mutation: description of 20 cases and recommendations based on the literature].
Nederlands tijdschrift voor geneeskunde 2006;150(6):311-8.
2006: Anne P G Crijns; Frans Gerbens; A Edo D Plantinga; Gert Jan Meersma; Steven de Jong; Robert M W Hofstra; Elisabeth G E de Vries; Ate G J van der Zee; Geertruida H de Bock; Gerard te Meerman
A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis.
BMC genomics 2006;7():232.
2005: Carla Oliveira; Sérgia Velho; Enric Domingo; Ana Preto; Robert M W Hofstra; Richard Hamelin; Hiroyuki Yamamoto; Raquel Seruca; Simo Schwartz
Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer.
Oncogene 2005;24(51):7630-4.
2005: Jantine L Westra; Harry Hollema; Michael Schaapveld; Inge Platteel; Karin A Oien; Nicol Keith; R Mauritz; G J Peters; Charles H C M Buys; Robert M W Hofstra; John T M Plukker
Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patients.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2005;16(10):1646-53.
2005: Jantine L Westra; Michael Schaapveld; Harry Hollema; Jelle P de Boer; Marian M J Kraak; Daphne de Jong; Arja ter Elst; Nanno H Mulder; Charles H C M Buys; Robert M W Hofstra; John T M Plukker
Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005;23(24):5635-43.
2005: Mirjam M de Jong; Ilja M Nolte; Gerard te Meerman; Winette T A van der Graaf; Marcel J Mulder; Gerrit van der Steege; Marcel Bruinenberg; Michael Schaapveld; Renée C Niessen; Maran J W Berends; Rolf Sijmons; Robert M W Hofstra; Elisabeth G E de Vries; Jan H Kleibeuker
Colorectal cancer and the CHEK2 1100delC mutation.
Genes, chromosomes & cancer 2005;43(4):377-82.
2005: Alice S Brooks; Aida M Bertoli Avella; Grzegorz Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; René F M de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
American journal of human genetics 2005;77(1):120-6.
2005: Enric Domingo; Renée C Niessen; Carla Oliveira; Pia Alhopuro; Cátia Moutinho; Eloi Espín; Manel Armengol; Rolf Sijmons; Jan H Kleibeuker; Raquel Seruca; Lauri A Aaltonen; Kohzoh Imai; Hiroyuki Yamamoto; Simó Schwartz; Robert M W Hofstra
BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.
Oncogene 2005;24(24):3995-8.
2005: Jantine L Westra; Ludolf G Boven; Pieter van der Vlies; Hette Faber; Birgit Sikkema; Michael Schaapveld; Trijnie Dijkhuizen; Harry Hollema; Charles H C M Buys; John T M Plukker; Klaas Kok; Robert M W Hofstra
A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.
Genes, chromosomes & cancer 2005;43(2):194-201.
2005: Grzegorz Burzynski; Ilja M Nolte; Agnes Bronda; Krista K Bos; Jan Osinga; Ivan Plaza-Menacho; Bas Twigt; Saskia Maas; Alice S Brooks; Joke B G M Verheij; Charles H C M Buys; Robert M W Hofstra
Identifying candidate Hirschsprung disease-associated RET variants.
American journal of human genetics 2005;76(5):850-8.
2005: Ivan Plaza-Menacho; Roelof Koster; Almer van der Sloot; Wim J Quax; Jan Osinga; Tineke van der Sluis; Harry Hollema; Grzegorz Burzynski; Oliver Gimm; Charles H C M Buys; Bart Eggen; Robert M W Hofstra
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
Cancer research 2005;65(5):1729-37.
2005: Mirjam M de Jong; Marijke Niens; Ilja M Nolte; Gerard te Meerman; Winette T A van der Graaf; Marcel J Mulder; Gerrit van der Steege; Marcel Bruinenberg; Michael Schaapveld; Rolf Sijmons; Robert M W Hofstra; Elisabeth G E de Vries; Jan H Kleibeuker
The human leukocyte antigen region and colorectal cancer risk.
