Hum. Mol. Genet. -- Table of Contents (4 [8] )

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Contents: Volume 4, Number 8   August 1995   [Index by Author]

       ARTICLES

       REPORTS

       LINKAGE REPORTS

       MUTATION REPORTS

       Author index

       ERRATUM

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ARTICLES:

Dominic J. Wells, Kim E. Wells, Emmanuel A. Asante, Gaynor Turner, Yoshihide Sunada, Kevin P. Campbell, Frank S. Walsh, and George Dickson: Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy
Hum. Mol. Genet. 1995 4: 1245-1250; doi:10.1093/hmg/4.8.1245 [Abstract] [PDF] [Request Permissions]

Stephanie F. Phelps, Michael A. Hauser, Neil M. Cole, Jill A. Rafael, Richard T. Hinkle, John A. Faulkner, and Jeffrey S. Chamberlain: Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
Hum. Mol. Genet. 1995 4: 1251-1258; doi:10.1093/hmg/4.8.1251 [Abstract] [PDF] [Request Permissions]

Keith Harshman, Russell Bell, Judith Rosenthal, Harold Katcher, Yoshio MlKl, Jeff Swenson, Zahra Gholami, Cheryl Frye, Wei Ding, Priya Dayananth, Ken Eddington, Franklin H. Norris, Pamela K. Bristow, Robert Phelps, Thomas Haltier, Steven Stone, Daniel Shaffer, Steven Bayer, Charles Hussey, Thanh Tran, Katherine Richardson, Brad Dehoff, Mei Lai, Paul R. Rosteck, Jr, Mark H. Skolnick, Donna Shattuck-Eidens, and Alexander Kamb: Comparison of the positional cloning methods used to isolate the BRCA1 gene
Hum. Mol. Genet. 1995 4: 1259-1266; doi:10.1093/hmg/4.8.1259 [Abstract] [PDF] [Request Permissions]

Sven Hoffmeyer, Günter Assum, Johann Griesser, Dieter Kaufmann, Peter Nurnberg, and Winfrid Krone: On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1
Hum. Mol. Genet. 1995 4: 1267-1272; doi:10.1093/hmg/4.8.1267 [Abstract] [PDF] [Request Permissions]

B. Wirth, E. Hahnen, K. Morgan, C.J. DiDonato, A. Dadze, S. Rudnik-Schöneborn, L.R. Simard, K. Zerres, and A.H.M. Burghes: Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs
Hum. Mol. Genet. 1995 4: 1273-1284; doi:10.1093/hmg/4.8.1273 [Abstract] [PDF] [Request Permissions]

Mohammad A. Rafi, Paola Luzi, Yue Qun Chen, and David A. Wenger: A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
Hum. Mol. Genet. 1995 4: 1285-1289; doi:10.1093/hmg/4.8.1285 [PDF] [Request Permissions]

Marie-Laure Yaspo, Lisa Gellen, Richard Mott, Bernhard Korn, Dean Nizetic, AnneMarie Poustka, and Hans Lehrach: Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries
Hum. Mol. Genet. 1995 4: 1291-1304; doi:10.1093/hmg/4.8.1291 [Abstract] [PDF] [Request Permissions]

REPORTS:

D. Lucente, H.M. Chen, D. Shea, S.N. Samec, M. Rutter, R. Chrast, C. Rossier, A. Buckler, S.E. Antonarakis, and M.K. McCormick: Localization of 102 exons to a 2.5 Mb region involved in Down syndrome
Hum. Mol. Genet. 1995 4: 1305-1311; doi:10.1093/hmg/4.8.1305 [Abstract] [PDF] [Request Permissions]

Lars Hansen, Torben Hansen, Henrik Vestergaard, Christian Bjørbæk, Søren M. Echwald, Jesper O. Clausen, Yu Hua Chen, Mao Xiang Chen, Patricia T.W. Cohen, and Oluf Pedersen: A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin
Hum. Mol. Genet. 1995 4: 1313-1320; doi:10.1093/hmg/4.8.1313 [Abstract] [PDF] [Request Permissions]

Anna Savoia, Marta Centra, Leonarda lanzano, Gian Pio de Cillis, Leopoldo Zelante, and Manuel Buchwald: Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene
Hum. Mol. Genet. 1995 4: 1321-1326; doi:10.1093/hmg/4.8.1321 [Abstract] [PDF] [Request Permissions]

Agnès Rötig, Thomas Bourgeron, Dominique Chretien, Pierre Rustin, and Arnold Munnich: Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
Hum. Mol. Genet. 1995 4: 1327-1330; doi:10.1093/hmg/4.8.1327 [Abstract] [PDF] [Request Permissions]

