Works matching IS 09646906 AND DT 1992 AND VI 1 AND IP 1

Results: 22

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 7
By:
- Heutink, Peter;
- Mey, Andel G. L. van der;
- Sandkuijl, Lodewijk A.;
- Gils, Ad P. G. van;
- Bardoel, Alfons;
- Breedveld, Guido J.;
- Vliet, Margreethe van;
- Ommen, Gert-Jan B. van;
- Cornelisse, Cees J.;
- Oostra, Ben A.;
- Weber, Jim L.;
- Devilee, Peter
Publication type:
Article
Author index.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 69
Publication type:
Article
Tetranucleotide repeat polymorphism at the D21S11 locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 67
By:
- Sharma, V.;
- Litt, M.
Publication type:
Article
Dinucleotide repeat polymorphism at the GABAA receptor β3 (GABRB3) locus in the Angelman/Prader— Willi region (AS/PWS) of chromosome 15.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 67
By:
- Mutirangura, Apiwat;
- Ledbetter, Susan A.;
- Kuwano, Akira;
- Chinault, A.Craig;
- Ledbetter, David H.
Publication type:
Article
Dinucleotide repeat polymorphism in the THRA1 gene.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 66
By:
- Futreal, P.A.;
- Barrett, J.C.;
- Wiseman, R.W.
Publication type:
Article
Dinucleotide repeat polymorphism at the D6S223 locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 66
By:
- Bowcock, Anne;
- Osborne-Lawrence, Sherri;
- Barnes, Robert;
- Weiss, Leslie;
- Dunn, George
Publication type:
Article
A polymorphic microsatellite repeat is located close to the promotor region of the c-fgr proto-oncogene (FGR) at chromosome 1p36.2-p36.1.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 65
By:
- Patel, Mukesh S.;
- Mankoo, Baljinder S;
- Brickell, Paul M.
Publication type:
Article
Dinucleotide repeat polymorphism at the human c-myc oncogene locus (MYC).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 65
By:
- Polymeropoulos, Mihael H.;
- Xiao, Hong;
- Merril, Carl R.
Publication type:
Article
Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6).
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 64
By:
- Fougerousse, F.;
- Dufour, C.;
- Roudaut, C.;
- Beckmann, J. S.
Publication type:
Article
CEB 13 detects a VNTR locus (Het: 93%) on chromosome 7q.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 64
By:
- Lauthier, V.;
- Vergnaud, G.
Publication type:
Article
CEB 29 detects a VNTR locus (Het: 80%) on chromosome XY.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 63
By:
- Lauthier, V.;
- Buard, J.;
- Delattre, O.;
- Zucman, J.;
- Vergnaud, G.
Publication type:
Article
CEB 15 detects a VNTR locus (Het: 92%) on chromosome 1p.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 63
By:
- Lauthier, V.;
- Mariat, D.;
- Vergnaud, G.
Publication type:
Article
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 61
By:
- Zhang, Z.P.;
- Falk, G.;
- Blombäck, M.;
- Egberg, N.;
- Anvret, M.
Publication type:
Article
Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 53
By:
- Dorin, Julia R.;
- Emslie, Elizabeth;
- Hanratty, Diane;
- Farrall, Martin;
- Gosden, John;
- J.Porteous, David
Publication type:
Article
Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 47
By:
- H.Yen, Pauline;
- Ellison, Jay;
- Salido, Eduardo C.;
- Mohandas, Thuluvancheri;
- Shapiro, Larry
Publication type:
Article
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 41
By:
- Inglehearn, Chris F.;
- Keen, T. Jeffrey;
- Bashir, Rumaisa;
- Jay, Marcelle;
- Fitzke, Fred;
- C.Bird, Alan;
- Crombie, Alex;
- Bhattacharya, Shomi
Publication type:
Article
Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 35
By:
- J.Wells, Dominic;
- E.Wells, Kim;
- S.Walsh, Frank;
- E.Davies, Kay;
- Goldspink, Geoffrey;
- R.Love, Donald;
- Chan-Thomas, Penny;
- G.Dunckley, Matthew;
- Piper, Tony;
- Dickson, George
Publication type:
Article
Beginning or end? Telomere structure, genetics and biology.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 3
By:
- Kipling, David;
- Cooke, Howard J.
Publication type:
Article
Editorial.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 3
By:
- Davies, Kay E.;
- Willard, Huntington F.
Publication type:
Article
Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 29
By:
- Ma, K.;
- Sharkey, A.;
- Kirsch, S.;
- Vogt, P.;
- Keil, R.;
- Hargreave, T. B.;
- McBeath, S.;
- Chandley, A. C.
Publication type:
Article
Reconstruction of the 204 Mb human DMD-gene bhy homologous YAC recombination.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 19
By:
- Dunnen, J.T.Den;
- Grootscholten, P.M.;
- Dauwerse, J.G.;
- Walker, A.P.;
- Monaco, A.P.;
- Butler, R.;
- Anand, R.;
- Coffey, A.J.;
- Bentley, D.R.;
- Steensma, H.Y.;
- ommen, G.J.B.Van
Publication type:
Article
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 11
By:
- Jones, Cheryl T.;
- Mclntosh, lain;
- Keston, Marion;
- Ferguson, Anne;
- Brock, David J. H.
Publication type:
Article