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Results: 1-25 | 26-46
Results: 1-25/46
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Authors: Tartaglia, M Mehler, EL Goldberg, R Zampino, G Brunner, HG Kremer, H van der Burgt, I Crosby, AH Ion, A Jeffery, S Kalidas, K Patton, MA Kucherlapati, RS Gelb, BD
Citation: M. Tartaglia et al., Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome, NAT GENET, 29(4), 2001, pp. 465-468
Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001)
Authors: Tartaglia, M Mehler, EL Goldberg, R Zampino, G Brunner, HG Kremer, H van der Burgt, I Crosby, AH Ion, A Jeffery, S Kalidas, K Patton, MA Kucherlapati, RS Gelb, B
Citation: M. Tartaglia et al., Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001), NAT GENET, 29(4), 2001, pp. 491-491
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
3-M syndrome: description of six new patients with review of the literature
Authors: van der Wall, G Otten, BJ Brunner, HG van der Burgt, I
Citation: G. Van Der Wall et al., 3-M syndrome: description of six new patients with review of the literature, CLIN DYSMOR, 10(4), 2001, pp. 241-252
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Authors: Gong, YQ Slee, RB Fukai, N Rawadi, G Roman-Roman, S Reginato, AM Wang, HW Cundy, T Glorieux, FH Lev, D Zacharin, M Oexle, K Marcelino, J Suwairi, W Heeger, S Sabatakos, G Apte, S Adkins, WN Allgrove, J Arslan-Kirchner, M Batch, JA Beighton, P Black, GCM Boles, RG Boon, LM Borrone, C Brunner, HG Carle, GF Dallapiccola, B De Paepe, A Floege, B Halfhide, ML Hall, B Hennekam, RC Hirose, T Jans, A Juppner, H Kim, CA Keppler-Noreuil, K Kohlschuetter, A LaCombe, D Lambert, M Lemyre, E Letteboer, T Peltonen, L Ramesar, RS Romanengo, M Somer, H Steichen-Gersdorf, E Steinmann, B Sullivan, B Superti-Furga, A Swoboda, W van den Boogaard, MJ Van Hul, V Vikkula, M Votruba, M Zabel, B Garcia, T Baron, R Olsen, BR Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
Authors: Cormand, B Pihko, H Bayes, M Valanne, L Santavuori, P Talim, B Gershoni-Baruch, R Ahmad, A van Bokhoven, H Brunner, HG Voit, T Topaloglu, H Dobyns, WB Lehesjoki, AE
Citation: B. Cormand et al., Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, NEUROLOGY, 56(8), 2001, pp. 1059-1069
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
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
Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
Authors: den Hollander, AI Heckenlively, JR van den Born, LI de Kok, YJM van der Velde-Visser, SD Kellner, U Jurklies, B van Schooneveld, MJ Blankenagel, A Rohrschneider, K Wissinger, B Cruysberg, JRM Deutman, AF Brunner, HG Apfeldstedt-Sylla, E Hoyng, CB Cremers, FPM
Citation: Ai. Den Hollander et al., Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene, AM J HU GEN, 69(1), 2001, pp. 198-203
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Authors: van Bokhoven, H Celli, J Kayserili, H van Beusekom, E Balci, S Brussel, W Skovby, F Kerr, B Percin, EF Akarsu, N Brunner, HG
Citation: H. Van Bokhoven et al., Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome, NAT GENET, 25(4), 2000, pp. 423-426
Bohring syndrome
Authors: Brunner, HG van Tintelen, JP de Boer, RJ
Citation: Hg. Brunner et al., Bohring syndrome, AM J MED G, 92(5), 2000, pp. 366-368
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation
Authors: Admiraal, RJC Brunner, HG Dijkstra, TL Huygen, PLM Cremers, CWRJ
Citation: Rjc. Admiraal et al., Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation, LARYNGOSCOP, 110(3), 2000, pp. 457-461
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6
Authors: Ion, A Crosby, AH Kremer, H Kenmochi, N Van Reen, M Fenske, C Van der Burgt, I Brunner, HG Montgomery, K Kucherlapati, RS Patton, MA Page, DC Mariman, E Jeffery, S
Citation: A. Ion et al., Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6, J MED GENET, 37(11), 2000, pp. 884-886
Cutis marmorata telangiectatica congenita: report of 18 cases
Authors: Gerritsen, MJP Steijlen, PM Brunner, HG Rieu, P
Citation: Mjp. Gerritsen et al., Cutis marmorata telangiectatica congenita: report of 18 cases, BR J DERM, 142(2), 2000, pp. 366-369
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
Authors: Maugeri, A Klevering, BJ Rohrschneider, K Blankenagel, A Brunner, HG Deutman, AF Hoyng, CB Cremers, FPM
Citation: A. Maugeri et al., Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy, AM J HU GEN, 67(4), 2000, pp. 960-966
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
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
Authors: Melkoniemi, M Brunner, HG Manouvrier, S Hennekam, R Superti-Furga, A Kaariainen, H Pauli, RM van Essen, T Warman, ML Bonaventure, J Miny, P Ala-Kokko, L
Citation: M. Melkoniemi et al., Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene, AM J HU GEN, 66(2), 2000, pp. 368-377
Familial syndromic esophageal atresia maps to 2p23-p24
Authors: Celli, J van Beusekom, E Hennekam, RCM Gallardo, ME Smeets, DFCM de Cordoba, SR Innis, JW Frydman, M Konig, R Kingston, H Tolmie, J Govaerts, LCP van Bokhoven, H Brunner, HG
Citation: J. Celli et al., Familial syndromic esophageal atresia maps to 2p23-p24, AM J HU GEN, 66(2), 2000, pp. 436-444
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
Authors: McGuirt, WT Prasad, SD Griffith, AJ Kunst, HPM Green, GE Shpargel, KB Runge, C Huybrechts, C Mueller, RF Lynch, E King, MC Brunner, HG Cremers, CWRJ Takanosu, M Li, SW Arita, M Mayne, R Prockop, DJ Van Camp, G Smith, RJH
Citation: Wt. Mcguirt et al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), NAT GENET, 23(4), 1999, pp. 413-419
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Authors: den Hollander, AI ten Brink, JB de Kok, YJM van Soest, S van den Born, LI van Driel, MA van de Pol, DJR Payne, AM Bhattacharya, SS Kellner, U Hoyng, CB Westerveld, A Brunner, HG Bleeker-Wagemakers, EM Deutman, AF Heckenlively, JR Cremers, FPM Bergen, AAB
Citation: Ai. Den Hollander et al., Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12), NAT GENET, 23(2), 1999, pp. 217-221
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Probing the Gene eXpression Database for candidate genes
Authors: van Steensel, MAM Celli, J van Bokhoven, JH Brunner, HG
Citation: Mam. Van Steensel et al., Probing the Gene eXpression Database for candidate genes, EUR J HUM G, 7(8), 1999, pp. 910-919
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
Authors: de Kok, YJM Bom, SJH Brunt, TM Kemperman, MH van Beusekom, E van der Velde-Visser, SD Robertson, NG Morton, CC Huygen, PLM Verhagen, WIM Brunner, HG Cremers, CWRJ Cremers, FPM
Citation: Yjm. De Kok et al., A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects, HUM MOL GEN, 8(2), 1999, pp. 361-366
Risultati: 1-25 | 26-46