Human Molecular Genetics

ORIGINAL ARTICLES:

Frans P.M. Cremers, Catherine M. Molloy, Dorien J.R. van de Pol, José A.J.M.van den Hurk, Irene Bach, Ad H.M.Geurts van Kessel, and Hans-Hilger Ropers

An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1q
Hum. Mol. Genet. 1992 1: 71-75; doi:10.1093/hmg/1.2.71 [Abstract] [PDF] [Request Permissions]  

Stephen J. Tucker, David Tannahill, and Christopher F. Higgins

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
Hum. Mol. Genet. 1992 1: 77-82; doi:10.1093/hmg/1.2.77 [Abstract] [PDF] [Request Permissions]  

K.B. Sims, R.V. Lebo, G. Benson, C. Shalish, D. Schuback, Z.Y. Chen, G. Bruns, I.W. Craig, M.S. Golbus, and X.O. Breakefield

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
Hum. Mol. Genet. 1992 1: 83-89; doi:10.1093/hmg/1.2.83 [Abstract] [PDF] [Request Permissions]  

S.M. Adams, N.R. Helps, M.G.F. Sharp, W.J. Brammar, R.A. Walker, and J.M. Varley

Isolation and characterization of a novel gene with differential expression in benign and malignant human breast tumours
Hum. Mol. Genet. 1992 1: 91-96; doi:10.1093/hmg/1.2.91 [Abstract] [PDF] [Request Permissions]  

Aïda B. Metzenberg and Jane Gitschier

The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene
Hum. Mol. Genet. 1992 1: 97-101; doi:10.1093/hmg/1.2.97 [Abstract] [PDF] [Request Permissions]  

Derek J. Blake, Donald R. Love, Jonathon Tinsley, Glenn E. Morris, Helen Turley, Kevin Gatter, George Dickson, Yvonne H. Edwards, and Kay E. Davies

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells
Hum. Mol. Genet. 1992 1: 103-109; doi:10.1093/hmg/1.2.103 [Abstract] [PDF] [Request Permissions]  

Grant R. Sutherland and Elizabeth Baker

Characterisation of a new rare fragile site easily confused with the fragile X
Hum. Mol. Genet. 1992 1: 111-113; doi:10.1093/hmg/1.2.111 [Abstract] [PDF] [Request Permissions]  

F. Muscatelli, D. Lena, M.G. Mettei, and M. Fontes

A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression
Hum. Mol. Genet. 1992 1: 115-119; doi:10.1093/hmg/1.2.115 [Abstract] [PDF] [Request Permissions]  

Danilo A. Tagle and Francis S. Collins

An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids
Hum. Mol. Genet. 1992 1: 121-122; doi:10.1093/hmg/1.2.121 [PDF] [Request Permissions]  

MUTATION REPORTS:

Jeremy P. Cheadle, Alison L. Meredith, and Layla N. Al-Jader

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene
Hum. Mol. Genet. 1992 1: 123-125; doi:10.1093/hmg/1.2.123 [PDF] [Request Permissions]  

Alessandra Renieri, Marco Seri, Jeanne C. Myers, Taina pihlajaniemi, Laura Massella, Gianfranco Rizzoni, and Mario De Marchi

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome
Hum. Mol. Genet. 1992 1: 127-129; doi:10.1093/hmg/1.2.127 [Abstract] [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

Michael H. Jones, Kazuhiro Yamakawa, and Yusuke Nakamura

Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p
Hum. Mol. Genet. 1992 1: 131-133; doi:10.1093/hmg/1.2.131 [Abstract] [PDF] [Request Permissions]  

D.D. Chi, A.V. Hing, C. Helms, T. Steinbrueck, Santosh K. Mishra, and Helen Donis-Keller

Two chromosome 7 dinucleotide repeat polymorphisms at gene loci epidermal growth factor receptor (EGFR) and pro2 (1) collagen (COL1A2)
Hum. Mol. Genet. 1992 1: 135; doi:10.1093/hmg/1.2.135 [PDF] [Request Permissions]  

