Human Molecular Genetics

ARTICLES:

Ute Schell, Andreas Hehr, George J. Feldman, Nathaniel H. Robin, Elaine H. Zackai, Christine de Die-Smulders, David H. Viskochil, Janet M. Stewart, Gerhard Wolff, Hirofumi Ohashi, R. Arlen Price, M.Michael Cohen, Jr., and Maximilian Muenke

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
Hum. Mol. Genet. 1995 4: 323-328; doi:10.1093/hmg/4.3.323 [Abstract] [PDF] [Request Permissions]  

Hart G. W. Lidov, Sara Selig, and Louis M. Kunkel

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
Hum. Mol. Genet. 1995 4: 329-335; doi:10.1093/hmg/4.3.329 [Abstract] [PDF] [Request Permissions]  

Reiner Caspari, Sylciane Olschwang, Waltraut Friedl, Marion Mandl, Cécile Boisson, Thorsten Böker, Albert Augustin, Martina Kadmon, Gabriela Möslein, Gilles Thomas, and Peter Propping

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
Hum. Mol. Genet. 1995 4: 337-340; doi:10.1093/hmg/4.3.337 [Abstract] [PDF] [Request Permissions]  

Tatsuya Ogawa, Shunji Tomatsu, Seiji Fukuda, Atsushi Yamagishi, Golam Md. Maruf Rezvi, Kazuko Sukegawa, Neomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, and Tadao Orii

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene
Hum. Mol. Genet. 1995 4: 341-349; doi:10.1093/hmg/4.3.341 [Abstract] [PDF] [Request Permissions]  

Melissa Little, Gregory Holmes, Wendy Bickmore, Veronica van Heyningen, Nicholas Hastie, and Brandon Wainwright

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations
Hum. Mol. Genet. 1995 4: 351-358; doi:10.1093/hmg/4.3.351 [Abstract] [PDF] [Request Permissions]  

Martin Hergersberg, Koichi Matsuo, Max Gassmann, Walter Schaffner, Bernhard Lüscher, Thomas Rülicke, and Adriano Aguzzi

Tissue-specific expression of a FMR1/ß-galactosidase fusion gene in transgenic mice
Hum. Mol. Genet. 1995 4: 359-366; doi:10.1093/hmg/4.3.359 [Abstract] [PDF] [Request Permissions]  

J.K. Nancarrow, K. Holman, M. Mangelsdorf, T. Hori, M. Denton, G.R. Sutherland, and R.I. Richards

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus
Hum. Mol. Genet. 1995 4: 367-372; doi:10.1093/hmg/4.3.367 [Abstract] [PDF] [Request Permissions]  

M.Vittoria Schiaffino, Maria T. Bassi, Elena I. Rugarli, Alessandra Renieri, Lucia Galli, and Andrea Ballabio

Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region
Hum. Mol. Genet. 1995 4: 373-382; doi:10.1093/hmg/4.3.373 [Abstract] [PDF] [Request Permissions]  

Véronique Blanquet, Catherine Turleau, Marie Sylvie Gross-Morand, Catherine Sénamaud-Beaufort, François Doz, and Claude Besmond

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma
Hum. Mol. Genet. 1995 4: 383-388; doi:10.1093/hmg/4.3.383 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Robert Daniels, Thannasis Kinis, Paul Serhal, and Marilyn Monk

Expression of the myotonin protein kinase gene in preimplantation human embryos
Hum. Mol. Genet. 1995 4: 389-393; doi:10.1093/hmg/4.3.389 [Abstract] [PDF] [Request Permissions]  

Farideh Z. Bischoff, Gerald L. Feldman, Christopher McCaskill, Stephanie Subramanian, Mark R. Hughes, and Lisa G. Shaffer

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndrome
Hum. Mol. Genet. 1995 4: 395-399; doi:10.1093/hmg/4.3.395 [Abstract] [PDF] [Request Permissions]  

Mayana Zatz, Maria Rita Passos-Bueno, Antonia Cerqueira, Suely K. Marie, Mariz Vainzof, and Rita C.M. Pavanello

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
Hum. Mol. Genet. 1995 4: 401-406; doi:10.1093/hmg/4.3.401 [Abstract] [PDF] [Request Permissions]  

Luis P. Cid, Charhzad Montrose-Rafizadeh, David I. Smith, William B. Guggino, and Garry R. Cutting

Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues
Hum. Mol. Genet. 1995 4: 407-413; doi:10.1093/hmg/4.3.407 [Abstract] [PDF] [Request Permissions]  

Judy Fantes, Bert Redeker, Matthew Breen, Shelagh Boyle, John Brown, Judy Fletcher, Sinead Jones, Wendy Bickmore, Yoshimitsu Fukushima, Marcel Mannens, Sarah Danes, Veronica van Heyningen, and Isabel Hanson

