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Results: 1-25 | 26-34
Results: 1-25/34
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing
Authors: Lodder, L Frets, PG Trijsburg, RW Tibben, A Meijers-Heijboer, EJ Duivenvoorden, HJ Wagner, A van der Meer, CA Devilee, P Cornelisse, CJ Niermeijer, MF
Citation: L. Lodder et al., Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing, EUR J HUM G, 9(7), 2001, pp. 492-500
Early prenatal sonographic diagnosis and follow-up of Jeune syndrome
Authors: Den Hollander, NS Robben, SGF Hoogeboom, AJM Niermeijer, MF Wladimiroff, JW
Citation: Ns. Den Hollander et al., Early prenatal sonographic diagnosis and follow-up of Jeune syndrome, ULTRASOUN O, 18(4), 2001, pp. 378-383
Prenatal diagnosis of type A1 brachydactyly
Authors: den Hollander, NS Hoogeboom, AJM Niermeijer, MF Wladimiroff, JW
Citation: Ns. Den Hollander et al., Prenatal diagnosis of type A1 brachydactyly, ULTRASOUN O, 17(6), 2001, pp. 529-530
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
Complex compulsive behaviour in the temporal variant of frontotemporal dementia
Authors: Rosso, SM Roks, G Stevens, M de Koning, I Tanghe, HLJ Kamphorst, W Ravid, R Niermeijer, MF van Swieten, JC
Citation: Sm. Rosso et al., Complex compulsive behaviour in the temporal variant of frontotemporal dementia, J NEUROL, 248(11), 2001, pp. 965-970
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
Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome
Authors: van Haelst, MM Hoogeboom, J Galjaard, RJH Kleijer, WJ den Hollander, NS de Krijger, RR Hennekam, RCM Niermeijer, MF
Citation: Mm. Van Haelst et al., Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome, AM J MED G, 104(1), 2001, pp. 65-68
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
Etiological studies of severe or familial hypospadias
Authors: Boehmer, ALM Nijman, RJM Lammers, BAS De Coninck, SJF Van Hemel, JO Themmen, APN Mureau, MAM De Jong, FH Brinkmann, AO Niermeijer, MF Drop, SLS
Citation: Alm. Boehmer et al., Etiological studies of severe or familial hypospadias, J UROL, 165(4), 2001, pp. 1246-1254
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree
Authors: Wagner, A Hendriks, Y Meijers-Heijboer, EJ de Leeuw, WJF Morreau, H Hofstra, R Tops, C Bik, E Brocker-Vriends, AHJT van der Meer, C Lindhout, D Vasen, HFA Breuning, MH Cornelisse, CJ van Krimpen, C Niermeijer, MF Zwinderman, AH Wijnen, J Fodde, R
Citation: A. Wagner et al., Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree, J MED GENET, 38(5), 2001, pp. 318-322
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
Authors: de Vries, BBA White, SM Knight, SJL Regan, R Homfray, T Young, ID Super, M McKeown, C Splitt, M Quarrell, OWJ Trainer, AH Niermeijer, MF Malcolm, S Flint, J Hurst, JA Winter, RM
Citation: Bba. De Vries et al., Clinical studies on submicroscopic subtelomeric rearrangements: a checklist, J MED GENET, 38(3), 2001, pp. 145-150
Genotype versus phenotype in families with androgen insensitivity syndrome
Authors: Boehmer, ALM Bruggenwirth, H Van Assendelft, C Otten, BJ Verleun-Mooijman, MCT Niermeijer, MF Brunner, HG Rouwe, CW Waelkens, JJ Oostdijk, W Kleijer, WJ Van der Kwast, TH De Vroede, MA Drop, SLS
Citation: Alm. Boehmer et al., Genotype versus phenotype in families with androgen insensitivity syndrome, J CLIN END, 86(9), 2001, pp. 4151-4160
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5 alpha dihydrotestosterone availability
Authors: Boehmer, ALM Brinkmann, AO Nijman, RM Verleun-Mooijman, MCT de Ruiter, P Niermeijer, MF Drop, SLS
