Hum. Mol. Genet. -- Table of Contents (4 [9] )

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Contents: Volume 4, Number 9   September 1995   [Index by Author]

       ARTICLES

       REPORTS

       ORIGINAL ARTICLES

       LINKAGE REPORTS

       MUTATION REPORTS

       Author index

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ARTICLES:

Austin Richard C., Perry L. Howard, Vinita N D'Souza, Henry J. Klamut, and Peter N. Ray: Cloning and characterization of alternatively spliced isoforms of Dp71
Hum. Mol. Genet. 1995 4: 1475-1483; doi:10.1093/hmg/4.9.1475 [Abstract] [PDF] [Request Permissions]

W.S. Watkins, M. Bamshad, and L.B. Jorde: Population genetics of trinucleotide repeat polymorphisms
Hum. Mol. Genet. 1995 4: 1485-1491; doi:10.1093/hmg/4.9.1485 [Abstract] [PDF] [Request Permissions]

Stephen I.Goodman, Lisa E. Kratz, Kathleen A. DiGiulio, Barbara J. Biery, Karen E. Goodman, Grazia Isaya, and Frank E. Frerman: Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
Hum. Mol. Genet. 1995 4: 1493-1498; doi:10.1093/hmg/4.9.1493 [Abstract] [PDF] [Request Permissions]

Patricia Tsang, Frederic Gilles, Luwa Yuan, Yu-Hung Kuo, Floria Lupu, Ghassan Samara, Josh Moosikasuwan, Andre Goye, Andrew D. Zelenetz, Licia Selleri, and Benjamin Tycko: A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues
Hum. Mol. Genet. 1995 4: 1499-1507; doi:10.1093/hmg/4.9.1499 [Abstract] [PDF] [Request Permissions]

Flora Tassone, Hongxia Xu, Heather Burkin, Sherman Weissman, and Katheleen Gardiner: CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization
Hum. Mol. Genet. 1995 4: 1509-1518; doi:10.1093/hmg/4.9.1509 [Abstract] [PDF] [Request Permissions]

Esther P.Leeflang, Lin Zhang, Simon Tavare, Rene Hubert, Jayalakshmi Srinidhi, Marcy E.MacDonald, Richard H.Myers, Margot de Young, Nancy S.Wexler, James F.Gusella, and Norman Arnheim: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum
Hum. Mol. Genet. 1995 4: 1519-1526; doi:10.1093/hmg/4.9.1519 [Abstract] [PDF] [Request Permissions]

Dora M. Kovacs, Wilma Wasco, Johanna Witherby, Kevin M. Felsenstein, Franck Brunei, Robert G. Roeder, and Rudolph E. Tanzi: The upstream stimulatory factor functionally interacts with the Alzheimer amyloid ß-protein precursor gene
Hum. Mol. Genet. 1995 4: 1527-1533; doi:10.1093/hmg/4.9.1527 [Abstract] [PDF] [Request Permissions]

Francesco P. Mancini, Vincent Mooser, Rudy Guerra, and Helen H. Hobbs: Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels
Hum. Mol. Genet. 1995 4: 1535-1542; doi:10.1093/hmg/4.9.1535 [Abstract] [PDF] [Request Permissions]

REPORTS:

Paul W.A. Reymer, Björn E. Groenemeyer, Eric Gagné, Li Miao, Elianne E.G. Appelman, Jaap C. Seidel, Daan Kromhout, Saskia M. Bijvoet, Karin van de Oever, Taco Bruin, Michael R. Hayden, and John J. P.Kastelein: A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia
Hum. Mol. Genet. 1995 4: 1543-1549; doi:10.1093/hmg/4.9.1543 [Abstract] [PDF] [Request Permissions]

Michael G. Leahy, Susan Tonks, Jonathan H. Moses, A.Rosemary Brett, Robert Huddart, David Forman, R.Timothy D. Oliver, D.Timothy Bishop, and Julia G. Bodmer: Candidate regions for a testicular cancer susceptibility gene
Hum. Mol. Genet. 1995 4: 1551-1555; doi:10.1093/hmg/4.9.1551 [Abstract] [PDF] [Request Permissions]

Julia E. Parrish, Alfredo Ciccodicola, Manfred Wehnert, Gerald F. Cox, Ellson Chen, and David L. Nelson: A muscle-specific DNase I-like gene in human Xq28
Hum. Mol. Genet. 1995 4: 1557-1564; doi:10.1093/hmg/4.9.1557 [Abstract] [PDF] [Request Permissions]

Magall P. Williamson, Patricia A. Elder, Margaret E. Shaw, Jayne Devlin, and Margaret A. Knowles: p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer
Hum. Mol. Genet. 1995 4: 1569-1577; doi:10.1093/hmg/4.9.1569 [Abstract] [PDF] [Request Permissions]