C.A. Warlick, S. Ramachandra, S. Mishra, and H. Donis-Keller

Dinucleotide repeat polymorphism at the human cardiac ß-myosin heavy chain gene (HMSYHCO1) locus
Hum. Mol. Genet. 1992 1: 136; doi:10.1093/hmg/1.2.136 [PDF] [Request Permissions]  

R. Anker, T. Steinbrueck, and H. Donis-Keller

Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus
Hum. Mol. Genet. 1992 1: 137; doi:10.1093/hmg/1.2.137 [PDF] [Request Permissions]  

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

Dinucleotide repeat polymorphism at the D1S167 locus
Hum. Mol. Genet. 1992 1: 138; doi:10.1093/hmg/1.2.138 [PDF] [Request Permissions]  

W. Thomas and D. Drayna

A polymorphic dinucleotide repeat in intron 1 of the human tissue plasminogen activator gene
Hum. Mol. Genet. 1992 1: 138; doi:10.1093/hmg/1.2.138-a [PDF] [Request Permissions]  

R.C. Levitt, A.E. Jedlicka, and N. Nouri

Dinucleotide repeat polymorphism at the hormone sensitive lipase (LIPE) locus
Hum. Mol. Genet. 1992 1: 139; doi:10.1093/hmg/1.2.139 [PDF] [Request Permissions]  

A. Mutirangura, A. Kuwano, S.A. Ledbetter, A.C. Chinault, and D.H. Ledbetter

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader—Willi region (AS/PWS) of chromosome 15
Hum. Mol. Genet. 1992 1: 139; doi:10.1093/hmg/1.2.139-a [PDF] [Request Permissions]  

I. Giannakudis, K.Wolf Von Gudenberg, C. Heid, and K.H. Grzeschik

A series of hypervariable minisatellites at the D7S464 locus
Hum. Mol. Genet. 1992 1: 140; doi:10.1093/hmg/1.2.140 [PDF] [Request Permissions]  

Angelika Bodenteich, Lloyd G. Mitchell, Mihael H. Polymeropoulos, and Carl R. Merril

Dinucleotide repeat in the human mitochondrial D-loop
Hum. Mol. Genet. 1992 1: 140; doi:10.1093/hmg/1.2.140-a [PDF] [Request Permissions]  

Larry D. Overbeck, Michael D. Weston, William J. Kimberling, and Daniel H. Johnson

A new highly polymorphic dinucleotide (CT)_n repeat polymorphism D1S158 on chromsome 1q isolated by microdissection
Hum. Mol. Genet. 1992 1: 141; doi:10.1093/hmg/1.2.141 [PDF] [Request Permissions]  

L. Ozelius, D.E. Schuback, K. Stefansson, S. Slaugenhaupt, J.F. Gusella, and X.O. Breakefield

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34
Hum. Mol. Genet. 1992 1: 141; doi:10.1093/hmg/1.2.141-a [PDF] [Request Permissions]  

T. Lerner, G. Wright, and G. Landes

Probe D16S273 detects a Pstl RFLP with 8 alleles
Hum. Mol. Genet. 1992 1: 142; doi:10.1093/hmg/1.2.142 [PDF] [Request Permissions]  

S.A.M. Taylor, G.T. Barnes, M.E. MacDonald, and J.F. Gusella

A dinucleotide repeat polymorphism at the D4S127 locus
Hum. Mol. Genet. 1992 1: 142; doi:10.1093/hmg/1.2.142-a [PDF] [Request Permissions]  

D. Hughes, J. Brown, J. Hardy, and M. C. Chartier-Harlin

A polymorphic dinucleotide repeat in intron 2 of the human cystatin-C gene
Hum. Mol. Genet. 1992 1: 143; doi:10.1093/hmg/1.2.143 [PDF] [Request Permissions]  

Author index
Hum. Mol. Genet. 1992 1: 145; doi:10.1093/hmg/1.2.145 [PDF] [Request Permissions]  

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