Diseases of the colon and rectum 2005;48(2):303-6.
2005: J W B de Groot; Rolf Sijmons; Thera P Links; John T M Plukker; Robert M W Hofstra
Medullary thyroid cancer in a patient with Hirschsprung disease with a C609Y germline RET-mutation.
Journal of pediatric gastroenterology and nutrition 2005;40(2):226-9.
2005: Alice S Brooks; Ben A Oostra; Robert M W Hofstra
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
Clinical genetics 2005;67(1):6-14.
2004: Mirjam M de Jong; Gerard te Meerman; Winette T A van der Graaf; E G E de Vries; Ilja M Nolte; Marcel J Mulder; Marcel Bruinenberg; Gerrit van der Steege; Michael Schaapveld; Rolf Sijmons; Robert M W Hofstra; Jan H Kleibeuker
No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2004;36(12):821-3.
2004: Theo A Schuurs; Frans Gerbens; Joost A B van der Hoeven; Petra J Ottens; Krista A Kooi; Henri G D Leuvenink; Robert M W Hofstra; Rutger J Ploeg
Distinct transcriptional changes in donor kidneys upon brain death induction in rats: insights in the processes of brain death.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2004;4(12):1972-81.
2004: Carla Oliveira; Jantine L Westra; Diego Arango; Miina Ollikainen; Enric Domingo; Ana Ferreira; Sérgia Velho; Renée C Niessen; Kristina Lagerstedt; Pia Alhopuro; Päivi Laiho; Isabel Veiga; Manuel Teixeira; M J L Ligtenberg; Jan H Kleibeuker; Rolf Sijmons; John T M Plukker; Kohzoh Imai; Pedro Lage; Richard Hamelin; Cristina Albuquerque; Simo Schwartz; Annika Lindblom; Paivi Peltomaki; Hiroyuki Yamamoto; Lauri A Aaltonen; Raquel Seruca; Robert M W Hofstra
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
Human molecular genetics 2004;13(19):2303-11.
2004: Enric Domingo; Päivi Laiho; Miina Ollikainen; Mafalda Pinto; L Wang; A J French; Jantine L Westra; T Frebourg; Eloi Espín; Manel Armengol; Richard Hamelin; Hiroyuki Yamamoto; Robert M W Hofstra; Raquel Seruca; Annika Lindblom; Päivi Peltomäki; S N Thibodeau; Lauri A Aaltonen; Simó Schwartz
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
Journal of medical genetics 2004;41(9):664-8.
2004: Grzegorz Burzynski; Ilja M Nolte; Jan Osinga; Isabella Ceccherini; Bas Twigt; Saskia Maas; Alice Brooks; Joke B G M Verheij; Ivan Plaza-Menacho; Charles H C M Buys; Robert M W Hofstra
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
European journal of human genetics : EJHG 2004;12(8):604-12.
2004: Mirjam M de Jong; Robert M W Hofstra; Krista A Kooi; Jantine L Westra; Maran J W Berends; Ying Wu; Harry Hollema; Tineke van der Sluis; Winette T A van der Graaf; Elisabeth G E de Vries; Michael Schaapveld; Rolf Sijmons; Gerard te Meerman; Jan H Kleibeuker
No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.
Cancer genetics and cytogenetics 2004;152(1):70-1.
2004: Ivan Plaza-Menacho; J W B de Groot; Thera P Links; John T M Plukker; Bart Eggen; Robert M W Hofstra
Re: "Inhibition of medullary thyroid carcinoma (MTC) cell proliferation and RET phosphorylation by tyrosine kinase inhibitors".
Surgery 2004;135(2):240-1; author reply 241.
2004: Renée C Niessen; Rolf Sijmons; Maran J W Berends; Jianghua Ou; Robert M W Hofstra; Jan H Kleibeuker
Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.
