Hum. Mol. Genet. -- Table of Contents (4 [12] )

Receive this page by email each issue: [Sign up for eTOCs]

Other Issues:
Contents: Volume 4, Number 12   December 1995   [Index by Author]

       ARTICLES

       REPORTS

       LINKAGE REPORTS

       MUTATION REPORTS

       Author index

       Corrigendum

       ERRATUM

       Annual Subject Index

       Annual Author Index

Find articles in this issue containing these words:
[Search ALL Issues]

Front Matter (PDF) | Back Matter (PDF)

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES:

Beth A. Sullivan and Stuart Schwartz: Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres
Hum. Mol. Genet. 1995 4: 2189-2197; doi:10.1093/hmg/4.12.2189 [Abstract] [PDF] [Request Permissions]

Evan E. Eichler, Holly A. Hammond, James N. Macpherson, Patricia A. Ward, and David L. Nelson: Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
Hum. Mol. Genet. 1995 4: 2199-2208; doi:10.1093/hmg/4.12.2199 [Abstract] [PDF] [Request Permissions]

Johannes F. Coy, Zdenek Sedlacek, Dietmar Bächner, Horst Hameister, Stefan Joos, Peter Lichter, Hajo Delius, and Annemarie Poustka: Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1
Hum. Mol. Genet. 1995 4: 2209-2218; doi:10.1093/hmg/4.12.2209 [Abstract] [PDF] [Request Permissions]

Yves Labelle, Jessica Zucman, Göran Stenman, Lars-Gunnar Kindblom, Jennifer Knight, Claude Turc-Carel, Barbara Dockhorn-Dworniczak, Nils Mandahl, Chantal Desmaze, Martine Peter, Alain Aurias, Olivier Delattre, and Gilles Thomas: Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation
Hum. Mol. Genet. 1995 4: 2219-2226; doi:10.1093/hmg/4.12.2219 [Abstract] [PDF] [Request Permissions]

REPORTS:

Darren K. Griffin, Michael A. Abruzzo, Elise A. Millie, Leon A. Sheean, Eleanor Feingold, Stephanie L. Sherman, and Terry J. Hassold: Non-disjunction in human sperm: evidence for an effect of increasing paternal age
Hum. Mol. Genet. 1995 4: 2227-2232; doi:10.1093/hmg/4.12.2227 [Abstract] [PDF] [Request Permissions]

Clinical Research Group for VHL in Japan: Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL
Hum. Mol. Genet. 1995 4: 2233-2237; doi:10.1093/hmg/4.12.2233 [Abstract] [PDF] [Request Permissions]

Minas Tzagournissakis, Christina O. Fesdjian, P. Shashidharan, and Andreas Plaitakis: Stability of the Huntington disease (CAG)n repeat in a late-onset form occurring on the Island of Crete
Hum. Mol. Genet. 1995 4: 2239-2243; doi:10.1093/hmg/4.12.2239 [Abstract] [PDF] [Request Permissions]

Sharon F. Suchy, Isabelle M. Olivos-Glander, and Robert L. Nussbaum: Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
Hum. Mol. Genet. 1995 4: 2245-2250; doi:10.1093/hmg/4.12.2245 [Abstract] [PDF] [Request Permissions]

Vidar M. Steen, Anders Molven, Nina Karin Aarskog, and Anne-Karin Gulbrandsen: Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene
Hum. Mol. Genet. 1995 4: 2251-2257; doi:10.1093/hmg/4.12.2251 [Abstract] [PDF] [Request Permissions]

Chun-Fang Xu, Melissa A. Brown, Julie A. Chambers, Beatrice Griffiths, Hans Nicolai, and Ellen Solomon: Distinct transcription start sites generate two forms of BRCA1 mRNA
Hum. Mol. Genet. 1995 4: 2259-2264; doi:10.1093/hmg/4.12.2259 [Abstract] [PDF] [Request Permissions]

Kenneth J. Abel, Junzhe Xu, Gui-Ying Yin, Robert H. Lyons, Miriam H. Meisler, and Barbara L. Weber: Mouse Brca1: localization, sequence analysis and identification of evolutionarily conserved domains
Hum. Mol. Genet. 1995 4: 2265-2273; doi:10.1093/hmg/4.12.2265 [Abstract] [PDF] [Request Permissions]

Shyam K. Sharan, Marie Wims, and Allan Bradley: Murine Brca1: sequence and significance for human missense mutations
Hum. Mol. Genet. 1995 4: 2275-2278; doi:10.1093/hmg/4.12.2275 [Abstract] [PDF] [Request Permissions]

M.Yvonne Alexander and Rosemary J. Akhurst: Liposome-mediated gene transfer and expression via the skin
Hum. Mol. Genet. 1995 4: 2279-2285; doi:10.1093/hmg/4.12.2279 [Abstract] [PDF] [Request Permissions]

