Autosomal dominant polycystic kidney disease : modification of disease progressionPETERS, Dorien J. M; BREUNING, Martijn H.Lancet (British edition). 2001, Vol 358, Num 9291, pp 1439-1444, issn 0140-6736Article

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutationsVINK, Geraldine R; WHITE, Stefan J; GABELIC, Strelicija et al.European journal of human genetics. 2005, Vol 13, Num 4, pp 470-474, issn 1018-4813, 5 p.Article

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)LOSEKOOT, Monique; HAARLOO, Cathleen; RUIVENKAMP, Claudia et al.Human genetics. 2005, Vol 118, Num 2, pp 185-206, issn 0340-6717, 22 p.Article

Testing the test: Why pursue a better test for huntington disease?TIMMAN, Reinier; MAAT-KIEVIT, Anneke; BROUWER-DUDOKDEWIT, Christine et al.American journal of medical genetics. 2003, Vol 117B, Num 1, pp 79-85, issn 0148-7299, 7 p.Article

Altered Hippo signalling in polycystic kidney diseaseHAPPE, Hester; VAN DER WAL, Annemieke M; LEONHARD, Wouter N et al.Journal of pathology (Print). 2011, Vol 224, Num 1, pp 133-142, issn 0022-3417, 10 p.Article

No effect of enalapril on progression in autosomal dominant polycystic kidney diseaseVAN DIJK, Marjan A; BREUNING, Martijn H; DUISER, Rik et al.Nephrology, dialysis, transplantation (Print). 2003, Vol 18, Num 11, pp 2314-2320, issn 0931-0509, 7 p.Article

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23DE VRIES, Bert B. A; BREEDVELD, Guido J; DEELEN, Wouter H et al.American journal of medical genetics. 2002, Vol 111, Num 4, pp 443-445, issn 0148-7299Article

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult miceLANTINGA-VAN LEEUWEN, Irma S; LEONHARD, Wouter N; VAN DER WAL, Annemieke et al.Human molecular genetics (Print). 2007, Vol 16, Num 24, pp 3188-3196, issn 0964-6906, 9 p.Article

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeALBERS, Cornelis A; PAUL, Dirk S; BREUNING, Martijn H et al.Nature genetics. 2012, Vol 44, Num 4, pp 435-439, issn 1061-4036, 5 p.Article

Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertensionHASSANE, Sabrine; CLAIJ, Nanna; HONORE, Eric et al.Laboratory investigation. 2011, Vol 91, Num 1, pp 24-32, issn 0023-6837, 9 p.Article

The clinical spectrum of complete FBN1 allele deletionsHILHORST-HOFSTEE, Yvonne; HAMEL, Ben Cj; MOLL, Henriette A et al.European journal of human genetics. 2011, Vol 19, Num 3, pp 247-252, issn 1018-4813, 6 p.Article

Elevated TGFβ-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney diseaseHASSANE, Sabrine; LEONHARD, Wouter N; VAN DER WAL, Annemieke et al.Journal of pathology (Print). 2010, Vol 222, Num 1, pp 21-31, issn 0022-3417, 11 p.Article

Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutationVIDARSDOTTIR, Solrun; WALENKAMP, Marie J. E; VAN DISSEL, Jaap et al.The Journal of clinical endocrinology and metabolism. 2006, Vol 91, Num 9, pp 3482-3485, issn 0021-972X, 4 p.Article

Incipient CADASILOBERSTEIN, Saskia A. J. Lesnik; VAN DEN BOOM, Rivka; MIDDELKOOP, Huub A. M et al.Archives of neurology (Chicago). 2003, Vol 60, Num 5, pp 707-712, issn 0003-9942, 6 p.Article

Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cellsSCHEFFERS, Martijn S; HANG LE; VAN DER BENT, Paola et al.Human molecular genetics (Print). 2002, Vol 11, Num 1, pp 59-67, issn 0964-6906Article

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeSANTEN, Gijs W. E; ATEN, Emmelien; WESSELS, Marja W et al.Nature genetics. 2012, Vol 44, Num 4, pp 379-380, issn 1061-4036, 2 p.Article

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeDAUWERSE, Johannes G; DIXON, Jill; ZWEIER, Christiane et al.Nature genetics. 2011, Vol 43, Num 1, pp 20-22, issn 1061-4036, 3 p.Article

Lacunar infarcts are the main correlate with cognitive dysfunction in cadasilLIEM, Michael K; VAN DER GROND, Jeroen; HAAN, Joost et al.Stroke (1970). 2007, Vol 38, Num 3, pp 923-928, issn 0039-2499, 6 p.Article

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3CONSUGAR, Mark B; KUBLY, Vickie J; LAGER, Donna J et al.Human genetics. 2007, Vol 121, Num 5, pp 591-599, issn 0340-6717, 9 p.Article

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceKRIEK, Marjolein; SZUHAI, Karoly; BREUNING, Martijn H et al.Human genetics. 2006, Vol 120, Num 1, pp 77-84, issn 0340-6717, 8 p.Article

Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney diseaseHANG LE, Ngoc; VAN DER WAL, Annemieke; VAN DER BENT, Paola et al.Journal of the American Society of Nephrology. 2005, Vol 16, Num 9, pp 2724-2731, issn 1046-6673, 8 p.Article

Diagnosis of genetic abnormalities in developmentally delayed patients : A new strategy combining MLPA and array-CGHKRIEK, Marjolein; KNIJNENBURG, Jeroen; WHITE, Stefan J et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 6, pp 610-614, issn 1552-4825, 5 p.Article

Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutationWALENKAMP, Marie J. E; VIDARSDOTTIR, Solrun; JANSSEN, Riny et al.European journal of endocrinology. 2007, Vol 156, Num 2, pp 155-165, issn 0804-4643, 11 p.Article

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial williams-beuren duplicationsKRIEK, Marjolein; WHITE, Stefan J; SZUHAI, Karoly et al.European journal of human genetics. 2006, Vol 14, Num 2, pp 180-189, issn 1018-4813, 10 p.Article

Feeling at risk: How women interpret their familial breast cancer riskVAN DIJK, Sandra; OTTEN, Wilma; VAN ASPEREN, Christi J et al.American journal of medical genetics. 2004, Vol 131A, Num 1, pp 42-49, issn 0148-7299, 8 p.Article