Scandinavian journal of gastroenterology. Supplement 2004;(241):70-7.
2004: Robert M W Hofstra; Inge M Mulder; Rolf H A M Vossen; Pia A M de Koning-Gans; Marian Kraak; Ieke B Ginjaar; Annemarie H Van Der Hout; Egbert Bakker; Charles H C M Buys; Gert-Jan B van Ommen; Anthonie J van Essen; Johan T den Dunnen
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Human mutation 2004;23(1):57-66.
2003: Maran J W Berends; Ying Wu; Rolf Sijmons; Tineke van der Sluis; Wietske Boersmavan Ek; M J L Ligtenberg; Neeltje J W Arts; Klaske A ten Hoor; Jan H Kleibeuker; Elisabeth G E de Vries; Marian J E Mourits; Harry Hollema; Charles H C M Buys; Robert M W Hofstra; Ate G J van der Zee
Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2003;21(23):4364-70.
2003: Mafalda Pinto; Ying Wu; Gianpaolo Suriano; Rob G J Mensink; Alex Duval; Carla Oliveira; Beatriz Carvalho; Richard Hamelin; Raquel Seruca; Robert M W Hofstra
MBD4 mutations are rare in gastric carcinomas with microsatellite instability.
Cancer genetics and cytogenetics 2003;145(2):103-7.
2003: Rudy Komdeur; Harald J Hoekstra; Willemina M Molenaar; Eva van den Berg; Nynke Zwart; Elisabeth Pras; Ivan Plaza-Menacho; Robert M W Hofstra; Winette T A van der Graaf
Clinicopathologic assessment of postradiation sarcomas: KIT as a potential treatment target.
Clinical cancer research : an official journal of the American Association for Cancer Research 2003;9(8):2926-32.
2003: T Kahraman; J W B de Groot; C Rouwe; Robert M W Hofstra; Thera P Links; Rolf Sijmons; John T M Plukker
Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2003;29(4):331-5.
2003: Anthonie J van Essen; Inge M Mulder; Pieter van der Vlies; Annemarie H Van Der Hout; Charles H C M Buys; Robert M W Hofstra; Johan T den Dunnen
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.
American journal of medical genetics. Part A 2003;118A(3):296-8.
2003: Reetta Kariola; Robyn Otway; Karin E Lönnqvist; Tiina E Raevaara; Finlay Macrae; Yvonne J Vos; M R J Kohonen-Corish; Robert M W Hofstra; Minna Nyström-Lahti
Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?
Human genetics 2003;112(2):105-9.
2002: Mirjam M de Jong; Ilja M Nolte; Gerard te Meerman; Winette T A van der Graaf; Elisabeth G E de Vries; Rolf Sijmons; Robert M W Hofstra; Jan H Kleibeuker
Low-penetrance genes and their involvement in colorectal cancer susceptibility.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2002;11(11):1332-52.
2002: Hester Y Kroes; M Takahashi; R J Zijlstra; J A L L Baert; Krista A Kooi; Robert M W Hofstra; Anthonie J van Essen
Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
American journal of medical genetics 2002;112(4):390-3.
2002: Tiina E Raevaara; T Timoharju; Karin E Lönnqvist; Reetta Kariola; M Steinhoff; Robert M W Hofstra; Elisabeth Mangold; Yvonne J Vos; Minna Nyström-Lahti
Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer.
Journal of medical genetics 2002;39(10):747-50.
2002: Paola Griseri; Barbara Pesce; Giovanna Patrone; Jan Osinga; Francesco Puppo; Monica Sancandi; Robert M W Hofstra; Giovanni Romeo; Roberto Ravazzolo; Marcella Devoto; Isabella Ceccherini
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
American journal of human genetics 2002;71(4):969-74.
2002: Annemarie H Van Der Hout; Edwin Verlind; Frits A Beemer; Charles H C M Buys; Robert M W Hofstra; Hans Scheffer
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
Human mutation 2002;20(3):236.
