Please enable Javascript

Labmeeting uses lots of Javascript - basically you can't use the site without it. So please enable Javascript in your browser. If your browser does not support Javascript, we recommend Firefox.

Papers authored by Hofstra RM

Collect these papers and discover other ones on Labmeeting. Learn more.

Estrogens, MSI and Lynch syndrome-associated tumors.

+ cite this

+ View Abstract

Ferreira AM, Westers H, Albergaria A, Seruca R, and Hofstra RM

Biochimica et biophysica acta 1796(2):194-200, 2009 Dec - Who cited this? | PubMed ID: 19559756 | Fulltext

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

+ cite this

+ View Abstract

van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, and van den Berg MP

Heart rhythm : the official journal of the Heart Rhythm Society 6(11):1574-83, 2009 Nov - Who cited this? | PubMed ID: 19879535 | Fulltext

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

+ cite this

+ View Abstract

van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, and Jonkman MF

Journal of dermatological science 56(1):9-18, 2009 Oct - Who cited this? | PubMed ID: 19665875 | Fulltext

Design and Validation of a Conformation-Sensitive Capillary Electrophoresis System for Mutation Identification of the COL7A1 Gene with Automated Peak Comparison.

+ cite this

+ View Abstract

van den Akker PC, Hettema W, Meijer R, Jonkman MF, Hofstra RM, and Scheffer H

Genetic testing and molecular biomarkers 13(5):589-97, 2009 Oct - Who cited this? | PubMed ID: 19814614 | Fulltext

Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients.

+ cite this

+ View Abstract

Ferreira AM, Westers H, Sousa S, Wu Y, Niessen RC, Olderode-Berends M, van der Sluis T, Reuvekamp PT, Seruca R, Kleibeuker JH, Hollema H, Sijmons RH, and Hofstra RM

The Journal of pathology 219(1):96-102, 2009 Sep - Who cited this? | PubMed ID: 19521971 | Fulltext

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

+ cite this

+ View Abstract

van der Zwaag PA, Jongbloed JD, van den Berg MP, van der Smagt JJ, Jongbloed R, Bikker H, Hofstra RM, and van Tintelen JP

Human mutation 30(9):1278-83, 2009 Sep - Who cited this? | PubMed ID: 19569224 | Fulltext

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

+ cite this

+ View Abstract

Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, and Sijmons RH

Genes, chromosomes & cancer 48(8):737-44, 2009 Aug - Who cited this? | PubMed ID: 19455606 | Fulltext

Do microsatellite instability profiles really differ between colorectal and endometrial tumors?.

+ cite this

+ View Abstract

Ferreira AM, Westers H, Wu Y, Niessen RC, Olderode-Berends M, van der Sluis T, van der Zee AG, Hollema H, Kleibeuker JH, Sijmons RH, and Hofstra RM

Genes, chromosomes & cancer 48(7):552-7, 2009 Jul - Who cited this? | PubMed ID: 19373783 | Fulltext

Medullary thyroid carcinoma and biomarkers: past, present and future.

+ cite this

+ View Abstract

van Veelen W, de Groot JW, Acton DS, Hofstra RM, Höppener JW, Links TP, and Lips CJ

Journal of internal medicine 266(1):126-40, 2009 Jul - Who cited this? | PubMed ID: 19522831 | Fulltext

PMS2 involvement in patients suspected of Lynch syndrome.

+ cite this

+ View Abstract

Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, and Hofstra RM

Genes, chromosomes & cancer 48(4):322-9, 2009 Apr - Who cited this? | PubMed ID: 19132747 | Fulltext

Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.

+ cite this

+ View Abstract

Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, Niessen RC, Eggen BJ, Nielsen FC, Kleibeuker JH, Sijmons RH, Rasmussen LJ, and Hofstra RM

Genes, chromosomes & cancer 48(4):340-50, 2009 Apr - Who cited this? | PubMed ID: 19156873 | Fulltext

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

+ cite this

+ View Abstract

Griseri P, Vos Y, Giorda R, Gimelli S, Beri S, Santamaria G, Mognato G, Hofstra RM, Gimelli G, and Ceccherini I

European journal of human genetics : EJHG 17(4):483-90, 2009 Apr - Who cited this? | PubMed ID: 19300444 | Fulltext

Survival-related profile, pathways, and transcription factors in ovarian cancer.