Alberto E. Turco, Sandro Rossetti, Elena Bresin, Stefano Corra, Linda Gammaro, Giuseppe Maschio, and Pier Franco Pignatti: A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
Hum. Mol. Genet. 1995 4: 1331-1335; doi:10.1093/hmg/4.8.1331 [Abstract] [PDF] [Request Permissions]

Caroline Geisen, Hajo Delius, Peter Lichter, and Tomas Kahn: A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14
Hum. Mol. Genet. 1995 4: 1337-1345; doi:10.1093/hmg/4.8.1337 [Abstract] [PDF] [Request Permissions]

Robert F. Clark, Marc Cruts, Kevin M. Korenblat, Chengshi He, Christopher Talbot, Christine Van Broeckhoven, and Alison M. Goate: A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3
Hum. Mol. Genet. 1995 4: 1347-1354; doi:10.1093/hmg/4.8.1347 [Abstract] [PDF] [Request Permissions]

Marc Cruts, Hubert Backhovens, Jessie Theuns, Robert F. Clark, Denis Le Paslier, Jean Weissenbach, Alison M. Goate, Jean-Jaques Martin, and Christine Van Broeckhoven: Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3
Hum. Mol. Genet. 1995 4: 1355-1364; doi:10.1093/hmg/4.8.1355 [Abstract] [PDF] [Request Permissions]

Gabrlele Schilling, Alan H. Sharp, Scott J. Loev, Molly V. Wagster, Shi-Hua Li, O.Colin Stine, and Christopher A. Ross: Expression of the Huntington's disease (IT15) protein product in HD patients
Hum. Mol. Genet. 1995 4: 1365-1371; doi:10.1093/hmg/4.8.1365 [Abstract] [PDF] [Request Permissions]

Cheng Chi Lee, Ali Yazdani, Manfred Wehnert, ZhaoYang Zhao, Elizabeth A. Lindsay, Jennifer Bailey, Mary I. Coolbaugh, Lisa Couch, Mengli Xiong, A.Craig Chinault, Antonio Baldini, and C.Thomas Caskey: Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries
Hum. Mol. Genet. 1995 4: 1373-1380; doi:10.1093/hmg/4.8.1373 [Abstract] [PDF] [Request Permissions]

Tania Attié, Anna Pelet, Patrick Edery, Charis Eng, Lois M. Mulligan, Jeanne Amiel, Laetitia Boutrand, Chérif Beldjord, Claire Nihoul-Fékété, Arnold Munnich, Bruce A.J. Ponder, and Stanislas Lyonnet: Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
Hum. Mol. Genet. 1995 4: 1381-1386; doi:10.1093/hmg/4.8.1381 [Abstract] [PDF] [Request Permissions]

Michael C. Gorry, Robert A. Preston, Gregory J. White, Yingze Zhang, Virender K. Singhal, H.Wolgang Losken, Michael G. Parker, Ngozi A. Nwokoro, J.Christopher Post, and Garth D. Ehrlich: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome
Hum. Mol. Genet. 1995 4: 1387-1390; doi:10.1093/hmg/4.8.1387 [Abstract] [PDF] [Request Permissions]

Laurent Parmentier, Claudine Blanchet-Bardon, Simon Nguyen, Jean-François Prud'homme, Louis Dubertret, and Jean Weissenbach: Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
Hum. Mol. Genet. 1995 4: 1391-1395; doi:10.1093/hmg/4.8.1391 [Abstract] [PDF] [Request Permissions]

Frank Lehmann-Horn, Volker Mailänder, Roland Heine, and Alfred L. George: Myotonia levior is a chloride channel disorder
Hum. Mol. Genet. 1995 4: 1397-1402; doi:10.1093/hmg/4.8.1397 [Abstract] [PDF] [Request Permissions]

Janine H. van Ree, Walther J.J.A. van den Broek, André van der Zee, Vivian E.H. Dahlmans, Bé Wieringa, Rune R. Frants, Louis M. Havekes, and Marten H. Hofker: Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members
Hum. Mol. Genet. 1995 4: 1403-1409; doi:10.1093/hmg/4.8.1403 [Abstract] [PDF] [Request Permissions]

Jaime J. Carvajal, Mark A. Pook, Kit Doudney, Renate Hillermann, David Wilkes, Sahar Al-Mahdawi, Robert Williamson, and Susan Chamberlain: Friedreich's ataxia: a defect in signal transduction?
Hum. Mol. Genet. 1995 4: 1411-1419; doi:10.1093/hmg/4.8.1411 [Abstract] [PDF] [Request Permissions]