Angela M.Christiano, Julia Yu-Yun Lee, Wei J.Chen, Sal LaForgia, and Jouni Uitto: Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
Hum. Mol. Genet. 1995 4: 1579-1583; doi:10.1093/hmg/4.9.1579 [Abstract] [PDF] [Request Permissions]

David C. Rubinsztein, Jayne Leggo, Gerhard A. Coetzee, Ryan A. Irvine, Michael Buckley, and Malcolm A. Ferguson-Smith: Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes
Hum. Mol. Genet. 1995 4: 1585-1590; doi:10.1093/hmg/4.9.1585 [Abstract] [PDF] [Request Permissions]

Johannes N. Spelbrink and Coby Van den Bogert: The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines
Hum. Mol. Genet. 1995 4: 1591-1596; doi:10.1093/hmg/4.9.1591 [Abstract] [PDF] [Request Permissions]

Stephen L. Hart, Edward Mayall, Myra Stern, Felix M. Munkonge, Amy Frost, Leaf Huang, Maria Vasilliou, Robert Williamson, Eric W.F.W. AIton, and Charles Coutelle: The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments
Hum. Mol. Genet. 1995 4: 1597-1602; doi:10.1093/hmg/4.9.1597 [Abstract] [PDF] [Request Permissions]

Qing Wang, Jiaxiang Shen, Zhizhong Li, Katherine Timothy, G.Michael Vincent, Silvia G. Priori, Peter J. Schwartz, and Mark T. Keating: Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
Hum. Mol. Genet. 1995 4: 1603-1607; doi:10.1093/hmg/4.9.1603 [Abstract] [PDF] [Request Permissions]

Stephen C.L. Gough, Philip J. Saker, Lynn E. Pritchard, Tony R. Merriman, Marilyn E. Merriman, Bethan R. Rowe, Sudhesh Kumar, Timothy Aitman, Anthony H. Barnett, Robert C. Turner, Stephen C. Bain, and John A. Todd: Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?
Hum. Mol. Genet. 1995 4: 1609-1612; doi:10.1093/hmg/4.9.1609 [Abstract] [PDF] [Request Permissions]

David W. Dresser, Adam Hacker, Robin Lovell-Badge, and Daniel Guerrier: The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous
Hum. Mol. Genet. 1995 4: 1613-1618; doi:10.1093/hmg/4.9.1613 [Abstract] [PDF] [Request Permissions]

Ina Schmitt, Jörg T.Epplen, and Olaf Riess: Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat
Hum. Mol. Genet. 1995 4: 1619-1624; doi:10.1093/hmg/4.9.1619 [Abstract] [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Sandrine Barbaux, Eric Vilain, Odile Raoul, Simone Gilgenkrantz, Eric Jeandidier, Denis Chadenas, Nicole Souleyreau, Marc Fellous, and Ken McElreavey: Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata
Hum. Mol. Genet. 1995 4: 1565-1568; doi:10.1093/hmg/4.9.1565 [Abstract] [PDF] [Request Permissions]

LINKAGE REPORTS:

Jerry Brown, Anthony Ashworth, Susanne Gydesen, Asger Sorensen, Martin Rossor, John Hardy, and John Collinge: Familial non-specific dementia maps to chromosome 3
Hum. Mol. Genet. 1995 4: 1625-1628; doi:10.1093/hmg/4.9.1625 [Abstract] [PDF] [Request Permissions]

Kyproula Christodoulou, Theodoros Kyriakides, Anna H. Hristova, Domna-Maria Georgiou, Ljuba Kalaydjieva, Borjana Yshpekova, Tatjana Ivanova, James L.Weber, and Lefkos T.Middleton: Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
Hum. Mol. Genet. 1995 4: 1629-1632; doi:10.1093/hmg/4.9.1629 [Abstract] [PDF] [Request Permissions]

Sophie Nicole, Christiane Ben Hamida, Peter Beighton, Selim Bakouri, Samir Belal, Norma Romero, Denis Viljoen, Gérard Ponsot, Azza Sammoud, Jean Weissenbach, Michel Fardeau, Mongi Ben Hamida, Bertrand Fontaine, and Fayçal Hentati: Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping
Hum. Mol. Genet. 1995 4: 1633-1636; doi:10.1093/hmg/4.9.1633 [Abstract] [PDF] [Request Permissions]

Clinton T. Baldwin, Sari Weiss, Lindsay A. Farrer, Anita L. De Stefano, Ronald Adair, Barbara Franklyn, Kenneth K. Kidd, Michael Korostishevsky, and Batsheva Bonné-Tamir: Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
Hum. Mol. Genet. 1995 4: 1637-1642; doi:10.1093/hmg/4.9.1637 [Abstract] [PDF] [Request Permissions]

