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Results: 1-19 |
Results: 19
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families
Authors: Verhoog, LC van den Ouweland, AMW Berns, E van Veghel-Plandsoen, MM van Staveren, IL Wagner, A Bartels, CCM Tilanus-Linthorst, MMA Devilee, P Seynaeve, C Halley, DJJ Niermeijer, MF Klijn, JGM Meijers-Heijboer, H
Citation: Lc. Verhoog et al., Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families, EUR J CANC, 37(16), 2001, pp. 2082-2090
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
Authors: Benvenuto, G Li, SW Brown, SJ Braverman, R Vass, WC Cheadle, JP Halley, DJJ Sampson, JR Wienecke, R DeClue, JE
Citation: G. Benvenuto et al., The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination, ONCOGENE, 19(54), 2000, pp. 6306-6316
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
Authors: Eussen, BHJ Bartalini, G Bakker, L Balestri, P Di Lucca, C Van Hemel, JO Dauwerse, H van den Ouweland, AMW Ris-Stalpers, C Verhoef, S Halley, DJJ Fois, A
Citation: Bhj. Eussen et al., An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito, J MED GENET, 37(4), 2000, pp. 287-291
Residual chloride secretion in intestinal tissue of Delta F508 homozygous twins and siblings with cystic fibrosis
Authors: Bronsveld, I Mekus, F Bijman, J Ballmann, M Greipel, J Hundrieser, J Halley, DJJ Laabs, U Busche, R De Jonge, HR Tummler, B Veeze, HJ
Citation: I. Bronsveld et al., Residual chloride secretion in intestinal tissue of Delta F508 homozygous twins and siblings with cystic fibrosis, GASTROENTY, 119(1), 2000, pp. 32-40
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families
Authors: Westerman, AM Entius, MM Boor, PPC Koole, R de Baar, E Offerhaus, GJA Lubinski, J Lindhout, D Halley, DJJ de Rooij, FWM Wilson, JHP
Citation: Am. Westerman et al., Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families, HUM MUTAT, 13(6), 1999, pp. 476-481
Survival in hereditary breast cancer associated with germline mutations ofBRCA2
Authors: Verhoog, LC Brekelmans, CTM Seynaeve, C Dahmen, G van Geel, AN Bartels, CCM Tilanus-Linthorst, MMA Wagner, A Devilee, P Halley, DJJ van den Ouweland, AMW Meijers-Heijboer, EJ Klijn, JGM
Citation: Lc. Verhoog et al., Survival in hereditary breast cancer associated with germline mutations ofBRCA2, J CL ONCOL, 17(11), 1999, pp. 3396-3402
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
Authors: Verhoef, S van Diemen-Steenvoorde, R Akkersdijk, WL Bax, NMA Ariyurek, Y Hermans, CJ van Nieuwenhuizen, O Nikkels, PGJ Lindhout, D Halley, DJJ Lips, K van den Ouweland, AMW
Citation: S. Verhoef et al., Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood, EUR J PED, 158(4), 1999, pp. 284-287
The complex relationships between cystic fibrosis and congenital bilateralabsence of the vas deferens: clinical, electrophysiological and genetic data
Authors: Dohle, GR Veeze, HJ Overbeek, SE van den Ouweland, AMW Halley, DJJ Weber, RFA Niermeijer, MF
Citation: Gr. Dohle et al., The complex relationships between cystic fibrosis and congenital bilateralabsence of the vas deferens: clinical, electrophysiological and genetic data, HUM REPR, 14(2), 1999, pp. 371-374
Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases
Authors: van den Berg, C Braat, APG Van Opstal, D Halley, DJJ Kleijer, WJ den Hollander, NS Brandenburg, H Pijpers, L Los, FJ
Citation: C. Van Den Berg et al., Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases, PRENAT DIAG, 19(3), 1999, pp. 234-244
Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation
Authors: van den Berg, C Pijpers, L Halley, DJJ Van Opstal, D Los, FJ
Citation: C. Van Den Berg et al., Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation, AM J MED G, 86(2), 1999, pp. 151-155
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
Authors: Berends, MJW Hordijk, R Scheffer, H Oosterwijk, JC Halley, DJJ Sorgedrager, N
Citation: Mjw. Berends et al., Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype, AM J MED G, 84(1), 1999, pp. 76-79
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency
Authors: Andresen, BS Olpin, S Kvittingen, EA Augoustides-Savvopoulou, P Lindhout, D Halley, DJJ Vianey-Saban, C Wanders, RJA IJlst, L Schroeder, LD Bolund, L Gregersen, N
Citation: Bs. Andresen et al., DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(3), 1999, pp. 281-285
Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene
Authors: van den Ouweland, AMW Bakker, PLG Halley, DJJ Catsman-Berrevoets, CE
Citation: Amw. Van Den Ouweland et al., Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene, J MED GENET, 36(9), 1999, pp. 723-724
Screening for the fragile X syndrome among the mentally retarded: a clinical study
Authors: de Vries, BBA Mohkamsing, S van den Ouweland, AMW Mol, E Gelsema, K van Rijn, M Tibben, A Halley, DJJ Duivenvoorden, HJ Oostra, BA Niermeijer, MF
Citation: Bba. De Vries et al., Screening for the fragile X syndrome among the mentally retarded: a clinical study, J MED GENET, 36(6), 1999, pp. 467-470
Fragile X syndrome: of POF and premutations
Authors: De Vries, BBA Halley, DJJ Oostra, BA Niermeijer, MF
Citation: Bba. De Vries et al., Fragile X syndrome: of POF and premutations, J MED GENET, 36(2), 1999, pp. 171-172
17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
Authors: Boehmer, ALM Brinkmann, AO Sandkuijl, LA Halley, DJJ Niermeijer, MF Andersson, S de Jong, FH Kayserili, H de Vroede, MA Otten, BJ Rouwe, CW Mendonca, BB Rodrigues, C Bode, HH de Ruiter, PE Delemarre-van de Waal, HA Drop, SLS
Citation: Alm. Boehmer et al., 17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations, J CLIN END, 84(12), 1999, pp. 4713-4721
Characterization of the cytosolic tuberin-hamartin complex - Tuberin is a cytosolic chaperone for hamartin
Authors: Nellist, M van Slegtenhorst, MA Goedbloed, M van den Ouweland, AMW Halley, DJJ van der Sluijs, P
Citation: M. Nellist et al., Characterization of the cytosolic tuberin-hamartin complex - Tuberin is a cytosolic chaperone for hamartin, J BIOL CHEM, 274(50), 1999, pp. 35647-35652
High rate of mosaicism in tuberous sclerosis complex
Authors: Verhoef, S Bakker, L Tempelaars, AMP Hesseling-Janssen, ALW Mazurczak, T Jozwiak, S Fois, A Bartalini, G Zonnenberg, BA van Essen, AJ Lindhout, D Halley, DJJ van den Ouweland, AMW
Citation: S. Verhoef et al., High rate of mosaicism in tuberous sclerosis complex, AM J HU GEN, 64(6), 1999, pp. 1632-1637
Screening with the FMR1 protein test among mentally retarded males
Authors: de Vries, BBA Mohkamsing, S van den Ouweland, AMW Halley, DJJ Niermeijer, MF Oostra, BA Willemsen, R
Citation: Bba. De Vries et al., Screening with the FMR1 protein test among mentally retarded males, HUM GENET, 103(4), 1998, pp. 520-522
Risultati: 1-19 |