Robert Hofstra

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Ferreira Ana Monteiro; Westers Helga; Albergaria André; Seruca Raquel; Hofstra Robert M W
Estrogens, MSI and Lynch syndrome-associated tumors.
van Tintelen J Peter; Van Gelder Isabelle C; Asimaki Angeliki; Suurmeijer Albert J H; Wiesfeld Ans C P; Jongbloed Jan D H; van den Wijngaard Arthur; Kuks Jan B M; van Spaendonck-Zwarts Karin Y; Notermans Nicolette; Boven Ludolf; van den Heuvel Freek; Veenstra-Knol Hermine E; Saffitz Jeffrey E; Hofstra Robert M W; van den Berg Maarten P
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van den Akker Peter C; Hettema Wendy; Meijer Rowdy; Jonkman Marcel F; Hofstra Robert M W; Scheffer Hans
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.

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All Publications

2009: Ferreira Ana Monteiro; Westers Helga; Albergaria André; Seruca Raquel; Hofstra Robert M W
Estrogens, MSI and Lynch syndrome-associated tumors.
Biochimica et biophysica acta 2009;1796(2):194-200.
2009: van Tintelen J Peter; Van Gelder Isabelle C; Asimaki Angeliki; Suurmeijer Albert J H; Wiesfeld Ans C P; Jongbloed Jan D H; van den Wijngaard Arthur; Kuks Jan B M; van Spaendonck-Zwarts Karin Y; Notermans Nicolette; Boven Ludolf; van den Heuvel Freek; Veenstra-Knol Hermine E; Saffitz Jeffrey E; Hofstra Robert M W; van den Berg Maarten P
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: van den Akker Peter C; Hettema Wendy; Meijer Rowdy; Jonkman Marcel F; Hofstra Robert M W; Scheffer Hans
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: van den Akker Peter C; van Essen Anthonie J; Kraak Marian M J; Meijer Rowdy; Nijenhuis Miranda; Meijer Gonnie; Hofstra Robert M W; Pas Hendri H; Scheffer Hans; Jonkman Marcel F
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: van der Zwaag Paul A; Jongbloed Jan D H; van den Berg Maarten P; van der Smagt Jasper J; Jongbloed Roselie; Bikker Hennie; Hofstra Robert M W; van Tintelen J Peter
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Human mutation 2009;30(9):1278-83.
2009: Ferreira Ana M; Westers Helga; Sousa Sónia; Wu Ying; Niessen Renée C; Olderode-Berends Maran; van der Sluis Tineke; Reuvekamp Peter T W; Seruca Raquel; Kleibeuker Jan H; Hollema Harry; Sijmons Rolf H; Hofstra Robert M W
Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients.
The Journal of pathology 2009;219(1):96-102.
2009: Niessen Renée C; Hofstra Robert M W; Westers Helga; Ligtenberg Marjolijn J L; Kooi Krista; Jager Paul O J; de Groote Marloes L; Dijkhuizen Trijnie; Olderode-Berends Maran J W; Hollema Harry; Kleibeuker Jan H; Sijmons Rolf H
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
Genes, chromosomes & cancer 2009;48(8):737-44.
2009: Ferreira Ana M; Westers Helga; Wu Ying; Niessen Renée C; Olderode-Berends Maran; van der Sluis Tineke; van der Zee Ate G; Hollema Harry; Kleibeuker Jan H; Sijmons Rolf H; Hofstra Robert M W
Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
Genes, chromosomes & cancer 2009;48(7):552-7.
2009: Griseri Paola; Vos Yvonne; Giorda Roberto; Gimelli Stefania; Beri Silvana; Santamaria Giuseppe; Mognato Guendalina; Hofstra Robert M W; Gimelli Giorgio; Ceccherini Isabella
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: Ou Jianghua; Rasmussen Merete; Westers Helga; Andersen Sofie D; Jager Paul O; Kooi Krista A; Niessen Renée C; Eggen Bart J L; Nielsen Finn C; Kleibeuker Jan H; Sijmons Rolf H; Rasmussen Lene J; Hofstra Robert M W
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: Niessen Renée C; Kleibeuker Jan H; Westers Helga; Jager Paul O J; Rozeveld Dennie; Bos Krista K; Boersma-van Ek Wytske; Hollema Harry; Sijmons Rolf H; Hofstra Robert M W
PMS2 involvement in patients suspected of Lynch syndrome.
Genes, chromosomes & cancer 2009;48(4):322-9.
2009: Crijns Anne P G; Fehrmann Rudolf S N; de Jong Steven; Gerbens Frans; Meersma Gert Jan; Klip Harry G; Hollema Harry; Hofstra Robert M W; te Meerman Gerard J; de Vries Elisabeth G E; van der Zee Ate G J
Survival-related profile, pathways, and transcription factors in ovarian cancer.