Kunihiro Fukushima, Arabandi Ramesh, C.R.Srikumari Srisailapathy, Li Ni, Achih Chen, Marsha O'Neill, Guy Van Camp, Paul Coucke, Shelley D.Smith, Judith B.Kenyon, Pawain Jain, Ed.R. Wilcox, Ross I.S.Zbar, and Richard J.H.Smith: Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
Hum. Mol. Genet. 1995 4: 1643-1648; doi:10.1093/hmg/4.9.1643 [Abstract] [PDF] [Request Permissions]

John Loughlin, Catherine Irven, Lee J. Hardwick, Sophie Butcher, Sinead Walsh, Paul Wordsworth, and Bryan Sykes: Linkage of the gene that encodes the ${alpha}$ 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)
Hum. Mol. Genet. 1995 4: 1649-1651; doi:10.1093/hmg/4.9.1649 [Abstract] [PDF] [Request Permissions]

Rosemary E. Kelsell, Bernard F. Godley, Kevin Evans, Peter A.C. Tiffin, Cheryl Y. Gregory, Catherine Plant, Anthony T. Moore, Alan C. Bird, and David M. Hunt: Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q
Hum. Mol. Genet. 1995 4: 1653-1656; doi:10.1093/hmg/4.9.1653 [Abstract] [PDF] [Request Permissions]

José M.Serratosa, Antonio V.Delgado-Escueta, Ignacio Posada, Susan Shih, Ivo Drury, José Berciano, J.Antonio Zabala, M.Carmen Antúnez, and Robert S.Sparkes: The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q
Hum. Mol. Genet. 1995 4: 1657-1663; doi:10.1093/hmg/4.9.1657 [Abstract] [PDF] [Request Permissions]

Kazuyoshi Fukai, Jangsuk Oh, Edgar Frenk, Carmelo Almodóvar, and Richard A. Spritz: Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3
Hum. Mol. Genet. 1995 4: 1665-1669; doi:10.1093/hmg/4.9.1665 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

D.L. Browne, E.R.P. Brunt, R.C. Griggs, J.G. Nutt, S.T. Gancher, E.A. Smith, and M. Litt: Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
Hum. Mol. Genet. 1995 4: 1671-1672; doi:10.1093/hmg/4.9.1671 [PDF] [Request Permissions]

E. LeGuern, R. Gouider, J. Lopes, N. Abbas, M. Gugenheim, S. Tardieu, N. Ravisé, J.-M. Léger, J.-M. Vallat, P. Bouche, Y. Agid, A. Brice, and the French CMT Collaborative Research Group: Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases
Hum. Mol. Genet. 1995 4: 1673-1674; doi:10.1093/hmg/4.9.1673 [PDF] [Request Permissions]

Andrew Shenker, Philippe Chanson, Lee S. Welnstein, Patty Chi, Alen M. Spiegel, Abderrahim Lomri, and Pierre J. MARIE: Osteoblastic cells derived fronm isolated lesions of fibrous dysplasia contain activating somatic mutatuions of thje G_s ${alpha}$ gene
Hum. Mol. Genet. 1995 4: 1675-1676; doi:10.1093/hmg/4.9.1675 [PDF] [Request Permissions]

Timothy M. Olson, Virginia V. Michels, Zsolt Urban, Katalin Cslszar, Angela M. Christiano, David J. Driscoll, Robert H. Feldt, Charles D. Boyd, and Stephen N. Thibodeau: A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis
Hum. Mol. Genet. 1995 4: 1677-1679; doi:10.1093/hmg/4.9.1677 [PDF] [Request Permissions]

Franklin Quan, Marcus Grompe, Petra Jakobs, and Bradley W. Popovich: Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism
Hum. Mol. Genet. 1995 4: 1681-1684; doi:10.1093/hmg/4.9.1681 [PDF] [Request Permissions]

James E.Cleaver, Wayne C.Charles, Greg H.Thomas, and Mindy L.McDowell: A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients
Hum. Mol. Genet. 1995 4: 1685-1687; doi:10.1093/hmg/4.9.1685 [PDF] [Request Permissions]

Karl J.Morten, Joanna Poulton, and Bryan Sykes: Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA^leuUUR in patients with the MELAS phenotype
Hum. Mol. Genet. 1995 4: 1689-1691; doi:10.1093/hmg/4.9.1689 [PDF] [Request Permissions]

Carla Tassara, Amy E. Pepper, and Jennifer M. Puck: Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency
Hum. Mol. Genet. 1995 4: 1693-1695; doi:10.1093/hmg/4.9.1693 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1995 4: 1697; doi:10.1093/hmg/4.9.1697 [PDF] [Request Permissions]