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Results: 1-21 |
Results: 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
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
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
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit
Authors: Meij, IC Koenderink, JB van Bokhoven, H Assink, KFH Groenestege, WT de Pont, JJHHM Bindels, RJM Monnens, LAH van den Heuvel, LPWJ Knoers, NVAM
Citation: Ic. Meij et al., Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit, NAT GENET, 26(3), 2000, pp. 265-266
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome (vol 25, pg 423, 2000)
Authors: van Bokhoven, H
Citation: H. Van Bokhoven, Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome (vol 25, pg 423, 2000), NAT GENET, 26(3), 2000, pp. 383-383
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
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
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
Authors: Zemni, R Bienvenu, T Vinet, MC Sefiani, A Carrie, A Billuart, P McDonell, N Couvert, P Francis, F Chafey, P Fauchereau, F Friocourt, G des Portes, V Cardona, A Frints, S Meindl, A Brandau, O Ronce, N Moraine, C van Bokhoven, H Ropers, HH Sudbrak, R Kahn, A Fryns, JP Beldjord, R Chelly, J
Citation: R. Zemni et al., A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation, NAT GENET, 24(2), 2000, pp. 167-170
Nail-patella syndrome: Identification of mutations in the LMX1B gene in Dutch families
Authors: Knoers, NVAM Bongers, EMHF van Beersum, SEC Lommen, EJP van Bokhoven, H Hol, FA
Citation: Nvam. Knoers et al., Nail-patella syndrome: Identification of mutations in the LMX1B gene in Dutch families, J AM S NEPH, 11(9), 2000, pp. 1762-1766
Expression of Rab small GTPases in epithelial Caco-2 cells: Rab21 is an apically located GTP-binding protein in polarised intestinal epithelial cells
Authors: Opdam, FJM Kamps, G Croes, H van Bokhoven, H Ginsel, LA Fransen, JAM
Citation: Fjm. Opdam et al., Expression of Rab small GTPases in epithelial Caco-2 cells: Rab21 is an apically located GTP-binding protein in polarised intestinal epithelial cells, EUR J CELL, 79(5), 2000, pp. 308-316
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
Authors: Bienvenu, T des Portes, V McDonell, N Carrie, A Zemni, R Couvert, P Ropers, HH Moraine, C van Bokhoven, H Fryns, JP Allen, K Walsh, CA Boue, J Kahn, A Chelly, J Beldjord, C
Citation: T. Bienvenu et al., Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation, AM J MED G, 93(4), 2000, pp. 294-298
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
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
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
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
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium
Authors: des Portes, V Beldjord, C Chelly, J Hamel, B Kremer, H Smits, A van Bokhoven, H Ropers, HH Claes, S Fryns, JP Ronce, N Gendrot, C Toutain, A Raynaud, M Moraine, C
Citation: V. Des Portes et al., X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium, AM J MED G, 85(3), 1999, pp. 263-265
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
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
The Opitz syndrome gene product, MID1, associates with microtubules
Authors: Schweiger, S Foerster, J Lehman, T Suckow, V Muller, YA Walter, G Davies, T Porter, H van Bokhoven, H Lunt, PW Traub, P Ropers, HH
Citation: S. Schweiger et al., The Opitz syndrome gene product, MID1, associates with microtubules, P NAS US, 96(6), 1999, pp. 2794-2799
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
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