PLoS medicine 2009;6(2):e24.
2009: Pinto Carla; Veiga Isabel; Pinheiro Manuela; Peixoto Ana; Pinto Armando; Lopes José M; Reis Rui M; Oliveira Carla; Baptista Manuela; Roque Lúcia; Regateiro Fernando; Cirnes Luís; Hofstra Robert M W; Seruca Raquel; Castedo Sérgio; Teixeira Manuel R
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
Familial cancer 2009;8(4):383-90.
2008: Hofstra Robert M W; Spurdle Amanda B; Eccles Diana; Foulkes William D; de Wind Niels; Hoogerbrugge Nicoline; Hogervorst Frans B L;
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.
Human mutation 2008;29(11):1292-303.
2008: Ou Jianghua; Niessen Renée C; Vonk Jan; Westers Helga; Hofstra Robert M W; Sijmons Rolf H
A database to support the interpretation of human mismatch repair gene variants.
Human mutation 2008;29(11):1337-41.
2008: Greenblatt Marc S; Brody Lawrence C; Foulkes William D; Genuardi Maurizio; Hofstra Robert M W; Olivier Magali; Plon Sharon E; Sijmons Rolf H; Sinilnikova Olga; Spurdle Amanda B;
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: van Ham Tjakko J; Thijssen Karen L; Breitling Rainer; Hofstra Robert M W; Plasterk Ronald H A; Nollen Ellen A A
C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging.
PLoS genetics 2008;4(3):e1000027.
2008: Pinto Mafalda; Wu Ying; Mensink Rob G J; Cirnes Luís; Seruca Raquel; Hofstra Robert M W
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: Amiel J; Sproat-Emison E; Garcia-Barcelo M; Lantieri F; Burzynski G; Borrego S; Pelet A; Arnold S; Miao X; Griseri P; Brooks A S; Antinolo G; de Pontual L; Clement-Ziza M; Munnich A; Kashuk C; West K; Wong K K-Y; Lyonnet S; Chakravarti A; Tam P K-H; Ceccherini I; Hofstra R M W; Fernandez R;
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008;45(1):1-14.
2008: Fehrmann Rudolf S N; de Jonge Hendrik J M; Ter Elst Arja; de Vries André; Crijns Anne G P; Weidenaar Alida C; Gerbens Frans; de Jong Steven; van der Zee Ate G J; de Vries Elisabeth G E; Kamps Willem A; Hofstra Robert M W; Te Meerman Gerard J; de Bont Eveline S J M
A new perspective on transcriptional system regulation (TSR): towards TSR profiling.
PloS one 2008;3(2):e1656.
2008: Zidan Jamal; Niessen Renée C; Laitman Yael; Rozeveld Dennie; Hofstra Robert M W; Friedman Eitan
A novel MSH2 germline mutation in a Druze HNPCC family.
Familial cancer 2008;7(2):135-9.
2007: van Tintelen J Peter; Hofstra Robert M W; Katerberg Hilga; Rossenbacker Tom; Wiesfeld Ans C P; du Marchie Sarvaas Gideon J; Wilde Arthur A M; van Langen Irene M; Nannenberg Eline A; van der Kooi Anneke J; Kraak Marian; van Gelder Isabelle C; van Veldhuisen Dirk Jan; Vos Yvonne; van den Berg Maarten P;
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: Crijns A P G; de Graeff P; Geerts D; Ten Hoor K A; Hollema H; van der Sluis T; Hofstra R M W; de Bock G H; de Jong S; van der Zee A G J; de Vries E G E
MEIS and PBX homeobox proteins in ovarian cancer.
European journal of cancer (Oxford, England : 1990) 2007;43(17):2495-505.
2007: Ou Jianghua; Niessen Renée C; Lützen Anne; Sijmons Rolf H; Kleibeuker Jan H; de Wind Niels; Rasmussen Lene Juel; Hofstra Robert M W
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
Human mutation 2007;28(11):1047-54.
2007: Plaza-Menacho Iván; Mologni Luca; Sala Elisa; Gambacorti-Passerini Carlo; Magee Anthony I; Links Thera P; Hofstra Robert M W; Barford David; Isacke Clare M
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: van Tintelen J Peter; Tio Rene A; Kerstjens-Frederikse Wilhelmina S; van Berlo Jop H; Boven Ludolf G; Suurmeijer Albert J H; White Stefan J; den Dunnen Johan T; te Meerman Gerard J; Vos Yvonne J; van der Hout Annemarie H; Osinga Jan; van den Berg Maarten P; van Veldhuisen Dirk J; Buys Charles H C M; Hofstra Robert M W; Pinto Yigal M
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: Niessen Renée C; Kleibeuker Jan H; Jager Paul O J; Sijmons Rolf H; Hofstra Robert M W
Getting rid of the PMS2 pseudogenes: mission impossible?