Valeria Tiranti, Patrick Chariot, Francesco Carella, Antonio Toscano, Paola Soliveri, Paolo Girlanda, Franco Carrara, Giovanni Matteo Fratta, Fiona M. Reid, Caterina Mariotti, and Massimo Zeviani: Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA ^Ser(UCN) gene
Hum. Mol. Genet. 1995 4: 1421-1427; doi:10.1093/hmg/4.8.1421 [Abstract] [PDF] [Request Permissions]

Louisa Laue, Shao-Ming Wu, Masataka Kudo, Aaron J.W. Hsueh, Gordon B. Cutler, Jr, James E. Griffin, Jean D. Wilson, Caroline Brain, A.Caroline Berry, David B. Grant, and Wai-Yee Chan: A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
Hum. Mol. Genet. 1995 4: 1429-1433; doi:10.1093/hmg/4.8.1429 [Abstract] [PDF] [Request Permissions]

LINKAGE REPORTS:

Elise Héon, Bhavna P. Sheth, Jeffrey W. Kalenak, Sara L.F. Sunden, Luan M. Streb, Chris M. Taylor, Wallace L.M. Alward, Val C.Sheffield, and Edwin M. Stone: Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
Hum. Mol. Genet. 1995 4: 1435-1439; doi:10.1093/hmg/4.8.1435 [Abstract] [PDF] [Request Permissions]

Monica Holmberg, Jenni Johansson, Lars Forsgren, Jan Heijbel, Ola Sandgren, and Gösta Holmgren: Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
Hum. Mol. Genet. 1995 4: 1441-1445; doi:10.1093/hmg/4.8.1441 [Abstract] [PDF] [Request Permissions]

Agnès Camuzat, Hélène Dollfus, Jean-Michel Rozet, Sylvie Gerber, Dominique Bonneau, Michèle Bonnemaison, Marie-Louise Briard, Jean-Louis Dufier, Imad Ghazi, Corinne Leowski, Jean Weissenbach, Jean Frezal, Arnold Munnich, and Josseline Kaplan: A gene for Leber's congenital amaurosis maps to chromosome 17p
Hum. Mol. Genet. 1995 4: 1447-1452; doi:10.1093/hmg/4.8.1447 [Abstract] [PDF] [Request Permissions]

Mansoor Sarfarazi, A.Nurten Akarsu, and Bekir Sitki Sayli: Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
Hum. Mol. Genet. 1995 4: 1453-1458; doi:10.1093/hmg/4.8.1453 [Abstract] [PDF] [Request Permissions]

Soraya Bardienb, Neil Ebenezer, Jacquie Greenberg, Chris F. Inglehearn, Lecia Bartmann, Rene Goliath, Peter Beighton, Rajkumar Ramesar, and Shomi S. Bhattacharya: An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
Hum. Mol. Genet. 1995 4: 1459-1462; doi:10.1093/hmg/4.8.1459 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Raymonda Varon, Klaus Magdorf, Doris Staab, Hans-Ulrich Wahn, Michael Krawczak, Karl Sperling, and André Reis: Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene
Hum. Mol. Genet. 1995 4: 1463-1464; doi:10.1093/hmg/4.8.1463 [PDF] [Request Permissions]

Melanie May, Laurence Colleaux, Alessandra Murgia, Arthur Aylsworth, Robert Nussbaum, Michel Fontes, and Charles Schwartz: Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM
Hum. Mol. Genet. 1995 4: 1465-1466; doi:10.1093/hmg/4.8.1465 [PDF] [Request Permissions]

Maria Bitner-Glindzicz, Peter Turnpenny, Pia Höglund, Helena Kääriäinen, Eeva-Marja Sankila, Sylvere M. van der Maarel, Yvette J.M. de Kok, Hans-Hilger Ropers, Frans P.M. Cremers, Marcus Pembrey, and Susan Malcolm: Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
Hum. Mol. Genet. 1995 4: 1467-1469; doi:10.1093/hmg/4.8.1467 [PDF] [Request Permissions]

A. Kumar, C. Wolpert, R.S. Kandt, J. Segal, J. Pufky, A.D. Roses, M.A. Pericak-Vance, and J.R. Gilbert: A de novo frame-shift mutation in the tuberin gene
Hum. Mol. Genet. 1995 4: 1471-1472; doi:10.1093/hmg/4.8.1471 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1995 4: 1473-1474; doi:10.1093/hmg/4.8.1473 [PDF] [Request Permissions]

ERRATUM:

Isik G. Yulug, Nicholas Katsanis, Jacqueline de Belleroche, John Collinge, and Elizabeth M.C. Fisher: An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4
Hum. Mol. Genet. 1995 4: 1474; doi:10.1093/hmg/4.8.1474 [Abstract] [PDF] [Request Permissions]