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
Hum. Mol. Genet. 1995 4: 415-422; doi:10.1093/hmg/4.3.415 [Abstract] [PDF] [Request Permissions]  

Maureen Martin, Dean Mann, and Mary Carrington

Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes
Hum. Mol. Genet. 1995 4: 423-428; doi:10.1093/hmg/4.3.423 [Abstract] [PDF] [Request Permissions]  

Bernard Brais, Ya-Gang Xie, Marc Sanson, Kenneth Morgan, Jean Weissenbach, Amos D. Korczyn, Sergiu C. Blumen, Michel Fardeau, Fernando M.S. Tomé, Jean-Pierre Bouchard, and Guy A. Rouleau

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac and ß myosin heavy chain genes on chromosome 14q11.2–q13
Hum. Mol. Genet. 1995 4: 429-434; doi:10.1093/hmg/4.3.429 [Abstract] [PDF] [Request Permissions]  

Anu Jalanko, Tuula Manninen, and Leena Paltonen

Deletion of the C-terminal end of aspartylgiucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement
Hum. Mol. Genet. 1995 4: 435-441; doi:10.1093/hmg/4.3.435 [Abstract] [PDF] [Request Permissions]  

Kent W. Small, Mike Stalvey, Lucretia Fisher, Lynne Mullen, Cynthia Dickel, Kevin Beadles, Robert Reimer, Alan Lessner, Karen Lewis, and Margaret Pericak-Vance

Blepharophimosis syndrome is linked to chromosome 3q
Hum. Mol. Genet. 1995 4: 443-448; doi:10.1093/hmg/4.3.443 [Abstract] [PDF] [Request Permissions]  

Jan Dubovsky, Val C. Sheffield, Geoffrey M. Duyk, and James L. Weber

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome
Hum. Mol. Genet. 1995 4: 449-452; doi:10.1093/hmg/4.3.449 [Abstract] [PDF] [Request Permissions]  

Jan Dubovsky, Joseph M. Zabramski, Janice Kurth, Robert F. Spetzier, Steven S. Rich, Harry T. Orr, and James L. Weber

A gene responsible for cavernous malformations of the brain maps to chromosome 7q
Hum. Mol. Genet. 1995 4: 453-458; doi:10.1093/hmg/4.3.453 [Abstract] [PDF] [Request Permissions]  

V. Allamand, O. Broux, N. Bourg, I. Richard, J.A. Tischfield, M.E. Hodes, P.M. Conneally, M. Fardeau, C.E. Jackson, and J.S. Beckmann

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus
Hum. Mol. Genet. 1995 4: 459-463; doi:10.1093/hmg/4.3.459 [Abstract] [PDF] [Request Permissions]  

Yuh-Shan Jou and Richard M. Myers

Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein
Hum. Mol. Genet. 1995 4: 465-469; doi:10.1093/hmg/4.3.465 [Abstract] [PDF] [Request Permissions]  

David H. Gutmann, Douglas E. Wright, Robert T. Geist, and William D. Snider

Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development
Hum. Mol. Genet. 1995 4: 471-478; doi:10.1093/hmg/4.3.471 [Abstract] [PDF] [Request Permissions]  

Ragnheidur Fossdal, Loftur Magnússon, James L. Weber, and Ólafur Jensson

Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15
Hum. Mol. Genet. 1995 4: 479-483; doi:10.1093/hmg/4.3.479 [Abstract] [PDF] [Request Permissions]  

Elise Héon, William D. Mathers, L.M.Alward Alward, Robert W. Weisenthal, Sara L.F. Sunden, Jill A. Fishbaugh, Chris M. Taylor, Jay H. Krachmer, Val C. Sheffield, and Edwin M. Stone

Linkage of posterior polymorphous corneal dystrophy to 20q11
Hum. Mol. Genet. 1995 4: 485-488; doi:10.1093/hmg/4.3.485 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Alfons Meindl, Bright Lorenz, Helene Achatz, Heide Hellebrand, Peter Schmitz-Valckenberg, and Thomas Meitinger

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease
Hum. Mol. Genet. 1995 4: 489-490; doi:10.1093/hmg/4.3.489 [PDF] [Request Permissions]  

M. Ikeda, K. Abe, M. Ogasawara, T. Kameya, M. Watanabe, M. Shoji, S. Hirai, and Y. Itoyama

A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis
Hum. Mol. Genet. 1995 4: 491-492; doi:10.1093/hmg/4.3.491 [PDF] [Request Permissions]  

Cheryl R. Greenberg, David Reimer, Rupinder Singal, Barbara Triggs-Raine, Albert E. Chudley, Louise A. Dilling, Sylvia Philipps, James C. Haworth, Lorne E. Seargeant, and Stephen I. Goodman

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I
Hum. Mol. Genet. 1995 4: 493-495; doi:10.1093/hmg/4.3.493 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1995 4: 497; doi:10.1093/hmg/4.3.497 [PDF] [Request Permissions]  

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