Human mutation 2007;28(4):414; author reply 415.
2007: Plaza-Menacho Iván; van der Sluis Tineke; Hollema Harry; Gimm Oliver; Buys Charles H C M; Magee Anthony I; Isacke Clare M; Hofstra Robert M W; Eggen Bart J L
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: Davalos V; Dopeso H; Velho S; Ferreira A M; Cirnes L; Díaz-Chico N; Bilbao C; Ramírez R; Rodríguez G; Falcón O; León L; Niessen R C; Keller G; Dallenbach-Hellweg G; Espín E; Armengol M; Plaja A; Perucho M; Imai K; Yamamoto H; Gebert J F; Díaz-Chico J C; Hofstra R M; Woerner S M; Seruca R; Schwartz S; Arango D
High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.
Oncogene 2007;26(2):308-11.
2007: de Jonge Hendrik J M; Fehrmann Rudolf S N; de Bont Eveline S J M; Hofstra Robert M W; Gerbens Frans; Kamps Willem A; de Vries Elisabeth G E; van der Zee Ate G J; te Meerman Gerard J; ter Elst Arja
Evidence based selection of housekeeping genes.
PloS one 2007;2(9):e898.
2006: Niessen R C; Berends M J W; Wu Y; Sijmons R H; Hollema H; Ligtenberg M J L; de Walle H E K; de Vries E G E; Karrenbeld A; Buys C H C M; van der Zee A G J; Hofstra R M W; Kleibeuker J H
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: Plaza-Menacho Ivan; Burzynski Grzegorz M; de Groot Jan Willem; Eggen Bart J L; Hofstra Robert M W
Current concepts in RET-related genetics, signaling and therapeutics.
Trends in genetics : TIG 2006;22(11):627-36.
2006: de Groot Jan Willem B; Links Thera P; Plukker John T M; Lips Cornelis J M; Hofstra Robert M W
RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.
Endocrine reviews 2006;27(5):535-60.
2006: Brooks A S; Leegwater P A; Burzynski G M; Willems P J; de Graaf B; van Langen I; Heutink P; Oostra B A; Hofstra R M W; Bertoli-Avella A M
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Journal of medical genetics 2006;43(7):e35.
2006: van der Hout Annemarie H; van den Ouweland Ans M W; van der Luijt Rob B; Gille Hans J P; Bodmer Daniëlle; Brüggenwirth Hennie; Mulder Inge M; van der Vlies Pieter; Elfferich Peter; Huisman Maarten T; ten Berge Annelies M; Kromosoeto Joan; Jansen Rumo P M; van Zon Patrick H A; Vriesman Thyrsa; Arts Neeltje; Lange Majella Boutmy-de; Oosterwijk Jan C; Meijers-Heijboer Hanne; Ausems Margreet G E M; Hoogerbrugge Nicoline; Verhoef Senno; Halley Dicky J J; Vos Yvonne J; Hogervorst Frans; Ligtenberg Marjolijn; Hofstra Robert M W
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: de Groot J W B; Plaza Menacho I; Schepers H; Drenth-Diephuis L J; Osinga J; Plukker J Th M; Links Th P; Eggen B J L; Hofstra R M W
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: van Tintelen J Peter; Entius Mark M; Bhuiyan Zahurul A; Jongbloed Roselie; Wiesfeld Ans C P; Wilde Arthur A M; van der Smagt Jasper; Boven Ludolf G; Mannens Marcel M A M; van Langen Irene M; Hofstra Robert M W; Otterspoor Luuk C; Doevendans Pieter A F M; Rodriguez Luz-Maria; van Gelder Isabelle C; Hauer Richard N W
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Circulation 2006;113(13):1650-8.
2006: Niessen Renée C; Sijmons Rolf H; Ou J; Olthof Sandra G M; Osinga Jan; Ligtenberg Marjolijn J; Hogervorst Frans B L; Weiss Marjan M; Tops Carli M J; Hes Frederik J; de Bock Geertruida H; Buys Charles H C M; Kleibeuker Jan H; Hofstra Robert M W
MUTYH and the mismatch repair system: partners in crime?
Human genetics 2006;119(1-2):206-11.