2002: Joke B G M Verheij; Jürgen Kunze; Jan Osinga; Anthonie J van Essen; Robert M W Hofstra
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
American journal of medical genetics 2002;108(3):223-5.
2002: Robert M W Hofstra; Peter Elfferich; Jan Osinga; Edwin Verlind; E Fransen; J López Pisón; C E M de Die-Smulders; I Stolte-Dijkstra; Charles H C M Buys
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
Journal of medical genetics 2002;39(3):E11.
2002: Melissa A Parisi; Raj P Kapur; Ian Neilson; Robert M W Hofstra; Lynda W Holloway; Ron C Michaelis; Kathleen A Leppig
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
American journal of medical genetics 2002;108(1):51-6.
2002: Maran J W Berends; Ying Wu; Rolf Sijmons; Rob G J Mensink; Tineke van der Sluis; Jannet M Hordijk-Hos; Elisabeth G E de Vries; Harry Hollema; Arend Karrenbeld; Charles H C M Buys; Ate G J van der Zee; Robert M W Hofstra; Jan H Kleibeuker
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
American journal of human genetics 2002;70(1):26-37.
2001: Maartje Boon; Ilja M Nolte; Marcel Bruinenberg; Geert T Spijker; Peter Terpstra; J Raelson; Jacques De Keyser; CP Zwanikken; MM Hulsbeek; Robert M W Hofstra; Charles H C M Buys; Gerard te Meerman
Mapping of a susceptibility gene for multiple sclerosis to the 51 kb interval between G511525 and D6S1666 using a new method of haplotype sharing analysis.
Neurogenetics 2001;3(4):221-30.
2001: Ying Wu; Maran J W Berends; Rolf Sijmons; Rob G J Mensink; Edwin Verlind; Krista A Kooi; Tineke van der Sluis; C Kempinga; A G van dDer Zee; Harry Hollema; Charles H C M Buys; Jan H Kleibeuker; Robert M W Hofstra
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
Nature genetics 2001;29(2):137-8.
2001: Ying Wu; Maran J W Berends; J G Post; Rob G J Mensink; Edwin Verlind; Tineke van der Sluis; C Kempinga; Rolf Sijmons; Ate G J van der Zee; Harry Hollema; Jan H Kleibeuker; Charles H C M Buys; Robert M W Hofstra
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
Gastroenterology 2001;120(7):1580-7.
2001: Anja Wagner; Yvonne M C Hendriks; E Johanna Meijers-Heijboer; Wiljo J F De Leeuw; Hans Morreau; Robert M W Hofstra; Carli Tops; E Bik; Annette H J T Bröcker-Vriends; Conny A van der Meer; Dick Lindhout; H F A Vasen; Martijn H Breuning; Cees J Cornelisse; C van Krimpen; Martinus F Niermeijer; A H Zwinderman; Juul Wijnen; Riccardo Fodde
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.
Journal of medical genetics 2001;38(5):318-22.
2001: Maran J W Berends; Harry Hollema; Ying Wu; Tineke van der Sluis; Rob G J Mensink; Klaske A ten Hoor; Rolf Sijmons; Elisabeth G E de Vries; E Pras; Marian J E Mourits; Robert M W Hofstra; Charles H C M Buys; Jan H Kleibeuker; Ate G J van der Zee
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
International journal of cancer. Journal international du cancer 2001;92(3):398-403.
2001: Wim Bleeker; VM Hayes; Arend Karrenbeld; Robert M W Hofstra; Edwin Verlind; J Hermans; S Poppema; Charles H C M Buys; John T M Plukker
Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancer.
Diseases of the colon and rectum 2001;44(3):358-63.
2001: Maran J W Berends; Ying Wu; Rolf Sijmons; Robert M W Hofstra; Ate G J van der Zee; Charles H C M Buys; Jan H Kleibeuker
Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible?
