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Results: 1-10 |
Results: 10
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)
Authors: Heiss, NS Megarbane, A Klauck, SM Kreuz, FR Makhoul, E Majewski, F Poustka, A
Citation: Ns. Heiss et al., One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC), GEN COUNSEL, 12(2), 2001, pp. 129-136
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
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
Authors: Wieczorek, D Krause, M Majewski, F Albrecht, B Horn, D Riess, O Gillessen-Kaesbach, G
Citation: D. Wieczorek et al., Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion, EUR J HUM G, 8(7), 2000, pp. 519-526
Methylation mosaicism of 5 '-(CGG)(n)-3 ' repeats in fragile X, premutation and normal individuals
Authors: Genc, B Muller-Hartmann, H Zeschnigk, M Deissler, H Schmitz, B Majewski, F von Gontard, A Doerfler, W
Citation: B. Genc et al., Methylation mosaicism of 5 '-(CGG)(n)-3 ' repeats in fragile X, premutation and normal individuals, NUCL ACID R, 28(10), 2000, pp. 2141-2152
Retinitis pigmentosa, renal insufficiency and Caroli syndrome: new association in a patient with Opitz trigonocephaly syndrome
Authors: Weber, P Kuwertz-Broking, E Majewski, F Zimmer, KP Bulla, M
Citation: P. Weber et al., Retinitis pigmentosa, renal insufficiency and Caroli syndrome: new association in a patient with Opitz trigonocephaly syndrome, KLIN PADIAT, 212(1), 2000, pp. 31-34
Lenz-Majewski hyperostotic dwarfism: Reexamination of the original patient
Authors: Majewski, F
Citation: F. Majewski, Lenz-Majewski hyperostotic dwarfism: Reexamination of the original patient, AM J MED G, 93(4), 2000, pp. 335-338
Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS)
Authors: Wieczorek, D Krause, M Majewski, F Albrecht, B Meinecke, P Riess, O Gillessen-Kaesbach, G
Citation: D. Wieczorek et al., Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS), J MED GENET, 37(10), 2000, pp. 798-804
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Authors: Bartsch, O Wagner, A Hinkel, GK Krebs, P Stumm, M Schmalenberger, B Bohm, S Balci, S Majewski, F
Citation: O. Bartsch et al., FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy, EUR J HUM G, 7(7), 1999, pp. 748-756
Mutation analysis of cove binding factor A1 in patients with cleidocranialdysplasia
Authors: Quack, I Vonderstrass, B Stock, M Aylsworth, AS Becker, A Brueton, L Lee, PJ Majewski, F Mulliken, JB Suri, M Zenker, M Mundlos, S Otto, F
Citation: I. Quack et al., Mutation analysis of cove binding factor A1 in patients with cleidocranialdysplasia, AM J HU GEN, 65(5), 1999, pp. 1268-1278
Risultati: 1-10 |