AAAAAA

   
Results: 1-16 |
Results: 16
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
Psychological impact of receiving a BRCA1/BRCA2 test result
Authors: Lodder, L Frets, PG Trijsburg, RW Meijers-Heijboer, EJ Klijn, JGM Duivenvoorden, HJ Tibben, A Wagner, A van der Meer, CA van den Ouweland, AMW Niermeijer, MF
Citation: L. Lodder et al., Psychological impact of receiving a BRCA1/BRCA2 test result, AM J MED G, 98(1), 2001, pp. 15-24
Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.
Authors: Meijers-Heijboer, H van Geel, B van Putten, WLJ Henzen-Logmans, SC Seynaeve, C Menke-Pluymers, MBE Bartels, CCM Verhoog, LC van den Ouweland, AMW Niermeijer, MF Brekelmans, CTM Klijn, JGM
Citation: H. Meijers-heijboer et al., Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation., N ENG J MED, 345(3), 2001, pp. 159-164
Immunological detection of polycystin-1 in human kidney
Authors: Nauta, J Goedbloed, MA van den Ouweland, AMW Nellist, M Hoogeveen, AT
Citation: J. Nauta et al., Immunological detection of polycystin-1 in human kidney, HISTOCHEM C, 113(4), 2000, pp. 303-311
Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation
Authors: Meijers-Heijboer, EJ Verhoog, LC Brekelmans, CTM Seynaeve, C Tilanus-Linthorst, MMA Wagner, A Dukel, L Devilee, P van den Ouweland, AMW van Geel, AN Klijn, JGM
Citation: Ej. Meijers-heijboer et al., Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation, LANCET, 355(9220), 2000, pp. 2015-2020
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
Genetic testing and prophylactic surgery in familiar clusters of BRCA1 or BRCA2 mutation
Authors: Meijers-Heijboer, EJ Verhoog, LC Brekelmans, CTM Seynaeve, C Tilanus-Linthorst, MMA Wagner, A Dukel, L Devilee, P van den Ouweland, AMW van Geel, AN Klijn, JGM
Citation: Ej. Meijers-heijboer et al., Genetic testing and prophylactic surgery in familiar clusters of BRCA1 or BRCA2 mutation, GYNAKOLOGE, 33(10), 2000, pp. 768-769
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
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
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
Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2
Authors: Hulsebos, TJM Oskam, NT Bijleveld, EH Westerveld, A Hermsen, MA van den Ouweland, AMW Hamel, BC Tijssen, CC
Citation: Tjm. Hulsebos et al., Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2, BR J CANC, 81(7), 1999, pp. 1150-1154
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: 1-16 |