+ cite this

+ View Abstract

Crijns AP, Fehrmann RS, de Jong S, Gerbens F, Meersma GJ, Klip HG, Hollema H, Hofstra RM, Meerman GJ, de Vries EG, and van der Zee AG

PLoS medicine 6(2):e24, 2009 Feb 3 - Who cited this? | PubMed ID: 19192944 | Fulltext

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

+ cite this

+ View Abstract

Pinto C, Veiga I, Pinheiro M, Peixoto A, Pinto A, Lopes JM, Reis RM, Oliveira C, Baptista M, Roque L, Regateiro F, Cirnes L, Hofstra RM, Seruca R, Castedo S, and Teixeira MR

Familial cancer 8(4):383-90, 2009 - Who cited this? | PubMed ID: 19468865 | Fulltext

A database to support the interpretation of human mismatch repair gene variants.

+ cite this

+ View Abstract

Ou J, Niessen RC, Vonk J, Westers H, Hofstra RM, and Sijmons RH

Human mutation 29(11):1337-41, 2008 Nov - Who cited this? | PubMed ID: 18951442 | Fulltext

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

+ cite this

+ View Abstract

Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB, and IARC Unclassified Genetic Variants Working Group

Human mutation 29(11):1273-81, 2008 Nov - Who cited this? | PubMed ID: 18951438 | Fulltext

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

+ cite this

+ View Abstract

Hofstra RM, Spurdle AB, Eccles D, Foulkes WD, de Wind N, Hoogerbrugge N, Hogervorst FB, and IARC Unclassified Genetic Variants Working Group

Human mutation 29(11):1292-303, 2008 Nov - Who cited this? | PubMed ID: 18951447 | Fulltext

C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging.

+ cite this

+ View Abstract

van Ham TJ, Thijssen KL, Breitling R, Hofstra RM, Plasterk RH, and Nollen EA

PLoS genetics 4(3), 2008 Mar - Who cited this? | PubMed ID: 18369446 | Fulltext

Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype.

+ cite this

+ View Abstract

Pinto M, Wu Y, Mensink RG, Cirnes L, Seruca R, and Hofstra RM

Cancer genetics and cytogenetics 180(2):110-4, 2008 Jan 15 - Who cited this? | PubMed ID: 18206535 | Fulltext

Hirschsprung disease, associated syndromes and genetics: a review.

+ cite this

+ View Abstract

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C,

(show remaining authors)

Journal of medical genetics 45(1):1, 2008 Jan - Who cited this? | PubMed ID: 17965226 | Fulltext

A New Perspective on Transcriptional System Regulation (TSR): Towards TSR Profiling.

+ cite this

+ View Abstract

Fehrmann RS, de Jonge HJ, Ter Elst A, de Vries A, Crijns AG, Weidenaar AC, Gerbens F, de Jong S, van der Zee AG, de Vries EG, Kamps WA, Hofstra RM, Te Meerman GJ, and de Bont ES

PLoS ONE 3(2):e1656, 2008 - Who cited this? | PubMed ID: 18297136 | Fulltext

A novel MSH2 germline mutation in a Druze HNPCC family.

+ cite this

+ View Abstract

Zidan J, Niessen RC, Laitman Y, Rozeveld D, Hofstra RM, and Friedman E

Familial cancer 7(2):135-9, 2008 - Who cited this? | PubMed ID: 17661183 | Fulltext

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

+ cite this

+ View Abstract

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP, and

American heart journal 154(6):1130, 2007 Dec - Who cited this? | PubMed ID: 18035086 | Fulltext

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

+ cite this

+ View Abstract

Ou J, Niessen RC, Lützen A, Sijmons RH, Kleibeuker JH, de Wind N, Rasmussen LJ, and Hofstra RM

Human mutation 28(11):1047-54, 2007 Nov - Who cited this? | PubMed ID: 17594722 | Fulltext

MEIS and PBX homeobox proteins in ovarian cancer.

+ cite this

+ View Abstract

Crijns AP, de Graeff P, Geerts D, Ten Hoor KA, Hollema H, van der Sluis T, Hofstra RM, de Bock GH, de Jong S, van der Zee AG, and de Vries EG

European journal of cancer (Oxford, England : 1990) 43(17):2495-505, 2007 Nov - Who cited this? | PubMed ID: 17949970 | Fulltext

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.