Scandinavian journal of gastroenterology. Supplement 2001;(234):61-7.
2000: Maran J W Berends; A Cats; Harry Hollema; Arend Karrenbeld; J A M Beentjes; Rolf Sijmons; Rob G J Mensink; Robert M W Hofstra; René C J Verschueren; Jan H Kleibeuker
Adrenocortical adenocarcinoma in an MSH2 carrier: coincidence or causal relation?
Human pathology 2000;31(12):1522-7.
2000: Mafalda Pinto; Carla Oliveira; José Carlos Machado; Luís Cirnes; J Tavares; Fátima Carneiro; Richard Hamelin; Robert M W Hofstra; Raquel Seruca; Manuel Sobrinho-Simões
MSI-L gastric carcinomas share the hMLH1 methylation status of MSI-H carcinomas but not their clinicopathological profile.
Laboratory investigation; a journal of technical methods and pathology 2000;80(12):1915-23.
2000: Ronit Shiri-Sverdlov; P Oefner; L Green; Ruth Gershoni Baruch; T Wagner; A Kruglikova; S Haitchick; Robert M W Hofstra; Moshe Z Papa; Inge M Mulder; Shulamith Rizel; RB Bar-Sade; Efrat Dagan; Z Abdeen; Boleslaw Goldman; Eitan Friedman
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.
Human mutation 2000;16(6):491-501.
2000: Rolf Sijmons; Robert M W Hofstra; Harry Hollema; Rob G J Mensink; Annemarie H Van Der Hout; H Hoekstra; Jan H Kleibeuker; Willemina M Molenaar; Juul Wijnen; R Fodde; H F A Vasen; Charles H C M Buys
Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer.
Genes, chromosomes & cancer 2000;29(4):353-5.
2000: VM Hayes; Jantine L Westra; Edwin Verlind; Wim Bleeker; John T M Plukker; Robert M W Hofstra; Charles H C M Buys
New comprehensive denaturing-gradient-gel- electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours.
Genes, chromosomes & cancer 2000;29(4):309-14.
2000: Wim Bleeker; VM Hayes; Arend Karrenbeld; Robert M W Hofstra; J Hermans; C C Buys; John T M Plukker
Impact of KRAS and TP53 mutations on survival in patients with left- and right-sided Dukes' C colon cancer.
The American journal of gastroenterology 2000;95(10):2953-7.
2000: Paola Griseri; Monica Sancandi; Giovanna Patrone; Renata Bocciardi; Robert M W Hofstra; Roberto Ravazzolo; Marcella Devoto; Giovanni Romeo; Isabella Ceccherini
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.
European journal of human genetics : EJHG 2000;8(9):721-4.
2000: László Sztriha; Philippe M Frossard; Robert M W Hofstra; Edwin Verlind; Michael Nork
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
Journal of child neurology 2000;15(4):239-43.
2000: Robert M W Hofstra; Ying Wu; Rein P Stulp; Peter Elfferich; Jan Osinga; Saskia Maas; L Siderius; Alice S Brooks; J J vd Ende; V M Heydendael; René Severijnen; K M Bax; Carel Meijers; Charles H C M Buys
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Human mutation 2000;15(5):418-29.
2000: Monica Sancandi; Isabella Ceccherini; M Costa; Monica Fava; B Chen; Y Wu; Robert M W Hofstra; T Laurie; M Griffths; D Burge; Paul K H Tam
Incidence of RET mutations in patients with Hirschsprung's disease.
Journal of pediatric surgery 2000;35(1):139-42; discussion 142-3.
1999: Ying Wu; Maran J W Berends; Rob G J Mensink; C Kempinga; Rolf Sijmons; Ate G J van der Zee; Harry Hollema; Jan H Kleibeuker; Charles H C M Buys; Robert M W Hofstra
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.
American journal of human genetics 1999;65(5):1291-8.
