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Results: 1-12 |
Results: 12
X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes
Authors: Mumm, S Herrera, L Waeltz, PW Scardovi, A Nagaraja, R Esposito, T Schlessinger, D Rocchi, M Forabosco, A
Citation: S. Mumm et al., X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes, GENOMICS, 76(1-3), 2001, pp. 30-36
Hypophosphatasia: Molecular diagnosis of Rathbun's original case
Authors: Mumm, S Jones, J Finnegan, P Whyte, MP
Citation: S. Mumm et al., Hypophosphatasia: Molecular diagnosis of Rathbun's original case, J BONE MIN, 16(9), 2001, pp. 1724-1727
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin
Authors: Mumm, S Zhang, XF Gottesman, GS McAlister, WH Whyte, MP
Citation: S. Mumm et al., Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin, J BONE MIN, 16(12), 2001, pp. 2245-2250
The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site
Authors: Mumm, S Zhang, XF Vacca, M D'Esposito, M Whyte, MP
Citation: S. Mumm et al., The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site, GENE, 273(2), 2001, pp. 285-293
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred
Authors: Mumm, S Christie, PT Finnegan, P Jones, J Dixon, PH Pannett, AAJ Harding, B Gottesman, GS Thakker, RV Whyte, MP
Citation: S. Mumm et al., A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred, J CLIN END, 85(9), 2000, pp. 3343-3347
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases
Authors: Esposito, T Gianfrancesco, F Ciccodicola, A Montanini, L Mumm, S D'Urso, M Forabosco, A
Citation: T. Esposito et al., A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases, HUM MOL GEN, 8(1), 1999, pp. 61-67
Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region
Authors: Vacca, M Matarazzo, MR Jones, J Spalluto, C Archidiacono, N Ma, P Rocchi, M D'Urso, M Chen, EY D'Esposito, M Mumm, S
Citation: M. Vacca et al., Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region, GENOMICS, 62(2), 1999, pp. 293-296
Integrated STS YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059)
Authors: Srivastava, AK McMillan, S Jermak, C Shomaker, M Copeland-Yates, SA Sossey-Alaoui, K Mumm, S Schlessinger, D Nagaraja, R
Citation: Ak. Srivastava et al., Integrated STS YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059), GENOMICS, 58(2), 1999, pp. 188-201
Transcription map of Xq27: Candidates for several X-linked diseases
Authors: Zucchi, I Jones, J Affer, M Montagna, C Redolfi, E Susani, L Vezzoni, P Parvari, R Schlessinger, D Whyte, MP Mumm, S
Citation: I. Zucchi et al., Transcription map of Xq27: Candidates for several X-linked diseases, GENOMICS, 57(2), 1999, pp. 209-218
Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth
Authors: Parvari, R Mumm, S Galil, A Manor, E Bar-David, Y Carmi, R
Citation: R. Parvari et al., Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth, AM J MED G, 83(4), 1999, pp. 302-307
Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2
Authors: Redolfi, E Pizzuti, A Di Bacco, A Susani, L Labella, T Affer, M Montagna, C Reinbold, R Mumm, S Vezzoni, P Zucchi, I
Citation: E. Redolfi et al., Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2, FEBS LETTER, 446(2-3), 1999, pp. 273-277
Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus
Authors: Redolfi, E Montagna, C Mumm, S Affer, M Susani, L Reinbold, R Hol, F Vezzoni, P Cimino, M Zucchi, I
Citation: E. Redolfi et al., Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus, DNA CELL B, 17(12), 1998, pp. 1009-1016
Risultati: 1-12 |