Hiroshi Kawame, Stanley M. Gartler, and R.Scott Hansen: Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci
Hum. Mol. Genet. 1995 4: 2287-2293; doi:10.1093/hmg/4.12.2287 [Abstract] [PDF] [Request Permissions]

A. Kumar, R.S. Kandt, C. Wolpert, A.D. Roses, M.A. Pericak-Vance, and J.R. Gilbert: Mutation analysis of the TSC2 gene in an African-American family
Hum. Mol. Genet. 1995 4: 2295-2298; doi:10.1093/hmg/4.12.2295 [Abstract] [PDF] [Request Permissions]

Meng-Kian Tee, Dong Lin, Teruo Sugawara, John A. Holt, Yann Guiguen, Bruce Buckingham, Jerome F. Strauss, III, and Walter L. Miller: T $->$ A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
Hum. Mol. Genet. 1995 4: 2299-2305; doi:10.1093/hmg/4.12.2299 [Abstract] [PDF] [Request Permissions]

Jonathan M.J. Derry, Julie A. Kerns, and Uta Francke: RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain
Hum. Mol. Genet. 1995 4: 2307-2311; doi:10.1093/hmg/4.12.2307 [Abstract] [PDF] [Request Permissions]

Patricia A. Smanik, Tara L. Furminger, Ernest L. Mazzaferri, and Sissy M. Jhiang: Breakpoint characterization of the ret/PTC oncogene in human papillary thyroid carcinoma
Hum. Mol. Genet. 1995 4: 2313-2318; doi:10.1093/hmg/4.12.2313 [Abstract] [PDF] [Request Permissions]

M.Vittoria Schiaffino, Maria T. Bassi, Lucia Galli, Alessandra Renieri, Mirella Bruttini, Filomena De Nigris, Arthur A.B. Bergen, Stephen J. Charles, John R.W. Yates, Alfons Meindl, Richard A. Lewis, Richard A. King, and Andrea Ballabio: Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
Hum. Mol. Genet. 1995 4: 2319-2325; doi:10.1093/hmg/4.12.2319 [Abstract] [PDF] [Request Permissions]

Hidenori Kiyosawa, M.William Lensch, and Phillip F. Chance: Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP
Hum. Mol. Genet. 1995 4: 2327-2334; doi:10.1093/hmg/4.12.2327 [Abstract] [PDF] [Request Permissions]

Paola Luzi, Mohammad A. Rafi, and David A. Wenger: Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
Hum. Mol. Genet. 1995 4: 2335-2338; doi:10.1093/hmg/4.12.2335 [Abstract] [PDF] [Request Permissions]

Alfons Meindl, Maria Raquel S. Carvalho, Klaus Herrmann, Bettina Lorenz, Helene Achatz, Birgit Lorenz, Eckart Apfelstedt-Sylla, Bärbel Wittwer, Mark Ross, and Thomas Meitinger: A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
Hum. Mol. Genet. 1995 4: 2339-2346; doi:10.1093/hmg/4.12.2339 [Abstract] [PDF] [Request Permissions]

Katherine L. Dry, Micheala A. Aldred, Alexander J. Edgar, John Brown, Forbes D.C. Manson, Meng-Fatt Ho, Jane Prosser, Lee J. Hardwick, Alan A. Lennon, Kate Thomson, Margaret Van Keuren, David M. Kurnit, Alan C. Bird, Marcelle Jay, Anthony P. Monaco, and Alan F. Wright: Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)
Hum. Mol. Genet. 1995 4: 2347-2353; doi:10.1093/hmg/4.12.2347 [Abstract] [PDF] [Request Permissions]

Richard J. Davis, Jeannette L. Bennicelli, Roberto A. Macina, Lynn M. Nycum, Jaclyn A. Biegel, and Frederic G. Barr: Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma
Hum. Mol. Genet. 1995 4: 2355-2362; doi:10.1093/hmg/4.12.2355 [Abstract] [PDF] [Request Permissions]

Marc Cruts, Hubert Backhovens, Sheng-Yue Wang, Geert Van Gassen, Jessie Theuns, Chris De Jonghe, Anita Wehnert, Joke De Voecht, Goedele De Winter, Patrick Cras, Marc Bruyland, Nicole Datson, Jean Weissenbach, Johan T.den Dunnen, Jean-Jaques Martin, Lydia Hendriks, and Christine Van Broeckhoven: Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
Hum. Mol. Genet. 1995 4: 2363-2371; doi:10.1093/hmg/4.12.2363 [Abstract] [PDF] [Request Permissions]

