Human Molecular Genetics

Editorial:

Kay E. Davies and Huntington F. Willard

Editorial
Hum. Mol. Genet. 1992 1: 3; doi:10.1093/hmg/1.1.3 [PDF] [Request Permissions]  

MINI REVIEW:

David Kipling and Howard J. Cooke

Beginning or end? Telomere structure, genetics and biology
Hum. Mol. Genet. 1992 1: 3-6; doi:10.1093/hmg/1.1.3-a [Abstract] [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Peter Heutink, Andel G. L. van der Mey, Lodewijk A. Sandkuijl, Ad P. G. van Gils, Alfons Bardoel, Guido J. Breedveld, Margreethe van Vliet, Gert-Jan B. van Ommen, Cees J. Cornelisse, Ben A. Oostra, Jim L. Weber, and Peter Devilee

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
Hum. Mol. Genet. 1992 1: 7-10; doi:10.1093/hmg/1.1.7 [Abstract] [PDF] [Request Permissions]  

Cheryl T. Jones, lain Mclntosh, Marion Keston, Anne Ferguson, and David J. H. Brock

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation
Hum. Mol. Genet. 1992 1: 11-17; doi:10.1093/hmg/1.1.11 [Abstract] [PDF] [Request Permissions]  

J.T.Den Dunnen, P.M. Grootscholten, J.G. Dauwerse, A.P. Walker, A.P. Monaco, R. Butler, R. Anand, A.J. Coffey, D.R. Bentley, H.Y. Steensma, and G.J.B.Van ommen

Reconstruction of the 204 Mb human DMD-gene bhy homologous YAC recombination
Hum. Mol. Genet. 1992 1: 19-28; doi:10.1093/hmg/1.1.19 [Abstract] [PDF] [Request Permissions]  

K. Ma, A. Sharkey, S. Kirsch, P. Vogt, R. Keil, T. B. Hargreave, S. McBeath, and A. C. Chandley

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
Hum. Mol. Genet. 1992 1: 29-33; doi:10.1093/hmg/1.1.29 [Abstract] [PDF] [Request Permissions]  

Dominic J.Wells, Kim E.Wells, Frank S.Walsh, Kay E.Davies, Geoffrey Goldspink, Donald R.Love, Penny Chan-Thomas, Matthew G.Dunckley, Tony Piper, and George Dickson

Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice
Hum. Mol. Genet. 1992 1: 35-40; doi:10.1093/hmg/1.1.35 [Abstract] [PDF] [Request Permissions]  

Chris F. Inglehearn, T. Jeffrey Keen, Rumaisa Bashir, Marcelle Jay, Fred Fitzke, Alan C.Bird, Alex Crombie, and Shomi Bhattacharya

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa
Hum. Mol. Genet. 1992 1: 41-45; doi:10.1093/hmg/1.1.41 [Abstract] [PDF] [Request Permissions]  

Pauline H.Yen, Jay Ellison, Eduardo C. Salido, Thuluvancheri Mohandas, and Larry Shapiro

Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation
Hum. Mol. Genet. 1992 1: 47-52; doi:10.1093/hmg/1.1.47 [Abstract] [PDF] [Request Permissions]  

Julia R. Dorin, Elizabeth Emslie, Diane Hanratty, Martin Farrall, John Gosden, and David J.Porteous

Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting
Hum. Mol. Genet. 1992 1: 53-59; doi:10.1093/hmg/1.1.53 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Z.P. Zhang, G. Falk, M. Blombäck, N. Egberg, and M. Anvret

Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III
Hum. Mol. Genet. 1992 1: 61-62; doi:10.1093/hmg/1.1.61 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

V. Lauthier, D. Mariat, and G. Vergnaud

CEB 15 detects a VNTR locus (Het: 92%) on chromosome 1p
Hum. Mol. Genet. 1992 1: 63; doi:10.1093/hmg/1.1.63 [PDF] [Request Permissions]  

V. Lauthier, J. Buard, O. Delattre, J. Zucman, and G. Vergnaud

CEB 29 detects a VNTR locus (Het: 80%) on chromosome XY
Hum. Mol. Genet. 1992 1: 63; doi:10.1093/hmg/1.1.63-a [PDF] [Request Permissions]  

V. Lauthier and G. Vergnaud

CEB 13 detects a VNTR locus (Het: 93%) on chromosome 7q
Hum. Mol. Genet. 1992 1: 64; doi:10.1093/hmg/1.1.64 [PDF] [Request Permissions]  

F. Fougerousse, C. Dufour, C. Roudaut, and J. S. Beckmann

Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6)
Hum. Mol. Genet. 1992 1: 64; doi:10.1093/hmg/1.1.64-a [PDF] [Request Permissions]  

Mihael H. Polymeropoulos, Hong Xiao, and Carl R. Merril

Dinucleotide repeat polymorphism at the human c-myc oncogene locus (MYC)
Hum. Mol. Genet. 1992 1: 65; doi:10.1093/hmg/1.1.65 [PDF] [Request Permissions]  

Mukesh S. Patel, Baljinder S Mankoo, and Paul M. Brickell

A polymorphic microsatellite repeat is located close to the promotor region of the c-fgr proto-oncogene (FGR) at chromosome 1p36.2-p36.1
Hum. Mol. Genet. 1992 1: 65; doi:10.1093/hmg/1.1.65-a [PDF] [Request Permissions]  

Anne Bowcock, Sherri Osborne-Lawrence, Robert Barnes, Leslie Weiss, and George Dunn

Dinucleotide repeat polymorphism at the D6S223 locus
Hum. Mol. Genet. 1992 1: 66; doi:10.1093/hmg/1.1.66 [PDF] [Request Permissions]  

P.A. Futreal, J.C. Barrett, and R.W. Wiseman

Dinucleotide repeat polymorphism in the THRA1 gene
Hum. Mol. Genet. 1992 1: 66; doi:10.1093/hmg/1.1.66-a [PDF] [Request Permissions]  

Apiwat Mutirangura, Susan A. Ledbetter, Akira Kuwano, A.Craig Chinault, and David H. Ledbetter

Dinucleotide repeat polymorphism at the GABA_A receptor ß3 (GABRB3) locus in the Angelman/Prader— Willi region (AS/PWS) of chromosome 15
Hum. Mol. Genet. 1992 1: 67; doi:10.1093/hmg/1.1.67 [PDF] [Request Permissions]  

V. Sharma and M. Litt

Tetranucleotide repeat polymorphism at the D21S11 locus
Hum. Mol. Genet. 1992 1: 67; doi:10.1093/hmg/1.1.67-a [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1992 1: 69; doi:10.1093/hmg/1.1.69 [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.