+ cite this

+ View Abstract

Plaza-Menacho I, Mologni L, Sala E, Gambacorti-Passerini C, Magee AI, Links TP, Hofstra RM, Barford D, and Isacke CM

The Journal of biological chemistry 282(40):29230-40, 2007 Oct 5 - Who cited this? | PubMed ID: 17664273 | Fulltext

Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.

+ cite this

+ View Abstract

van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJ, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CH, Hofstra RM,

(show remaining authors)

Journal of the American College of Cardiology 49(25):2430-9, 2007 Jun 26 - Who cited this? | PubMed ID: 17599607 | Fulltext

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?.

+ cite this

+ View Abstract

van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, and Jongbloed JD

Current opinion in cardiology 22(3):185-92, 2007 May - Who cited this? | PubMed ID: 17413274 | Fulltext

Getting rid of the PMS2 pseudogenes: mission impossible?.

+ cite this

Niessen RC, Kleibeuker JH, Jager PO, Sijmons RH, and Hofstra RM

Human mutation 28(4):414; author reply 415, 2007 Apr - Who cited this? | PubMed ID: 17139668 | Fulltext

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.

+ cite this

+ View Abstract

Plaza-Menacho I, van der Sluis T, Hollema H, Gimm O, Buys CH, Magee AI, Isacke CM, Hofstra RM, and Eggen BJ

The Journal of biological chemistry 282(9):6415-24, 2007 Mar 2 - Who cited this? | PubMed ID: 17209045 | Fulltext

High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.

+ cite this

+ View Abstract

Davalos V, Dopeso H, Velho S, Ferreira AM, Cirnes L, Díaz-Chico N, Bilbao C, Ramírez R, Rodríguez G, Falcón O, León L, Niessen RC, Keller G, Dallenbach-Hellweg G, Espín E, Armengol M,

(show remaining authors)

Oncogene 26(2):308-11, 2007 Jan 11 - Who cited this? | PubMed ID: 16819508 | Fulltext

Evidence based selection of housekeeping genes.

+ cite this

+ View Abstract

de Jonge HJ, Fehrmann RS, de Bont ES, Hofstra RM, Gerbens F, Kamps WA, de Vries EG, van der Zee AG, te Meerman GJ, and ter Elst A

PLoS ONE 2(9):e898, 2007 - Who cited this? | PubMed ID: 17878933 | Fulltext

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.

+ cite this

+ View Abstract

Niessen RC, Berends MJ, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJ, de Walle HE, de Vries EG, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, and Kleibeuker JH

Gut 55(12):1781-8, 2006 Dec - Who cited this? | PubMed ID: 16636019 | Fulltext

Current concepts in RET-related genetics, signaling and therapeutics.

+ cite this

+ View Abstract

Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, and Hofstra RM

Trends in genetics : TIG 22(11):627-36, 2006 Nov - Who cited this? | PubMed ID: 16979782 | Fulltext

RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.

+ cite this

+ View Abstract

de Groot JW, Links TP, Plukker JT, Lips CJ, and Hofstra RM

Endocrine reviews 27(5):535, 2006 Aug - Who cited this? | PubMed ID: 16849421 | Fulltext

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

+ cite this

+ View Abstract

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N,

(show remaining authors)

Human mutation 27(7):654-66, 2006 Jul - Who cited this? | PubMed ID: 16683254 | Fulltext

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

+ cite this

+ View Abstract

Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA, Hofstra RM, and Bertoli-Avella AM

Journal of medical genetics 43(7):e35, 2006 Jul - Who cited this? | PubMed ID: 16816022 | Fulltext

Cellular effects of imatinib on medullary thyroid cancer cells harboring multiple endocrine neoplasia Type 2A and 2B associated RET mutations.

+ cite this

+ View Abstract

de Groot JW, Plaza Menacho I, Schepers H, Drenth-Diephuis LJ, Osinga J, Plukker JT, Links TP, Eggen BJ, and Hofstra RM

Surgery 139(6):806-14, 2006 Jun - Who cited this? | PubMed ID: 16782438 | Fulltext

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

+ cite this

+ View Abstract

van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, and Hauer RN

Circulation 113(13):1650, 2006 Apr 4 - Who cited this? | PubMed ID: 16567567 | Fulltext

MUTYH and the mismatch repair system: partners in crime?.

+ cite this

+ View Abstract

Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, and Hofstra RM

Human genetics 119(1-2):206-11, 2006 Mar - Who cited this? | PubMed ID: 16408224 | Fulltext

[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].