1999: VM Hayes; Ying Wu; Jan Osinga; Inge M Mulder; Pieter van der Vlies; Peter Elfferich; Charles H C M Buys; Robert M W Hofstra
Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.
Nucleic acids research 1999;27(20):e29.
1999: R Hordijk; H Wierenga; Hans Scheffer; B Leegte; Robert M W Hofstra; I Stolte-Dijkstra
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
Journal of medical genetics 1999;36(10):782-5.
1999: Juul Wijnen; Wiljo J F De Leeuw; H F A Vasen; Heleen van der Klift; Pål Møller; Astrid T Stormorken; Hanne Meijers-Heijboer; Dick Lindhout; Fred H Menko; Sandra Vossen; Gabriela Möslein; Carli Tops; Annette H J T Bröcker-Vriends; Y Wu; Robert M W Hofstra; Rolf Sijmons; Cees J Cornelisse; Hans Morreau; Riccardo Fodde
Familial endometrial cancer in female carriers of MSH6 germline mutations.
Nature genetics 1999;23(2):142-4.
1999: Joke B G M Verheij; Katelijne Bouman; R A van Lingen; J G van Lookeren Campagne; B Leegte; Anneke Y van der Veen; Robert M W Hofstra; Charles H C M Buys; Anthonie J van Essen
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
American journal of medical genetics 1999;86(2):168-73.
1999: Ying Wu; Rein P Stulp; Peter Elfferich; Jan Osinga; Charles H C M Buys; Robert M W Hofstra
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.
Nucleic acids research 1999;27(15):e9.
1999: VM Hayes; Clemens M F Dirven; A Dam; Edwin Verlind; Willemina M Molenaar; J J A Mooij; Robert M W Hofstra; Charles H C M Buys
High frequency of TP53 mutations in juvenile pilocytic astrocytomas indicates role of TP53 in the development of these tumors.
Brain pathology (Zurich, Switzerland) 1999;9(3):463-7.
1999: R Wadey; J McKie; C Papapetrou; H Sutherland; F Lohman; Jan Osinga; I Frohn; Robert M W Hofstra; Carel Meijers; F Amati; E Conti; A Pizzuti; B Dallapiccola; G Novelli; Peter J Scambler
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
American journal of human genetics 1999;65(1):247-9.
1999: Saskia Maas; Alice S Brooks; Raoul Hennekam; V M Heydendael; F A Wijburg; Robert M W Hofstra
[Genes and genetics in Hirschsprung's disease].
Nederlands tijdschrift voor geneeskunde 1999;143(26):1352-6.
1999: Alice S Brooks; Martijn H Breuning; Jan Osinga; J J vd Smagt; C E Catsman; Charles H C M Buys; Carel Meijers; Robert M W Hofstra
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).
Journal of medical genetics 1999;36(6):485-9.
1999: VM Hayes; Wim Bleeker; Edwin Verlind; Tineke Timmer; Arend Karrenbeld; John T M Plukker; M P Marx; Robert M W Hofstra; Charles H C M Buys
Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 1999;8(1):2-10.
1999: Wilhelmina S Kerstjens-Frederikse; Robert M W Hofstra; Anthonie J van Essen; J H Meijers; Charles H C M Buys
A Hirschsprung disease locus at 22q11?
Journal of medical genetics 1999;36(3):221-4.
1999: Joke B G M Verheij; Mark F Wildhagen; Robert M W Hofstra; G Pals; J Dik F Habbema; Leo P ten Kate
Preconceptional screening of couples for carriers of cystic fibrosis: a prospective evaluation of effects, costs and savings for different mutation detection methods.
Community genetics 1999;2(2-3):74-81.
1999: Robert M W Hofstra; Olivier Valdenaire; E Arch; Jan Osinga; H Kroes; BM Löffler; Ada Hamosh; Carel Meijers; Charles H C M Buys
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
American journal of human genetics 1999;64(1):304-8.
