Human Molecular Genetics

Articles

Get checked abstract Darren G. Monckton, Lee-Jun C. Wong, Tetsuo Ashizawa, and C. Thomas Caskey

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
Hum. Mol. Genet. 1995 4: 1-8; doi:10.1093/hmg/4.1.1 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Rivka Carmi, Tatiana Rokhlina, Anne E. Kwitek-Black, Khalil Elbedour, Darryl Nishimura, Edwin M. Stone, and Val C. Sheffield

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Hum. Mol. Genet. 1995 4: 9-13; doi:10.1093/hmg/4.1.9 [Abstract] [PDF] [Request Permissions]  

Get checked abstract O. Colin Stine, Shi-Hua Li, Nicole Pleasant, Molly V. Wagster, John C. Hedreen, and Christopher A. Ross

Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients
Hum. Mol. Genet. 1995 4: 15-18; doi:10.1093/hmg/4.1.15 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Elisabetta Verderio, Patrizia Cavadini, Laura Montermini, Haowei Wang, Eleonora Lamantea, Gaetano Finocchiaro, Stefano DiDonato, Cinzia Gellera, and Franco Taroni

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations
Hum. Mol. Genet. 1995 4: 19-29; doi:10.1093/hmg/4.1.19 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Hermann-Josef Lüdecke, Michael J.Wagner, Judith Nardmann, Biagio La Pillo, Julia E.Parrish, Patrick J.Willems, Eric A.Haan, Moshe Frydman, Guus J.H.Hamers, Dan E.Weils, and Bernhard Horsthemke

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome
Hum. Mol. Genet. 1995 4: 31-36; doi:10.1093/hmg/4.1.31 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Jean-Marc Frigerio, Patrice Berthézène, Patricia Garrido, Emilia Ortiz Sandrine Barthellemy, Sophie Vasseur, Bernard Sastre, Igor Seleznieff, Jean-Charles Dagorn, and Juan Lucio lovanna

Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing
Hum. Mol. Genet. 1995 4: 37-43; doi:10.1093/hmg/4.1.37 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Esther de Graaff, Patricia Rouillard, Patrick J.Willems, Arie P.T.Smits, Francois Rousseau, and Ben A.Oostra

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
Hum. Mol. Genet. 1995 4: 45-49; doi:10.1093/hmg/4.1.45 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Igor VoRechovsky, Mauno Vihinen, Geneviève de Saint Basile, Stanislava Honsová, Lennart Hammarström, Susanne Müller, Lennart Nilsson, Alain Fischer, and C.I.Edvard Smith

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia
Hum. Mol. Genet. 1995 4: 51-58; doi:10.1093/hmg/4.1.51 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Callum J.Bell, Marcia L.Budarf, Bart W.Nieuwenhuijsen, Barry L.Barnoski, Kenneth H.Buetow, Keely Campbell, Angela M.E.Colbert, Joelle Collins, Mark Daly, Philippe R.Desjardins, Todd DeZwaan, Barbara Eckman, Simon Foote, Kyle Hart, Kevin Hiester, Marius J.Van Het Hoog, Elizabeth Hopper, Alan Kaufman, Heather E.McDermid, G.Christian Overton, Mary Pat Reeve, David B.Searls, Lincoln Stein, Vinay H.Valmiki, Edward Watson, Sloan Williams, Rachel Winston, Robert L. Nussbaum, Eric S.Lander, Kenneth H.Fischbeck, Beverly S.Emanuel, and Thomas J.Hudson

Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers
Hum. Mol. Genet. 1995 4: 59-69; doi:10.1093/hmg/4.1.59 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Lisbet Lind, Herbert Sandström, Anders Wahlin, Mikael Eriksson, Birgitta Nilsson-Sojka, Carin Sikström, and Gösta Holmgren

Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25
Hum. Mol. Genet. 1995 4: 109-112; doi:10.1093/hmg/4.1.109 [Abstract] [PDF] [Request Permissions]  

Get checked abstract John Thacker, Cathryn E.Tambini, Paul J.Simpson, Lap-Chee Tsui, and Stephen W.Scherer

Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents
Hum. Mol. Genet. 1995 4: 113-120; doi:10.1093/hmg/4.1.113 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Angela F.Davles, Richard J.Stephens, Mark G.OIavesen, Lisa Heather, Michael J.Dixon, Alex Magee, Frances Flinter, and Jiannis Ragoussis

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region
Hum. Mol. Genet. 1995 4: 121-128; doi:10.1093/hmg/4.1.121 [Abstract] [PDF] [Request Permissions]  

Get checked abstract Susan M.Shanley, Hugh Dawkins, Brandon J.Wainwright, Carol Wicking, Peter Heenan, Michael Eldon, Jeffrey Searle, and Georgia Chenevlx-Trench

Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas
Hum. Mol. Genet. 1995 4: 129-133; doi:10.1093/hmg/4.1.129 [Abstract] [PDF] [Request Permissions]  

Esther P.Leeflang and Norman Arnhelm

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability
Hum. Mol. Genet. 1995 4: 135-136; doi:10.1093/hmg/4.1.135 [PDF] [Request Permissions]  

Jesús Sainz, Karla Figueroa, Michael E.Baser, Victor-F. Mautner, and Stefan-Matthias Pulst

High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons
Hum. Mol. Genet. 1995 4: 137-139; doi:10.1093/hmg/4.1.137 [PDF] [Request Permissions]  

David M. Brown, Kim Vandenburgh, Alan E. Kimura, Thomas A. Weingeist, Val C. Sheffield, and Edwin M. Stone

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
Hum. Mol. Genet. 1995 4: 141-142; doi:10.1093/hmg/4.1.141 [PDF] [Request Permissions]  

Heiko Wlebusch, paul Cullen, James S.Owen, David Collins, Patrick S.Sharp, Harald Funke, and Gerd Assmann

Deficiency of lecithin: cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
Hum. Mol. Genet. 1995 4: 143-145; doi:10.1093/hmg/4.1.143 [PDF] [Request Permissions]  

Author index
Hum. Mol. Genet. 1995 4: 147; doi:10.1093/hmg/4.1.147 [PDF] [Request Permissions]  

Author Index

Author index
Hum. Mol. Genet. 1995 4: 147; doi:10.1093/hmg/4.1.147 [PDF] [Request Permissions]  

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