2006: de Groot J W B; Links T P; Rouwe C W; van der Wal J E; Hofstra R M W; Plukker J T M
[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: Crijns Anne P G; Gerbens Frans; Plantinga A Edo D; Meersma Gert Jan; de Jong Steven; Hofstra Robert M W; de Vries Elisabeth G E; van der Zee Ate G J; de Bock Geertruida H; te Meerman Gerard J
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: Oliveira Carla; Velho Sérgia; Domingo Enric; Preto Ana; Hofstra Robert M W; Hamelin Richard; Yamamoto Hiroyuki; Seruca Raquel; Schwartz Simo
Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer.
Oncogene 2005;24(51):7630-4.
2005: Westra J L; Hollema H; Schaapveld M; Platteel I; Oien K A; Keith W N; Mauritz R; Peters G J; Buys C H C M; Hofstra R M W; Plukker J Th M
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: Westra Jantine L; Schaapveld Michael; Hollema Harry; de Boer Jelle P; Kraak Marian M J; de Jong Debora; ter Elst Arja; Mulder Nanno H; Buys Charles H C M; Hofstra Robert M W; Plukker John T M
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: de Jong Mirjam M; Nolte Ilja M; Te Meerman Gerard J; van der Graaf Winette T A; Mulder Marcel J; van der Steege Gerrit; Bruinenberg Marcel; Schaapveld Michael; Niessen Renée C; Berends Maran J W; Sijmons Rolf H; Hofstra Robert M W; de Vries Elisabeth G E; Kleibeuker Jan H
Colorectal cancer and the CHEK2 1100delC mutation.
Genes, chromosomes & cancer 2005;43(4):377-82.
2005: Brooks Alice S; Bertoli-Avella Aida M; Burzynski Grzegorz M; Breedveld Guido J; Osinga Jan; Boven Ludolf G; Hurst Jane A; Mancini Grazia M S; Lequin Maarten H; de Coo Rene F; Matera Ivana; de Graaff Esther; Meijers Carel; Willems Patrick J; Tibboel Dick; Oostra Ben A; Hofstra Robert M W
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: Domingo Enric; Niessen Renée C; Oliveira Carla; Alhopuro Pia; Moutinho Catia; Espín Eloi; Armengol Manel; Sijmons Rolf H; Kleibeuker Jan H; Seruca Raquel; Aaltonen Lauri A; Imai Kohzoh; Yamamoto Hiroyuki; Schwartz Simó; Hofstra Robert M W
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: Westra Jantine L; Boven Ludolf G; van der Vlies Pieter; Faber Hendrika; Sikkema Birgit; Schaapveld Michael; Dijkhuizen Trijnie; Hollema Harry; Buys Charles H C M; Plukker John T M; Kok Klaas; Hofstra Robert M W
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: Burzynski Grzegorz M; Nolte Ilja M; Bronda Agnes; Bos Krista K; Osinga Jan; Plaza Menacho Ivan; Twigt Bas; Maas Saskia; Brooks Alice S; Verheij Joke B G M; Buys Charles H C M; Hofstra Robert M W
Identifying candidate Hirschsprung disease-associated RET variants.
American journal of human genetics 2005;76(5):850-8.
2005: Plaza Menacho Ivan; Koster Roelof; van der Sloot Almer M; Quax Wim J; Osinga Jan; van der Sluis Tineke; Hollema Harry; Burzynski Grzegorz M; Gimm Oliver; Buys Charles H C M; Eggen Bart J L; Hofstra Robert M W
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: de Jong Mirjam M; Niens Marijke; Nolte Ilja M; te Meerman Gerard J; van der Graaf Winette T A; Mulder Marcel J; van der Steege Gerrit; Bruinenberg Marcel; Schaapveld Michael; Sijmons Rolf H; Hofstra Robert M W; de Vries Elisabeth G E; Kleibeuker Jan H
The human leukocyte antigen region and colorectal cancer risk.
Diseases of the colon and rectum 2005;48(2):303-6.
2005: de Groot Jan Willem B; Sijmons Rolf H; Links Thera P; Plukker John Tn M; Hofstra Robert M W
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: Brooks A S; Oostra B A; Hofstra R M W
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
Clinical genetics 2005;67(1):6-14.