1998: Ying Wu; VM Hayes; Jan Osinga; Inge M Mulder; M W G Looman; Charles H C M Buys; Robert M W Hofstra
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis.
Nucleic acids research 1998;26(23):5432-40.
1998: VM Hayes; Robert M W Hofstra; Charles H C M Buys; H Hollema; A G van der Zee
Homozygous arginine-72 in wild type p53 and risk of cervical cancer.
Lancet 1998;352(9142):1756.
1998: Rolf Sijmons; Robert M W Hofstra; F A Wijburg; Thera P Links; Rein P Zwierstra; A Vermey; D C Aronson; G Tan-Sindhunata; G J Brouwers-Smalbraak; Saskia Maas; Charles H C M Buys
Oncological implications of RET gene mutations in Hirschsprung's disease.
Gut 1998;43(4):542-7.
1998: Ronald R de Krijger; A Brooks; Erwin van der Harst; Robert M W Hofstra; Hajo A Bruining; J C Molenaar; Carel Meijers
Constipation as the presenting symptom in de novo multiple endocrine neoplasia type 2B.
Pediatrics 1998;102(2 Pt 1):405-8.
1998: Hans Scheffer; Ewout R Brunt; G J Mol; Pieter van der Vlies; Rein P Stulp; Edwin Verlind; G Mantel; Y N Averyanov; Robert M W Hofstra; Charles H C M Buys
Three novel KCNA1 mutations in episodic ataxia type I families.
Human genetics 1998;102(4):464-6.
1998: Lois M Mulligan; Tineke Timmer; SM Ivanchuk; Barbara G Campling; LC Young; Pamela Rabbitts; Vasi Sundaresan; Robert M W Hofstra; Charis Eng
Investigation of the genes for RET and its ligand complex, GDNF/GFR alpha-I, in small cell lung carcinoma.
Genes, chromosomes & cancer 1998;21(4):326-32.
1997: Robert M W Hofstra; Olimpia Fattoruso; Loredana Quadro; Ying Wu; A Libroia; U Verga; Vittorio Colantuoni; Charles H C M Buys
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
The Journal of clinical endocrinology and metabolism 1997;82(12):4176-8.
1997: M Visser; Robert M W Hofstra; Rein P Stulp; Ying Wu; Charles H C M Buys; Rein Willemze; J E Landegent
Absence of mutations in the RET gene in acute myeloid leukemia.
Annals of hematology 1997;75(3):87-90.
1997: Robert M W Hofstra; Jan Osinga; Charles H C M Buys
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.
European journal of human genetics : EJHG 1997;5(4):180-5.
1997: Ying Wu; Minna Nyström-Lahti; Jan Osinga; M W G Looman; Päivi Peltomäki; Lauri A Aaltonen; Albert de La Chapelle; Robert M W Hofstra; Charles H C M Buys
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
Genes, chromosomes & cancer 1997;18(4):269-78.
1996: R M Landsvater; MJ de Wit; R A Zewald; Robert M W Hofstra; Charles H C M Buys; H K Ploos van Amstel; Jo W M Höppener; Cornelis J M Lips
Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers.
Cancer research 1996;56(21):4853-5.
1996: Robert M W Hofstra; T Stelwagen; Rein P Stulp; D de Jong; M Hulsbeek; E J Kamsteeg; Anke Van den Berg; R M Landsvater; A Vermey; W M Molenaar; Cornelis J M Lips; Charles H C M Buys
Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.
The Journal of clinical endocrinology and metabolism 1996;81(8):2881-4.
1996: Robert M W Hofstra; Rolf Sijmons; T Stelwagen; Rein P Stulp; B G Kousseff; Cornelis J M Lips; P M Steijlen; P C Van Voorst Vader; Charles H C M Buys
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.
The Journal of investigative dermatology 1996;107(2):215-8.
