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Results: 1-15 |
Results: 15
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)
Authors: Kayserili, H Cox, TC Cox, LL Basaran, S Kilic, G Ballabio, A Yuksel-Apak, M
Citation: H. Kayserili et al., Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS), J MED GENET, 38(6), 2001, pp. 411-417
Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients
Authors: Onay, T Zielenski, J Topaloglu, O Gokgoz, N Kayserili, H Apak, MY Camcioglu, Y Cokugras, H Akcakaya, N Tsui, LC Kirdar, B
Citation: T. Onay et al., Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients, HUMAN BIOL, 73(2), 2001, pp. 191-203
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
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
Authors: Ludecke, HJ Schaper, J Meinecke, P Momeni, P Gross, S von Holtum, D Hirche, H Abramowicz, MJ Albrecht, B Apacik, C Christen, HJ Claussen, U Devriendt, K Fastnacht, E Forderer, A Friedrich, U Goodship, THJ Greiwe, M Hamm, H Hennekam, RCM Hinkel, GK Hoeltzenbein, M Kayserili, H Majewski, F Mathieu, M McLeod, R Midro, AT Moog, U Nagai, T Niikawa, N Orstavik, KH Plochl, E Seitz, C Schmidtke, J Tranebjaerg, L Tsukahara, M Wittwer, B Zabel, B Gillessen-Kaesbach, G Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
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
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9
Authors: Demuth, I Wlodarski, M Tipping, AJ Morgan, NV de Winter, JP Thiel, M Grasl, S Schindler, D D'Andrea, AD Altay, C Kayserili, H Zatterale, A Kunze, J Ebell, W Mathew, CG Joenje, H Sperling, K Digweed, M
Citation: I. Demuth et al., Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9, EUR J HUM G, 8(11), 2000, pp. 861-868
Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children
Authors: Bilge, I Kayserili, H Emre, S Nayir, A Sirin, A Tukel, T Bas, F Kilic, G Basaran, S Gunoz, H Apak, M
Citation: I. Bilge et al., Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children, PED NEPHROL, 14(12), 2000, pp. 1111-1114
A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient
Authors: Tadmouri, GO Bilenoglu, O Kantarci, S Kayserili, H Perrin, P Basak, AN
Citation: Go. Tadmouri et al., A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient, AM J HEMAT, 63(4), 2000, pp. 223-225
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
Authors: Revy, P Muto, T Levy, Y Geissmann, F Plebani, A Sanal, O Catalan, N Forveille, M Dufourcq-Lagelouse, R Gennery, A Tezcan, I Ersoy, F Kayserili, H Ugazio, AG Brousse, N Muramatsu, M Notarangelo, LD Kinoshita, K Honjo, T Fischer, A Durandy, A
Citation: P. Revy et al., Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2), CELL, 102(5), 2000, pp. 565-575
Glycine to tryptophan substitution in type I collagen in a patient with OItype III: a unique collagen mutation
Authors: Nuytinck, L Tukel, T Kayserili, H Apak, MY De Paepe, A
Citation: L. Nuytinck et al., Glycine to tryptophan substitution in type I collagen in a patient with OItype III: a unique collagen mutation, J MED GENET, 37(5), 2000, pp. 371-375
Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients
Authors: Savas, S Gokgoz, N Kayserili, H Ozkinay, F Yuksel-Apak, M Kirdar, B
Citation: S. Savas et al., Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients, HUMAN HERED, 50(3), 2000, pp. 162-165
Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)
Authors: Eraslan, S Kayserili, H Apak, MY Kirdar, B
Citation: S. Eraslan et al., Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA), EUR J HUM G, 7(7), 1999, pp. 765-770
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Authors: Van Kuilenburg, ABP Vreken, P Abeling, NGGM Bakker, HD Meinsma, R Van Lenthe, H De Abreu, RA Smeitink, JAM Kayserili, H Apak, MY Christensen, E Holopainen, I Pulkki, K Riva, D Botteon, G Holme, E Tulinius, R Kleijer, WJ Beemer, FA Duran, M Niezen-Koning, KE Smit, GPA Jakobs, C Smit, LME Moog, U Spaapen, LJM Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency, HUM GENET, 104(1), 1999, pp. 1-9
17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
Authors: Boehmer, ALM Brinkmann, AO Sandkuijl, LA Halley, DJJ Niermeijer, MF Andersson, S de Jong, FH Kayserili, H de Vroede, MA Otten, BJ Rouwe, CW Mendonca, BB Rodrigues, C Bode, HH de Ruiter, PE Delemarre-van de Waal, HA Drop, SLS
Citation: Alm. Boehmer et al., 17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations, J CLIN END, 84(12), 1999, pp. 4713-4721
Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene
Authors: Onay, T Kayserili, H Apak, MY Kirdar, B
Citation: T. Onay et al., Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene, CLIN GENET, 55(1), 1999, pp. 63-64
Risultati: 1-15 |