2004: de Jong M M; te Meerman G J; van der Graaf W T A; de Vries E G E; Nolte I M; Mulder M J; Bruinenberg M; van der Steege G; Schaapveld M; Sijmons R H; Hofstra R M W; Kleibeuker J H
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: Schuurs Theo A; Gerbens Frans; van der Hoeven Joost A B; Ottens Petra J; Kooi Krista A; Leuvenink Henri G D; Hofstra Robert M W; Ploeg Rutger J
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: Oliveira Carla; Westra Jantine L; Arango Diego; Ollikainen Miina; Domingo Enric; Ferreira Ana; Velho Sérgia; Niessen Renee; Lagerstedt Kristina; Alhopuro Pia; Laiho Paivi; Veiga Isabel; Teixeira Manuel R; Ligtenberg Marjolijn; Kleibeuker Jan H; Sijmons Rolf H; Plukker John T; Imai Kohzoh; Lage Pedro; Hamelin Richard; Albuquerque Cristina; Schwartz Simo; Lindblom Annika; Peltomaki Päivi; Yamamoto Hiroyuki; Aaltonen Lauri A; Seruca Raquel; Hofstra Robert M W
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: Domingo E; Laiho P; Ollikainen M; Pinto M; Wang L; French A J; Westra J; Frebourg T; Espín E; Armengol M; Hamelin R; Yamamoto H; Hofstra R M W; Seruca R; Lindblom A; Peltomäki P; Thibodeau S N; Aaltonen L A; Schwartz S
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
Journal of medical genetics 2004;41(9):664-8.
2004: Burzynski Grzegorz M; Nolte Ilja M; Osinga Jan; Ceccherini Isabella; Twigt Bas; Maas Saskia; Brooks Alice; Verheij Joke; Plaza Menacho Ivan; Buys Charles H C M; Hofstra Robert M W
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: de Jong Mirjam M; Hofstra Robert M W; Kooi Krista A; Westra Jantine L; Berends Maran J W; Wu Ying; Hollema Harry; van der Sluis Tineke; van der Graaf Winette T A; de Vries Elisabeth G E; Schaapveld Michael; Sijmons Rolf H; te Meerman Gerard J; Kleibeuker Jan H
No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.
Cancer genetics and cytogenetics 2004;152(1):70-1.
2004: Plaza Menacho Ivan; de Groot Jan Willem; Links Thera; Plukker John; Eggen Bart J L; Hofstra Robert
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: Hofstra Robert M W; Mulder Inge M; Vossen Rolf; de Koning-Gans Pia A M; Kraak Marian; Ginjaar Ieke B; van der Hout Annemarie H; Bakker Egbert; Buys Charles H C M; van Ommen Gert-Jan B; van Essen Anthonie J; den Dunnen Johan T
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Human mutation 2004;23(1):57-66.
2004: Niessen R C; Sijmons R H; Berends M J W; Ou J; Hofstra R M W; Kleibeuker J H
Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.
Scandinavian journal of gastroenterology. Supplement 2004;(241):70-7.
2003: Berends Maran J W; Wu Ying; Sijmons Rolf H; van der Sluis Tineke; Ek Wietske Boersmavan; Ligtenberg Marjolijn J L; Arts Neeltje J W; ten Hoor Klaske A; Kleibeuker Jan H; de Vries Elisabeth G E; Mourits Marian J E; Hollema Harry; Buys Charles H C M; Hofstra Robert M W; van der Zee Ate G J
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: Pinto Mafalda; Wu Ying; Suriano Gianpaolo; Mensink Rob G J; Duval Alex; Oliveira Carla; Carvalho Beatriz; Hamelin Richard; Seruca Raquel; Hofstra Robert M W
MBD4 mutations are rare in gastric carcinomas with microsatellite instability.
Cancer genetics and cytogenetics 2003;145(2):103-7.
2003: Komdeur Rudy; Hoekstra Harald J; Molenaar Willemina M; Van Den Berg Eva; Zwart Nynke; Pras Elisabeth; Plaza-Menacho Iwan; Hofstra Robert M W; Van Der Graaf Winette T A
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: Kahraman T; de Groot J W B; Rouwe C; Hofstra R M W; Links Th P; Sijmons R H; Plukker J Th M
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: van Essen Anthonie J; Mulder Inge M; van der Vlies Pieter; van der Hout Annemarie H; Buys Charles H C M; Hofstra Robert M W; den Dunnen Johan T
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: Kariola Reetta; Otway Robyn; Lönnqvist Karin E; Raevaara Tiina E; Macrae Finlay; Vos Yvonne J; Kohonen-Corish Maija; Hofstra Robert M W; Nyström-Lahti Minna
Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?
Human genetics 2003;112(2):105-9.
2002: de Jong Mirjam M; Nolte Ilja M; te Meerman Gerard J; van der Graaf Winette T A; de Vries Elisabeth G E; Sijmons Rolf H; Hofstra Robert M W; Kleibeuker Jan H
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: Kroes H Y; Takahashi M; Zijlstra R J; Baert J A L L; Kooi K A; Hofstra R M W; van Essen A J
Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
American journal of medical genetics 2002;112(4):390-3.
