Human Molecular Genetics

ARTICLES:

JR Vermeesch, P Petit, A Kermouni, JC Renauld, H Van Den Berghe, and P Marynen

The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y
Hum. Mol. Genet. 1997 6: 1-8; doi:10.1093/hmg/6.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Regnier, M Meddeb, G Lecointre, F Richard, A Duverger, VC Nguyen, B Dutrillaux, A Bernheim, and G Danglot

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
Hum. Mol. Genet. 1997 6: 9-16; doi:10.1093/hmg/6.1.9 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650]
Hum. Mol. Genet. 1997 6: 17-26; doi:10.1093/hmg/6.1.17 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Chaib, J Kaplan, S Gerber, C Vincent, H Ayadi, R Slim, A Munnich, J Weissenbach, and C Petit

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
Hum. Mol. Genet. 1997 6: 27-31; doi:10.1093/hmg/6.1.27 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Brass, D Heckel, U Sahin, M Pfreundschuh, GW Sybrecht, and E Meese

Translation initiation factor eIF-4gamma is encoded by an amplified gene and induces an immune response in squamous cell lung carcinoma
Hum. Mol. Genet. 1997 6: 33-39; doi:10.1093/hmg/6.1.33 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Lalueza, A Perez-Perez, E Prats, L Cornudella, and D Turbon

Lack of founding Amerindian mitochondrial DNA lineages in extinct aborigines from Tierra del Fuego-Patagonia
Hum. Mol. Genet. 1997 6: 41-46; doi:10.1093/hmg/6.1.41 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AC Ionides, V Berry, DS Mackay, AT Moore, SS Bhattacharya, and A Shiels

A locus for autosomal dominant posterior polar cataract on chromosome 1p
Hum. Mol. Genet. 1997 6: 47-51; doi:10.1093/hmg/6.1.47 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Bignell, G Micklem, MR Stratton, A Ashworth, and R Wooster

The BRC repeats are conserved in mammalian BRCA2 proteins
Hum. Mol. Genet. 1997 6: 53-58; doi:10.1093/hmg/6.1.53 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PJ Mogayzel, Jr, KA Henning, ML Bittner, EA Novotny, EM Schwiebert, WB Guggino, Y Jiang, and MA Rosenfeld

Functional human CFTR produced by stable Chinese hamster ovary cell lines derived using yeast artificial chromosomes
Hum. Mol. Genet. 1997 6: 59-68; doi:10.1093/hmg/6.1.59 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Broccoli, L Chong, S Oelmann, AA Fernald, N Marziliano, B van Steensel, D Kipling, MM Le Beau, and T de Lange

Comparison of the human and mouse genes encoding the telomeric protein, TRF1: chromosomal localization, expression and conserved protein domains
Hum. Mol. Genet. 1997 6: 69-76; doi:10.1093/hmg/6.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Hofferbert, NC Schanen, F Chehab, and U Francke

Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method
Hum. Mol. Genet. 1997 6: 77-83; doi:10.1093/hmg/6.1.77 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Teng, M Jorissen, H Van Poppel, E Legius, JJ Cassiman, and H Cuppens

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
Hum. Mol. Genet. 1997 6: 85-90; doi:10.1093/hmg/6.1.85 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Meyer, P Sudbeck, M Held, T Wagner, ML Schmitz, FD Bricarelli, E Eggermont, U Friedrich, OA Haas, A Kobelt, JG Leroy, L Van Maldergem, E Michel, B Mitulla, RA Pfeiffer, A Schinzel, H Schmidt, and G Scherer

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations
Hum. Mol. Genet. 1997 6: 91-98; doi:10.1093/hmg/6.1.91 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Schwartz, N Sorensen, FJ Hansen, JM Hertz, S Norby, L Tranebjaerg, and F Skovby

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
Hum. Mol. Genet. 1997 6: 99-104; doi:10.1093/hmg/6.1.99 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MG Dunlop, SM Farrington, AD Carothers, AH Wyllie, L Sharp, J Burn, B Liu, KW Kinzler, and B Vogelstein

Cancer risk associated with germline DNA mismatch repair gene mutations
Hum. Mol. Genet. 1997 6: 105-110; doi:10.1093/hmg/6.1.105 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Levy, F Levi-Acobas, S Blanchard, S Gerber, D Larget-Piet, V Chenal, XZ Liu, V Newton, KP Steel, SD Brown, A Munnich, J Kaplan, C Petit, and D Weil

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
Hum. Mol. Genet. 1997 6: 111-116; doi:10.1093/hmg/6.1.111 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

VC Sheffield, ME Pierpont, D Nishimura, JS Beck, TL Burns, MA Berg, EM Stone, SR Patil, and RM Lauer

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis
Hum. Mol. Genet. 1997 6: 117-121; doi:10.1093/hmg/6.1.117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Gladwin, D Donnai, K Metcalfe, C Schrander-Stumpel, L Brueton, A Verloes, A Aylsworth, H Toriello, R Winter, and M Dixon

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24
Hum. Mol. Genet. 1997 6: 123-127; doi:10.1093/hmg/6.1.123 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AJ Jeffreys and R Neumann

Somatic mutation processes at a human minisatellite
Hum. Mol. Genet. 1997 6: 129-132; doi:10.1093/hmg/6.1.129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Oldridge, PW Lunt, EH Zackai, DM McDonald-McGinn, M Muenke, DM Moloney, SR Twigg, JK Heath, TD Howard, G Hoganson, DM Gagnon, EW Jabs, and AO Wilkie

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2
Hum. Mol. Genet. 1997 6: 137-143; doi:10.1093/hmg/6.1.137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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