Dominique Campion, Jean-Michel Flaman, Alexis Brice, Didier Hannequin, Bruno Dubois, Cosette Martin, Viviane Moreau, Françoise Charbonnier, Olivier Didierjean, Sandrine Tardieu, Christiane Penet, Michèle Puel, Florence Pasquier, François Le Doze, Gil Bellis, Alphonse Calenda, Roland Heilig, Maria Martinez, Jacques Mallet, Michel Bellis, Françoise Clerget-Darpoux, Yves Agid, and Thierry Frebourg: Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
Hum. Mol. Genet. 1995 4: 2373-2377; doi:10.1093/hmg/4.12.2373 [Abstract] [PDF] [Request Permissions]

Wolf Reik, Keith W. Brown, Helene Schneid, Yves Le Bouc, Wendy Bickmore, and Eamonn R. Maher: Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain
Hum. Mol. Genet. 1995 4: 2379-2385; doi:10.1093/hmg/4.12.2379 [Abstract] [PDF] [Request Permissions]

LINKAGE REPORTS:

Andrew G. Roberts, Sharon D. Whatley, Jo Daniels, Peter Holmans, lain Fenton, Michael J. Owen, Peter Thompson, Colin Long, and George H. Elder: Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
Hum. Mol. Genet. 1995 4: 2387-2390; doi:10.1093/hmg/4.12.2387 [Abstract] [PDF] [Request Permissions]

Pawan K. Jain, Kunihiro Fukushima, Dilip Deshmukh, Arabandi Ramesh, Elizabeth Thomas, Anil K. Lalwani, Subrinder Kumar, Barbara Ploplis, Hana Skarka, C.R.Srikumari Srisailapathy, Sigrid Wayne, Ross I.S. Zbar, Ishwar C. Verma, Richard J.H. Smith, and Edward R. Wilcox: A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus
Hum. Mol. Genet. 1995 4: 2391-2394; doi:10.1093/hmg/4.12.2391 [Abstract] [PDF] [Request Permissions]

N.Michael G. Toma, Neil D. Ebenezer, Chris F. Inglehearn, Catherine Plant, Linda A. Ficker, and Shomi S. Bhattacharya: Linkage of congenital hereditary endothelial dystrophy to chromosome 20
Hum. Mol. Genet. 1995 4: 2395-2398; doi:10.1093/hmg/4.12.2395 [Abstract] [PDF] [Request Permissions]

Eugene Healy, Susan C. Holmes, Christine E. Belgaid, Anthea M. Stephenson, W.H.Irwin McLean, Jonathan L. Rees, and Colin S. Munro: A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Hum. Mol. Genet. 1995 4: 2399-2402; doi:10.1093/hmg/4.12.2399 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Igor Vorechovsky, Liping Luo, Geneviève de Saint Basile, Lennart Hammarström, A.David B. Webster, and C.I.Edvard Smith: Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase
Hum. Mol. Genet. 1995 4: 2403-2405; doi:10.1093/hmg/4.12.2403 [PDF] [Request Permissions]

Tania Attié, Marianne Till, Anna Pelet, Jeanne Amiel, Patrick Edery, Laetitia Boutrand, Arnold Munnich, and Stanislas Lyonnet: Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
Hum. Mol. Genet. 1995 4: 2407-2409; doi:10.1093/hmg/4.12.2407 [PDF] [Request Permissions]

Franklin Quan, Joanne Janas, and Bradley W. Popovich: A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1
Hum. Mol. Genet. 1995 4: 2411-2413; doi:10.1093/hmg/4.12.2411 [PDF] [Request Permissions]

Ute Felbor, Heidl Stöhr, Thomas Amann, Ulrich Schönherr, and Bernhard H.F. Weber: A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
Hum. Mol. Genet. 1995 4: 2415-2416; doi:10.1093/hmg/4.12.2415 [PDF] [Request Permissions]

Annie Levy, Suzanne Demczuk, Alain Aurias, Danièle Depétris, Marie-Geneviève Mattei, and Nicole Philip: Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
Hum. Mol. Genet. 1995 4: 2417-2419; doi:10.1093/hmg/4.12.2417 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1995 4: 2421; doi:10.1093/hmg/4.12.2421 [PDF] [Request Permissions]

Corrigendum:

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: 2423; doi:10.1093/hmg/4.12.2423 [Abstract] [PDF] [Request Permissions]

ERRATUM:

Roger A. Bascom, Lin Liu, John R. Heckenlively, Edwin M. Stone, and Roderick R. Mclnnes: Mutation analysis of the ROM1 gene in retinitis pigmentosa
Hum. Mol. Genet. 1995 4: 2424; doi:10.1093/hmg/4.12.2424 [Abstract] [PDF] [Request Permissions]

Annual Subject Index:

: Subject Index
Hum. Mol. Genet. 1995 4: 2425-2435; doi:10.1093/hmg/4.12.2425 [PDF] [Request Permissions]

Annual Author Index:

: Author index
Hum. Mol. Genet. 1995 4: 2436-2444; doi:10.1093/hmg/4.12.2436 [PDF] [Request Permissions]

Human Molecular Genetics