2002: Raevaara T E; Timoharju T; Lönnqvist K E; Kariola R; Steinhoff M; Hofstra R M W; Mangold E; Vos Y J; Nyström-Lahti M
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: Griseri Paola; Pesce Barbara; Patrone Giovanna; Osinga Jan; Puppo Francesca; Sancandi Monica; Hofstra Robert; Romeo Giovanni; Ravazzolo Roberto; Devoto Marcella; Ceccherini Isabella
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: Van Der Hout Annemarie H; Verlind Edwin; Beemer Frits A; Buys Charles H C M; Hofstra Robert M W; Scheffer Hans
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: Hofstra R M W; Elfferich P; Osinga J; Verlind E; Fransen E; López Pisón J; de Die-Smulders C E M; Stolte-Dijkstra I; Buys C H C M
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
Journal of medical genetics 2002;39(3):E11.
2002: Verheij Joke B G M; Kunze Jürgen; Osinga Jan; van Essen Anthonie J; Hofstra Robert M W
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
American journal of medical genetics 2002;108(3):223-5.
2002: Parisi Melissa A; Kapur Raj P; Neilson Ian; Hofstra Robert M W; Holloway Lynda W; Michaelis Ron C; Leppig Kathleen A
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
American journal of medical genetics 2002;108(1):51-6.
2002: Berends Maran J W; Wu Ying; Sijmons Rolf H; Mensink Rob G J; van der Sluis Tineke; Hordijk-Hos Jannet M; de Vries Elisabeth G E; Hollema Harry; Karrenbeld Arend; Buys Charles H C M; van der Zee Ate G J; Hofstra Robert M W; Kleibeuker Jan H
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: Boon M; Nolte I M; Bruinenberg M; Spijker G T; Terpstra P; Raelson J; De Keyser J; Zwanikken C P; Hulsbeek M; Hofstra R M; Buys C H; te Meerman G J
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: Wu Y; Berends M J; Sijmons R H; Mensink R G; Verlind E; Kooi K A; van der Sluis T; Kempinga C; van dDer Zee A G; Hollema H; Buys C H; Kleibeuker J H; Hofstra R M
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
Nature genetics 2001;29(2):137-8.
2001: Wu Y; Berends M J; Post J G; Mensink R G; Verlind E; Van Der Sluis T; Kempinga C; Sijmons R H; van der Zee A G; Hollema H; Kleibeuker J H; Buys C H; Hofstra R M
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
Gastroenterology 2001;120(7):1580-7.
2001: Wagner A; Hendriks Y; Meijers-Heijboer E J; de Leeuw W J; Morreau H; Hofstra R; Tops C; Bik E; Bröcker-Vriends A H; van Der Meer C; Lindhout D; Vasen H F; Breuning M H; Cornelisse C J; van Krimpen C; Niermeijer M F; Zwinderman A H; Wijnen J; Fodde R
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.
Journal of medical genetics 2001;38(5):318-22.
2001: Berends M J; Hollema H; Wu Y; van Der Sluis T; Mensink R G; ten Hoor K A; Sijmons R H; de Vries E G; Pras E; Mourits M J; Hofstra R M; Buys C H; Kleibeuker J H; van Der Zee A G
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: Bleeker W A; Hayes V M; Karrenbeld A; Hofstra R M; Verlind E; Hermans J; Poppema S; Buys C H; Plukker J T
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: Berends M J; Wu Y; Sijmons R H; Hofstra R M; van der Zee A G; Buys C H; Kleibeuker J H
Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible?
Scandinavian journal of gastroenterology. Supplement 2001;(234):61-7.
2000: Berends M J; Cats A; Hollema H; Karrenbeld A; Beentjes J A; Sijmons R H; Mensink R G; Hofstra R M; Verschueren R C; Kleibeuker J H
Adrenocortical adenocarcinoma in an MSH2 carrier: coincidence or causal relation?
Human pathology 2000;31(12):1522-7.
2000: Pinto M; Oliveira C; Machado J C; Cirnes L; Tavares J; Carneiro F; Hamelin R; Hofstra R; Seruca R; Sobrinho-Simões M
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: Shiri-Sverdlov R; Oefner P; Green L; Baruch R G; Wagner T; Kruglikova A; Haitchick S; Hofstra R M; Papa M Z; Mulder I; Rizel S; Bar Sade R B; Dagan E; Abdeen Z; Goldman B; Friedman E
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: Sijmons R; Hofstra R; Hollema H; Mensink R; van der Hout A; Hoekstra H; Kleibeuker J; Molenaar W; Wijnen J; Fodde R; Vasen H; Buys C
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: Hayes V M; Westra J L; Verlind E; Bleeker W; Plukker J T; Hofstra R M; Buys C H
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: Bleeker W A; Hayes V M; Karrenbeld A; Hofstra R M; Hermans J; Buys C C; Plukker J T
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: Griseri P; Sancandi M; Patrone G; Bocciardi R; Hofstra R; Ravazzolo R; Devoto M; Romeo G; Ceccherini I
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: Sztriha L; Frossard P; Hofstra R M; Verlind E; Nork M
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: Sancandi M; Ceccherini I; Costa M; Fava M; Chen B; Wu Y; Hofstra R; Laurie T; Griffths M; Burge D; Tam P K
Incidence of RET mutations in patients with Hirschsprung's disease.