Citation: Alm. Boehmer et al., Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5 alpha dihydrotestosterone availability, J CLIN END, 86(3), 2001, pp. 1240-1246
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q2l-22
Authors: Rosso, SM Kamphorst, W de Graaf, B Willemsen, R Ravid, R Niermeijer, MF Spillantini, MG Heutink, P van Swieten, JC
Citation: Sm. Rosso et al., Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q2l-22, BRAIN, 124, 2001, pp. 1948-1957
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Authors: Shackleton, S Lloyd, DJ Jackson, SNJ Evans, R Niermeijer, MF Singh, BM Schmidt, H Brabant, G Kumar, S Durrington, PN Gregory, S O'Rahilly, S Trembath, RC
Citation: S. Shackleton et al., LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, NAT GENET, 24(2), 2000, pp. 153-156
In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
Authors: Den Hollander, NS Kleijer, WJ Schoonderwaldt, EM Los, FJ Wladimiroff, JW Niermeijer, MF
Citation: Ns. Den Hollander et al., In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency, ULTRASOUN O, 16(1), 2000, pp. 87-90
Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance
Authors: Den Hollander, NS Wessels, MW Los, FJ Ursem, NTC Niermeijer, MF Wladimiroff, JW
Citation: Ns. Den Hollander et al., Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance, ULTRASOUN O, 15(4), 2000, pp. 282-287
Androgen insensitivity syndrome (AIS): Emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis
Authors: Slijper, FME Frets, PG Boehmer, ALM Drop, SLS Niermeijer, MF
Citation: Fme. Slijper et al., Androgen insensitivity syndrome (AIS): Emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis, HORMONE RES, 53(1), 2000, pp. 9-15
Unexpected life-threatening complications in Kabuki syndrome
Authors: van Haelst, MM Brooks, AS Hoogeboom, J Wessels, MW Tibboel, D de Jongste, JC den Hollander, JC Bongers-Schokking, JJ Niermeijer, MF Willems, PJ
Citation: Mm. Van Haelst et al., Unexpected life-threatening complications in Kabuki syndrome, AM J MED G, 94(2), 2000, pp. 170-173
Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands
Authors: Lodder, LN Frets, PG Trijsburg, RW Meijers-Heijboer, EJ Klijn, JGM Niermeijer, MF
Citation: Ln. Lodder et al., Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands, J MED GENET, 37(11), 2000, pp. 883-884
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)
Authors: Roks, G Van Harskamp, F De Koning, I Cruts, M De Jonghe, C Kumar-Singh, S Tibben, A Tanghe, H Niermeijer, MF Hofman, A Van Swieten, JC Van Broeckhoven, C Van Duijn, CM
Citation: G. Roks et al., Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692), BRAIN, 123, 2000, pp. 2130-2140
Benign hereditary chorea of early onset maps to chromosome 14q
Authors: de Vries, BBA Arts, WFM Breedveld, GJ Hoogeboom, JJM Niermeijer, MF Heutink, P
Citation: Bba. De Vries et al., Benign hereditary chorea of early onset maps to chromosome 14q, AM J HU GEN, 66(1), 2000, pp. 136-142
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
Authors: Stone, DL van Diggelen, OP de Klerk, JBC Gaillard, JLJ Niermeijer, MF Willemsen, R Tayebi, N Sidransky, E
Citation: Dl. Stone et al., Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?, EUR J HUM G, 7(4), 1999, pp. 505-509
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
Authors: van Swieten, JC Stevens, M Rosso, SM Rizzu, P Joosse, M de Koning, I Kamphorst, W Ravid, R Spillantini, MG Niermeijer, MF Heutink, P
Citation: Jc. Van Swieten et al., Phenotypic variation in hereditary frontotemporal dementia with tau mutations, ANN NEUROL, 46(4), 1999, pp. 617-626
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
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