1996: Minna Nyström-Lahti; Y Wu; Anu-Liisa Moisio; Robert M W Hofstra; Jan Osinga; Jukka-Pekka Mecklin; Heikki J Järvinen; Jaakko Leisti; Charles H C M Buys; Albert de La Chapelle; Päivi Peltomäki
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
Human molecular genetics 1996;5(6):763-9.
1996: Robert M W Hofstra; Jan Osinga; G Tan-Sindhunata; Ying Wu; E J Kamsteeg; Rein P Stulp; Conny van Ravenswaaij-Arts; D Majoor-Krakauer; Misha Angrist; Aravinda Chakravarti; Carel Meijers; Charles H C M Buys
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):445-7.
1996: Robert M W Hofstra; N C Cheng; C Hansen; Rein P Stulp; T Stelwagen; N Clausen; Niels Tommerup; H Caron; Andries Westerveld; Rogier Versteeg; Charles H C M Buys
No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma.
Human genetics 1996;97(3):362-4.
1996: Y Wu; Robert M W Hofstra; Hans Scheffer; André G Uitterlinden; E Mullaart; Charles H C M Buys; Jan Vijg
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
Human mutation 1996;8(2):160-7.
1996: R M Landsvater; R P Jansen; Robert M W Hofstra; Charles H C M Buys; Cornelis J M Lips; H K Ploos van Amstel
Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.
Human genetics 1996;97(1):11-4.
1995: Barbara Pasini; Robert M W Hofstra; Luo Yin; Renata Bocciardi; G Santamaria; P M Grootscholten; Isabella Ceccherini; G Patrone; Manuela Priolo; Charles H C M Buys
The physical map of the human RET proto-oncogene.
Oncogene 1995;11(9):1737-43.
1995: Robert M W Hofstra; T Stelwagen; Barbara Pasini; Anneke Y van der Veen; B A Ponder; Y Nakamura; Giovanni Romeo; Charles H C M Buys
Ordering of markers in the pericentromeric region of chromosome 10.
Human genetics 1995;96(1):116-8.
1995: Misha Angrist; S Bolk; Bonnie A Thiel; Erik G Puffenberger; Robert M W Hofstra; Charles H C M Buys; D T Cass; Aravinda Chakravarti
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Human molecular genetics 1995;4(5):821-30.
1995: Isabella Ceccherini; Robert M W Hofstra; Y Luo; Rein P Stulp; V Barone; T Stelwagen; Renata Bocciardi; H Nijveen; Alessandra Bolino; Marco Seri
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
Oncogene 1995;10(6):1257.
1994: Isabella Ceccherini; Robert M W Hofstra; Y Luo; Rein P Stulp; V Barone; T Stelwagen; Renata Bocciardi; H Nijveen; Alessandra Bolino; Marco Seri
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
Oncogene 1994;9(10):3025-9.
1994: Robert M W Hofstra; R M Landsvater; Isabella Ceccherini; Rein P Stulp; T Stelwagen; Y Luo; Barbara Pasini; Jo W M Höppener; H K van Amstel; Giovanni Romeo
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
Nature 1994;367(6461):375-6.
1993: Isabella Ceccherini; Renata Bocciardi; Y Luo; Barbara Pasini; Robert M W Hofstra; M Takahashi; Giovanni Romeo
Exon structure and flanking intronic sequences of the human RET proto-oncogene.
Biochemical and biophysical research communications 1993;196(3):1288-95.
1993: Klaas Kok; Robert M W Hofstra; A Pilz; Anke Van den Berg; Peter Terpstra; Charles H C M Buys; B Carritt
A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(13):6071-5.
1992: B Carritt; Klaas Kok; Anke Van den Berg; Jan Osinga; A Pilz; Robert M W Hofstra; M B Davis; Anneke Y van der Veen; Pamela Rabbitts; K Gulati
A gene from human chromosome region 3p21 with reduced expression in small cell lung cancer.
Cancer research 1992;52(6):1536-41.