Journal of pediatric surgery 2000;35(1):139-42; discussion 142-3.
2000: Hofstra R M; Wu Y; Stulp R P; Elfferich P; Osinga J; Maas S M; Siderius L; Brooks A S; vd Ende J J; Heydendael V M; Severijnen R S; Bax K M; Meijers C; Buys C H
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Human mutation 2000;15(5):418-29.
1999: Wu Y; Berends M J; Mensink R G; Kempinga C; Sijmons R H; van Der Zee A G; Hollema H; Kleibeuker J H; Buys C H; Hofstra R M
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: Hordijk R; Wierenga H; Scheffer H; Leegte B; Hofstra R M; Stolte-Dijkstra I
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
Journal of medical genetics 1999;36(10):782-5.
1999: Wijnen J; de Leeuw W; Vasen H; van der Klift H; Møller P; Stormorken A; Meijers-Heijboer H; Lindhout D; Menko F; Vossen S; Möslein G; Tops C; Bröcker-Vriends A; Wu Y; Hofstra R; Sijmons R; Cornelisse C; Morreau H; Fodde R
Familial endometrial cancer in female carriers of MSH6 germline mutations.
Nature genetics 1999;23(2):142-4.
1999: Hayes V M; Wu Y; Osinga J; Mulder I M; van der Vlies P; Elfferich P; Buys C H; Hofstra R M
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: Verheij J B; Bouman K; van Lingen R A; van Lookeren Campagne J G; Leegte B; van der Veen A Y; Hofstra R M; Buys C H; van Essen A J
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
American journal of medical genetics 1999;86(2):168-73.
1999: Wu Y; Stulp R P; Elfferich P; Osinga J; Buys C H; Hofstra R M
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.
Nucleic acids research 1999;27(15):e9.
1999: Hayes V M; Dirven C M; Dam A; Verlind E; Molenaar W M; Mooij J J; Hofstra R M; Buys C H
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: Wadey R; McKie J; Papapetrou C; Sutherland H; Lohman F; Osinga J; Frohn I; Hofstra R; Meijers C; Amati F; Conti E; Pizzuti A; Dallapiccola B; Novelli G; Scambler P
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: Brooks A S; Breuning M H; Osinga J; vd Smagt J J; Catsman C E; Buys C H; Meijers C; Hofstra R M
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).
Journal of medical genetics 1999;36(6):485-9.
1999: Maas S M; Brooks A S; Hennekam R C; Heydendael V M; Wijburg F A; Hofstra R M
[Genes and genetics in Hirschsprung's disease]
Nederlands tijdschrift voor geneeskunde 1999;143(26):1352-6.
1999: Hayes V M; Bleeker W; Verlind E; Timmer T; Karrenbeld A; Plukker J T; Marx M P; Hofstra R M; Buys C H
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: Kerstjens-Frederikse W S; Hofstra R M; van Essen A J; Meijers J H; Buys C H
A Hirschsprung disease locus at 22q11?
Journal of medical genetics 1999;36(3):221-4.
1999: Hofstra R M; Valdenaire O; Arch E; Osinga J; Kroes H; Löffler B M; Hamosh A; Meijers C; Buys C H
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.
1999: Verheij J B; Wildhagen M F; Hofstra R M; Pals G; Habbema J D; ten Kate L P
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.
1998: Wu Y; Hayes V M; Osinga J; Mulder I M; Looman M W; Buys C H; Hofstra R M
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis.
Nucleic acids research 1998;26(23):5432-40.
1998: Hayes V M; Hofstra R M; Buys C H; Hollema H; van der Zee A G
Homozygous arginine-72 in wild type p53 and risk of cervical cancer.
Lancet 1998;352(9142):1756.
1998: Sijmons R H; Hofstra R M; Wijburg F A; Links T P; Zwierstra R P; Vermey A; Aronson D C; Tan-Sindhunata G; Brouwers-Smalbraak G J; Maas S M; Buys C H
Oncological implications of RET gene mutations in Hirschsprung's disease.
Gut 1998;43(4):542-7.
1998: de Krijger R R; Brooks A; van der Harst E; Hofstra R M; Bruining H A; Molenaar J C; Meijers C
Constipation as the presenting symptom in de novo multiple endocrine neoplasia type 2B.
Pediatrics 1998;102(2 Pt 1):405-8.
