Human Molecular Genetics

ARTICLES:

S.L. Neuhausen, J. Swensen, Y. Miki, Q. Llu, S. Tavtiglan, D. Shattuck-Eidens, A. Kamb, M.R. Hobbs, J. Gingrich, H. Shizuya, U.-J. Kim, C. Cochran, P.A. Futreal, R.W. Wiseman, H.T. Lynch, P. Tonin, S. Narod, L. Cannon-Albright, M.H. Skolnick, and D.E. Goldgar

A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1
Hum. Mol. Genet. 1994 3: 1919-1926; doi:10.1093/hmg/3.11.1919 [Abstract] [PDF] [Request Permissions]  

Katrin Wenze, Stephan Felix, Franz X. KIeberi, Raff Brachold, Thomas Menke, Sebastian Schattke, Karl L. Schulte, Christiane Gläser, Klaus Rohde, Gert Baumann, and Astrid Speer

E-selectin polymorphism and atherosclerosis: an association study
Hum. Mol. Genet. 1994 3: 1935-1937; doi:10.1093/hmg/3.11.1935 [Abstract] [PDF] [Request Permissions]  

Isabelle Schuffeneker, Marc Billaud, Alain Calender, Béatrice Chambe, Nicole Ginet, Claude Calmettes, Elisabeth Modlglian, Gilbert M. Lenolr, and GETC

RET proto-oncogene mutations in French MEN 2A and FMTC families
Hum. Mol. Genet. 1994 3: 1939-1943; doi:10.1093/hmg/3.11.1939 [Abstract] [PDF] [Request Permissions]  

Jordl Casademont, Antonal Barrientos, Francese Cardellach, Agnes Rötlg, Josep-Maria Grau, Jullo Montoya, Belen Beltlran, Francisco Cervantes, Cirll Rozman, Xavier Estlvill, Alvaro Urbano-Marque, and Virginia Numes

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother
Hum. Mol. Genet. 1994 3: 1945-1949; doi:10.1093/hmg/3.11.1945 [Abstract] [PDF] [Request Permissions]  

Carol L. Stayton, Branka Dabovic, Massimo Gulisano, Jozef Gecz, VanIa Broccoll, Serenella Glovanazzl, Michela Bossolasco, Lucia Monaco, Sohalla Rastan, Edoardo BoncInelli, Marco E. Blanchil, and G. Giacomo Consalez

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase
Hum. Mol. Genet. 1994 3: 1957-1964; doi:10.1093/hmg/3.11.1957 [Abstract] [PDF] [Request Permissions]  

Michael Wehner, Paula R. Clemens, Andrew G. Engel, and Manfred W. Killmann

REPORTS: Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the subunit
Hum. Mol. Genet. 1994 3: 1983-1987; doi:10.1093/hmg/3.11.1983 [Abstract] [PDF] [Request Permissions]  

Carol A. Westbrook, Steven J. Chmura, Richard B. Arenas, Su Young Kim, and Glen Otto

Human APC gene expression in rodent colonic epithelium in vivo using liposomal gene delivery
Hum. Mol. Genet. 1994 3: 2005-2010; doi:10.1093/hmg/3.11.2005 [Abstract] [PDF] [Request Permissions]  

Anthony J. Brookes, Euan M. SIorach, Karen E. Morrison, Safia J. Qureshl, Derek Blake, Kay Davies, and David J. Porteous

Cloning the shared components of complex DNA resources
Hum. Mol. Genet. 1994 3: 2011-2017; doi:10.1093/hmg/3.11.2011 [Abstract] [PDF] [Request Permissions]  

Brenda J. Lawrence, Wolfgang Schwabe, Petra Kioschls, Johannes F. Coy, Annemarie Poustka, Miles B. Brennan, and Ute Hochgeschwender

Rapid identification of gene sequences for transcriptional map assembly by direct cDNA screening of genomic reference librairies
Hum. Mol. Genet. 1994 3: 2019-2023; doi:10.1093/hmg/3.11.2019 [Abstract] [PDF] [Request Permissions]  

Marion S. Buckwalter, Susan A. Cook, Muriel T. Davisson, W. Frost White, and Sally A. Camper

A frameshift mutation in the mouse ₁ glycine receptor gene (Gira1) results in progressive neurological symptoms and juvenile death
Hum. Mol. Genet. 1994 3: 2025-2030; doi:10.1093/hmg/3.11.2025 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Karen A.Jones, Donald M.Black, Melissa A.Brown, Beatrice L.Griffiths, Hans M.Nicolai, Julie A.Chambers, Marisa Bonjardim, Chun-Fang Xu, Marie Boyd, Robert MeFariane, Bernhard Korn, Annemarie Poustka, Michael A.North, Leo Schalkwyk, Hans Lehrach, and Ellen Solomon

The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase
Hum. Mol. Genet. 1994 3: 1927-1934; doi:10.1093/hmg/3.11.1927 [Abstract] [PDF] [Request Permissions]  

Michael D.McLean, Natalie Roy, Alexander E.MacKenzle, Maysoon Salih, Arthur H.M.Burghes, Louise Simard, Robert G.Kornelukw, Joh-E. lkeda, and Linda Surh

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with Type 1 spinal muscular atrophy
Hum. Mol. Genet. 1994 3: 1951-1956; doi:10.1093/hmg/3.11.1951 [Abstract] [PDF] [Request Permissions]  

Kazuhiro Kobayashi, Kunihiko Mlzuno, Akiko Hida, Rie Komakl, Keiko Tomita, Ikumi Matsushita, Mikio Namlki, Teruaki Iwamoto, Shohzoh Tamura, Shlgeru Minowada, and Yutaka Nakahori

PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis
Hum. Mol. Genet. 1994 3: 1965-1967; doi:10.1093/hmg/3.11.1965 [Abstract] [PDF] [Request Permissions]  

Takahiro Mori, Aklo Yanagisawa, Yato, Koh Mlura, Tetsuro Nishihira, Shozo Mori, and Yusuke Nakamura

Accumulation of genetic alterations during esophageal carcinogenesis
Hum. Mol. Genet. 1994 3: 1969-1971; doi:10.1093/hmg/3.11.1969 [Abstract] [PDF] [Request Permissions]  

Patcharee Lertrit, Robert M.L. Kapsa, M.J. Bernadette Jean-FRANCOLS, Dominic Thyagaraian, A.Salfuddin Noer, Sangkopt Marzukil, and Edward Byrne

Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction
Hum. Mol. Genet. 1994 3: 1973-1981; doi:10.1093/hmg/3.11.1973 [Abstract] [PDF] [Request Permissions]  

Johannes N. Spelbrink, Bernard A. Van Oost, and Coby Van den Bogert

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion
Hum. Mol. Genet. 1994 3: 1989-1997; doi:10.1093/hmg/3.11.1989 [Abstract] [PDF] [Request Permissions]  

Douglas J.WIIkln, Ray Bogaert, Ralph S. Lachman, David L.Rimoin, David R. Eyre, and Daniel H. Cohn

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia
Hum. Mol. Genet. 1994 3: 1999-2003; doi:10.1093/hmg/3.11.1999 [Abstract] [PDF] [Request Permissions]  

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