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XLMR genes: update 2000
Authors: Chiurazzi, P Hamel, BCJ Neri, G
Citation: P. Chiurazzi et al., XLMR genes: update 2000, EUR J HUM G, 9(2), 2001, pp. 71-81
Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype
Authors: Van Buggenhout, GJCM Trijbels, JMF Wevers, R Trommelen, JCM Hamel, BCJ Brunner, HG Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype, GEN COUNSEL, 12(1), 2001, pp. 1-21
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAMdomain of p63
Authors: McGrath, JA Duijf, PHG Doetsch, V Irvine, AD de Waal, R Vanmolkot, KRJ Wessagowit, V Kelly, A Atherton, DJ Griffiths, WAD Orlow, SJ van Haeringen, A Ausems, MGEM Yang, A McKeon, F Bamshad, MA Brunner, HG Hamel, BCJ van Bokhoven, H
Citation: Ja. Mcgrath et al., Hay-Wells syndrome is caused by heterozygous missense mutations in the SAMdomain of p63, HUM MOL GEN, 10(3), 2001, pp. 221-229
Meier-Gorlin syndrome: Report of eight additional cases and review
Authors: Bongers, EMHF Opitz, JM Fryer, A Sarda, P Hennekam, RCM Hall, BD Superneau, DW Harbison, M Poss, A van Bokhoven, H Hamel, BCJ Knoers, NVAM
Citation: Emhf. Bongers et al., Meier-Gorlin syndrome: Report of eight additional cases and review, AM J MED G, 102(2), 2001, pp. 115-124
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)
Authors: Van Buggenhout, GJCM Trommelen, JCM Brunner, HG Hamel, BCJ Fryns, JP
Citation: Gjcm. Van Buggenhout et al., The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR), ANN GENET, 44(1), 2001, pp. 47-55
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Authors: van Bokhoven, H Hamel, BCJ Bamshad, M Sangiorgi, E Gurrieri, F Duijf, PHG Vanmolkot, KRJ van Beusekom, E van Beersum, SEC Celli, J Merkx, GFM Tenconi, R Fryns, JP Verloes, A Newbury-Ecob, RA Raas-Rotschild, A Majewski, F Beemer, FA Janecke, A Chitayat, D Crisponi, G Kayserili, H Yates, JRW Neri, G Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
Authors: Kutsche, K Yntema, H Brandt, A Jantke, I Nothwang, HG Orth, U Boavida, MG David, D Chelly, J Fryns, JP Moraine, C Ropers, HH Hamel, BCJ van Bokhoven, H Gal, A
Citation: K. Kutsche et al., Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation, NAT GENET, 26(2), 2000, pp. 247-250
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
Authors: Tranebjaerg, L Hamel, BCJ Gabreels, FJM Renier, WO Van Ghelue, M
Citation: L. Tranebjaerg et al., A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome, EUR J HUM G, 8(6), 2000, pp. 464-467
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications
Authors: Van Buggenhout, GJCM Descheemaeker, MJ Thiry, P Trommelen, JCM Hamel, BCJ Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Angelman syndrome in three adult patients with atypical presentation and severe neurological complications, GEN COUNSEL, 11(4), 2000, pp. 363-373
Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes
Authors: Hol, FA Schepens, MT van Beersum, SEC Redolfi, E Affer, M Vezzoni, P Hamel, BCJ Karnes, PS Mariman, ECM Zucchi, I
Citation: Fa. Hol et al., Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes, GENOMICS, 69(2), 2000, pp. 174-181
Maternal uniparental disomy 7 - review and further delineation of the phenotype
Authors: Kotzot, D Balmer, D Baumer, A Chrzanowska, K Hamel, BCJ Ilyina, H Krajewska-Walasek, M Lurie, IW Otten, BJ Schoenle, E Tariverdian, G Schinzel, A
Citation: D. Kotzot et al., Maternal uniparental disomy 7 - review and further delineation of the phenotype, EUR J PED, 159(4), 2000, pp. 247-256
Immunological tolerance in an HLA non-identical chimeric twin (vol 61, pg 190, 2000)
Authors: Vietor, HE Hamel, BCJ van Bree, SPMJ van der Meer, EMW Smeets, DFCM Otten, BJ Holl, RA Claas, FHJ
Citation: He. Vietor et al., Immunological tolerance in an HLA non-identical chimeric twin (vol 61, pg 190, 2000), HUMAN IMMUN, 61(7), 2000, pp. 720-720
Immunological tolerance in an HLA non-identical chimeric twin
Authors: Vietor, HE Hamel, BCJ van Bree, SPMJ van der Meer, EMW Smeets, DFCM Otten, BJ Holl, RA Claas, FHJ
Citation: He. Vietor et al., Immunological tolerance in an HLA non-identical chimeric twin, HUMAN IMMUN, 61(3), 2000, pp. 190-192
Syndromic XLMR genes (MRXS): Update 2000
Authors: Hamel, BCJ Chiurazzi, P Lubs, HA
Citation: Bcj. Hamel et al., Syndromic XLMR genes (MRXS): Update 2000, AM J MED G, 94(5), 2000, pp. 361-363
Cri du chat syndrome: Changing phenotype in older patients
Authors: Van Buggenhout, GJCM Pijkels, E Holvoet, M Schaap, C Hamel, BCJ Fryns, JP
Citation: Gjcm. Van Buggenhout et al., Cri du chat syndrome: Changing phenotype in older patients, AM J MED G, 90(3), 2000, pp. 203-215
Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG
Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
Authors: Yntema, HG van den Helm, B Kissing, J van Duijnhoven, G Poppelaars, F Chelly, J Moraine, C Fryns, JP Hamel, BCJ Heilbronner, H Pander, HJ Brunner, HG Ropers, HH Cremers, FPM van Bokhoven, H
Citation: Hg. Yntema et al., A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation, GENOMICS, 62(3), 1999, pp. 332-343
Perlman syndrome: Four additional cases and review
Authors: Henneveld, HT van Lingen, RA Hamel, BCJ Stolte-Dijkstra, I van Essen, AJ
Citation: Ht. Henneveld et al., Perlman syndrome: Four additional cases and review, AM J MED G, 86(5), 1999, pp. 439-446
Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care
Authors: Van Buggenhout, GJCM Trommelen, JCM Schoenmaker, A De Bal, C Verbeek, JJMC Smeets, DFCM Ropers, HH Devriendt, K Hamel, BCJ
Citation: Gjcm. Van Buggenhout et al., Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care, AM J MED G, 85(4), 1999, pp. 376-384
X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3
Authors: Siderius, LE Hamel, BCJ van Bokhoven, H de Jager, F van den Helm, B Kremer, H Heineman-de Boer, JA Ropers, HH Mariman, ECM
Citation: Le. Siderius et al., X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3, AM J MED G, 85(3), 1999, pp. 216-220
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
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
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