1998: Scheffer H; Brunt E R; Mol G J; van der Vlies P; Stulp R P; Verlind E; Mantel G; Averyanov Y N; Hofstra R M; Buys C H
Three novel KCNA1 mutations in episodic ataxia type I families.
Human genetics 1998;102(4):464-6.
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.
1997: Hofstra R M; Fattoruso O; Quadro L; Wu Y; Libroia A; Verga U; Colantuoni V; Buys C H
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: Visser M; Hofstra R M; Stulp R P; Wu Y; Buys C H; Willemze R; Landegent J E
Absence of mutations in the RET gene in acute myeloid leukemia.
Annals of hematology 1997;75(3):87-90.
1997: Hofstra R M; Osinga J; Buys C H
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.
European journal of human genetics : EJHG 1997;5(4):180-5.
1997: Wu Y; Nyström-Lahti M; Osinga J; Looman M W; Peltomäki P; Aaltonen L A; de la Chapelle A; Hofstra R M; Buys C H
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: Landsvater R M; de Wit M J; Zewald R A; Hofstra R M; Buys C H; Ploos van Amstel H K; Höppener J W; Lips C J
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: Hofstra R M; Stelwagen T; Stulp R P; de Jong D; Hulsbeek M; Kamsteeg E J; van den Berg A; Landsvater R M; Vermey A; Molenaar W M; Lips C J; Buys C H
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: Hofstra R M; Sijmons R H; Stelwagen T; Stulp R P; Kousseff B G; Lips C J; Steijlen P M; Van Voorst Vader P C; Buys C H
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: Nyström-Lahti M; Wu Y; Moisio A L; Hofstra R M; Osinga J; Mecklin J P; Järvinen H J; Leisti J; Buys C H; de la Chapelle A; Peltomäki P
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: Hofstra R M; Osinga J; Tan-Sindhunata G; Wu Y; Kamsteeg E J; Stulp R P; van Ravenswaaij-Arts C; Majoor-Krakauer D; Angrist M; Chakravarti A; Meijers C; Buys C H
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: Hofstra R M; Cheng N C; Hansen C; Stulp R P; Stelwagen T; Clausen N; Tommerup N; Caron H; Westerveld A; Versteeg R; Buys C H
No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma.
Human genetics 1996;97(3):362-4.
1996: Landsvater R M; Jansen R P; Hofstra R M; Buys C H; Lips C J; Ploos van Amstel H K
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.
1996: Wu Y; Hofstra R M; Scheffer H; Uitterlinden A G; Mullaart E; Buys C H; Vijg J
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
Human mutation 1996;8(2):160-7.
1995: Pasini B; Hofstra R M; Yin L; Bocciardi R; Santamaria G; Grootscholten P M; Ceccherini I; Patrone G; Priolo M; Buys C H
The physical map of the human RET proto-oncogene.
Oncogene 1995;11(9):1737-43.
1995: Hofstra R M; Stelwagen T; Pasini B; van der Veen A Y; Ponder B A; Nakamura Y; Romeo G; Buys C H
Ordering of markers in the pericentromeric region of chromosome 10.
Human genetics 1995;96(1):116-8.
1995: Angrist M; Bolk S; Thiel B; Puffenberger E G; Hofstra R M; Buys C H; Cass D T; Chakravarti A
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Human molecular genetics 1995;4(5):821-30.
1995: Ceccherini I; Hofstra R M; Luo Y; Stulp R P; Barone V; Stelwagen T; Bocciardi R; Nijveen H; Bolino A; Seri M
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
Oncogene 1995;10(6):1257.
1994: Ceccherini I; Hofstra R M; Luo Y; Stulp R P; Barone V; Stelwagen T; Bocciardi R; Nijveen H; Bolino A; Seri M
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
Oncogene 1994;9(10):3025-9.
1994: Hofstra R M; Landsvater R M; Ceccherini I; Stulp R P; Stelwagen T; Luo Y; Pasini B; Höppener J W; van Amstel H K; Romeo G
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: Ceccherini I; Bocciardi R; Luo Y; Pasini B; Hofstra R; Takahashi M; Romeo G
Exon structure and flanking intronic sequences of the human RET proto-oncogene.
Biochemical and biophysical research communications 1993;196(3):1288-95.
1993: Kok K; Hofstra R; Pilz A; van den Berg A; Terpstra P; Buys C H; Carritt B
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: Carritt B; Kok K; van den Berg A; Osinga J; Pilz A; Hofstra R M; Davis M B; van der Veen A Y; Rabbitts P H; Gulati K
A gene from human chromosome region 3p21 with reduced expression in small cell lung cancer.
Cancer research 1992;52(6):1536-41.

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