+ cite this

+ View Abstract

de Groot JW, Links TP, Rouwe CW, van der Wal JE, Hofstra RM, and Plukker JT

Nederlands tijdschrift voor geneeskunde 150(6):311-8, 2006 Feb 11 - Who cited this? | PubMed ID: 16503023 | Fulltext

A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis.

+ cite this

+ View Abstract

Crijns AP, Gerbens F, Plantinga AE, Meersma GJ, De Jong S, Hofstra RM, de Vries EG, van der Zee AG, de Bock GH, and Te Meerman GJ

BMC genomics 7:232, 2006 - Who cited this? | PubMed ID: 16968534 | Fulltext

Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer.

+ cite this

+ View Abstract

Oliveira C, Velho S, Domingo E, Preto A, Hofstra RM, Hamelin R, Yamamoto H, Seruca R, and Schwartz S

Oncogene 24(51):7630-4, 2005 Nov 17 - Who cited this? | PubMed ID: 16007118 | Fulltext

Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patients.

+ cite this

+ View Abstract

Westra JL, Hollema H, Schaapveld M, Platteel I, Oien KA, Keith WN, Mauritz R, Peters GJ, Buys CH, Hofstra RM, and Plukker JT

Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 16(10):1646-53, 2005 Oct - Who cited this? | PubMed ID: 16012177 | Fulltext

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.

+ cite this

+ View Abstract

Westra JL, Schaapveld M, Hollema H, de Boer JP, Kraak MM, de Jong D, ter Elst A, Mulder NH, Buys CH, Hofstra RM, and Plukker JT

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 23(24):5635-43, 2005 Aug 20 - Who cited this? | PubMed ID: 16110022 | Fulltext

Colorectal cancer and the CHEK2 1100delC mutation.

+ cite this

+ View Abstract

de Jong MM, Nolte IM, Te Meerman GJ, van der Graaf WT, Mulder MJ, van der Steege G, Bruinenberg M, Schaapveld M, Niessen RC, Berends MJ, Sijmons RH, Hofstra RM, de Vries EG, and Kleibeuker JH

Genes, chromosomes & cancer 43(4):377-82, 2005 Aug - Who cited this? | PubMed ID: 15852425 | Fulltext

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

+ cite this

+ View Abstract

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA,

(show remaining authors)

American journal of human genetics 77(1):120-6, 2005 Jul - Who cited this? | PubMed ID: 15883926 | Fulltext

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.

+ cite this

+ View Abstract

Domingo E, Niessen RC, Oliveira C, Alhopuro P, Moutinho C, Espín E, Armengol M, Sijmons RH, Kleibeuker JH, Seruca R, Aaltonen LA, Imai K, Yamamoto H, Schwartz S, and Hofstra RM

Oncogene 24(24):3995-8, 2005 Jun 2 - Who cited this? | PubMed ID: 15782118 | Fulltext

A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.

+ cite this

+ View Abstract

Westra JL, Boven LG, van der Vlies P, Faber H, Sikkema B, Schaapveld M, Dijkhuizen T, Hollema H, Buys CH, Plukker JT, Kok K, and Hofstra RM

Genes, chromosomes & cancer 43(2):194-201, 2005 Jun - Who cited this? | PubMed ID: 15729700 | Fulltext

Genetic variation in the bleomycin hydrolase gene and bleomycin-induced pulmonary toxicity in germ cell cancer patients.

+ cite this

+ View Abstract

Nuver J, Lutke Holzik MF, van Zweeden M, Hoekstra HJ, Meijer C, Suurmeijer AJ, Groen HJ, Hofstra RM, Sluiter WJ, Groen H, Sleijfer DT, and Gietema JA

Pharmacogenetics and genomics 15(6):399-405, 2005 Jun - Who cited this? | PubMed ID: 15900213 | Fulltext

Search Google Scholar for Hofstra RM

Join Labmeeting

Organize and search your PDF collection
Collect papers
Search millions of papers
Keep up to date with paper alerts
Read your papers from anywhere
Recommend papers to colleagues
Manage your lab

Labmeeting is a web service for researchers. Sign up with your academic email address.

Individuals or corporations not affiliated with an academic institution can request a trial subscription.

Got a question?
The Labmeeting Network
has the answer.
Ask scientists at top universities like Harvard, Stanford, and MIT for their expert opinion!