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Results: 1-11 |
Results: 11
Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
Authors: Hundscheid, RDL Braat, DDM Kiemeney, LALM Smits, APT Thomas, CMG
Citation: Rdl. Hundscheid et al., Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives, HUM REPR, 16(3), 2001, pp. 457-462
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X - Reply
Authors: Hundscheid, RDL Thomas, CMG Braat, DDM Oostra, BA Smits, APT
Citation: Rdl. Hundscheid et al., Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X - Reply, AM J HU GEN, 67(1), 2000, pp. 256-258
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
Authors: Hundscheid, RDL Sistermans, EA Thomas, CMG Braat, DDM Straatman, H Kiemeney, LALM Oostra, BA Smits, APT
Citation: Rdl. Hundscheid et al., Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations, AM J HU GEN, 66(2), 2000, pp. 413-418
Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?
Authors: van Kasteren, YM Hundscheid, RDL Smits, APT Cremers, FPM van Zonneveld, P Braat, DDM
Citation: Ym. Van Kasteren et al., Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?, HUM REPR, 14(10), 1999, pp. 2455-2459
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
Authors: Hamel, BCJ Smits, APT van den Helm, B Smeets, DFCM Knoers, NVAM van Roosmalen, T Thoonen, GHJ Assman-Hulsmans, CFCH Ropers, HH Mariman, ECM Kremer, H
Citation: Bcj. Hamel et al., Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis, AM J MED G, 85(3), 1999, pp. 290-304
X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
Authors: Yntema, HG van den Helm, B Knoers, NVAM Smits, APT van Roosmalen, T Smeets, DFCM Mariman, ECM van der Burgt, I van Bokhoven, H Ropers, HH Kremer, H Hamel, BCJ
Citation: Hg. Yntema et al., X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region, AM J MED G, 85(3), 1999, pp. 305-308
Longitudinal changes in cognitive-behavioral levels in three children withFRAXE
Authors: Fisch, GS Carpenter, NJ Simensen, R Smits, APT van Roosmalen, T Hamel, BCJ
Citation: Gs. Fisch et al., Longitudinal changes in cognitive-behavioral levels in three children withFRAXE, AM J MED G, 84(3), 1999, pp. 291-292
Psychometric assessment of families with X-linked mental retardation
Authors: van Roosmalen, T Smits, APT Thoonen, GHJ Hamel, BCJ Assman-Hulmans, CFCH Gabreels, FJM
Citation: T. Van Roosmalen et al., Psychometric assessment of families with X-linked mental retardation, AM J MED G, 83(4), 1999, pp. 264-267
Menstrual disorders and endocrine profiles in fragile X carriers prior to 40 years of age: A pilot study
Authors: Braat, DDM Smits, APT Thomas, CMG
Citation: Ddm. Braat et al., Menstrual disorders and endocrine profiles in fragile X carriers prior to 40 years of age: A pilot study, AM J MED G, 83(4), 1999, pp. 327-328
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
Authors: Celli, J Duijf, P Hamel, BCJ Bamshad, M Kramer, B Smits, APT Newbury-Ecob, R Hennekam, RCM Van Buggenhout, G van Haeringen, B Woods, CG van Essen, AJ de Waal, R Vriend, G Haber, DA Yang, A McKeon, F Brunner, HG van Bokhoven, H
Citation: J. Celli et al., Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome, CELL, 99(2), 1999, pp. 143-153
Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
Authors: van Bokhoven, H Jung, M Smits, APT van Beersum, S Ruschendorf, F van Steensel, M Veenstra, M Tuerlings, JHAM Mariman, ECM Brunner, HG Wienker, TF Reis, A Ropers, HH Hamel, BCJ
Citation: H. Van Bokhoven et al., Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27, AM J HU GEN, 64(2), 1999, pp. 538-546
Risultati: 1-11 |