Hum. Mol. Genet. -- Table of Contents (3 [6] )

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

Other Issues:
Contents: Volume 3, Number 6   June 1994   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Corrigenda

       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:

M.Tomlinson Ian, Graham P. Cook, P.Carter Nigel, Ramnath Elaswarapu, Sarah Smith, Gerald Walter, Lakjaya Buluwela, Terence H. Rabbitts, and Greg Winter: Human immunoglobulin V_H and D segments on chromosomes 15q11.2 and 16p11.2
Hum. Mol. Genet. 1994 3: 853-860; doi:10.1093/hmg/3.6.853 [Abstract] [PDF] [Request Permissions]

REPORTS:

Susanna Bunge, Wim J. Kleijer, Cordula Steglich, Michael Beck, Cornelia Zuther, C.Phillip Morris, Eberhard Schwinger, John J. Hopwood, Hamish S. Scott, and Andreas Gal: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common ${alpha}$ -L-iduronidase mutations (W402X and Q70X) among European patients
Hum. Mol. Genet. 1994 3: 861-866; doi:10.1093/hmg/3.6.861 [Abstract] [PDF] [Request Permissions]

Masahito Ogasawara, Yoichi Matsubara, Hitoshi Mikami, and Kuniaki Narisawa: Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
Hum. Mol. Genet. 1994 3: 867-872; doi:10.1093/hmg/3.6.867 [Abstract] [PDF] [Request Permissions]

Alexander I. Agulnik, Michael J. Mitchell, Jody L. Lerner, Diane R. Woods, and Colin E. Bishop: A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens
Hum. Mol. Genet. 1994 3: 873-878; doi:10.1093/hmg/3.6.873 [Abstract] [PDF] [Request Permissions]

Alexander I. Agulnik, Michael J. Mitchell, Marie-Geneviève Mattei, Giuseppe Borsani, Philip A. Avner, Jody L. Lerner, and Colin E. Bishop: A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
Hum. Mol. Genet. 1994 3: 879-884; doi:10.1093/hmg/3.6.879 [Abstract] [PDF] [Request Permissions]

Jesús Sainz, Duong P. Huynh, Karla Figueroa, Nikola K. Ragge, Michael E. Baser, and Stefan-Matthias Pulst: Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
Hum. Mol. Genet. 1994 3: 885-891; doi:10.1093/hmg/3.6.885 [Abstract] [PDF] [Request Permissions]

Karin Buiting, Bärbel Dittrich, Wendy P. Robinson, Mirlam Guitart, Dvorah Abeliovich, Israela Lerer, and Bernhard Horsthemke: Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications
Hum. Mol. Genet. 1994 3: 893-895; doi:10.1093/hmg/3.6.893 [Abstract] [PDF] [Request Permissions]

Robert N. Haire, Yuko Ohta, Janet E. Lewis, Shu Man Fu, Peter Kroisel, and Gary W. Litman: TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12
Hum. Mol. Genet. 1994 3: 897-901; doi:10.1093/hmg/3.6.897 [Abstract] [PDF] [Request Permissions]

Maude E. Phipps, Farida Latif, Amanda Prowse, Stewart J. Payne, Jeanne Dietz-Band, Margaret Leversha, Nabeel A. Affara, Anthony T. Moore, John Tolmie, Albert Schinzel, Michael I. Lerman, Malcolm A. Ferguson-Smith, and Eamonn R. Maher: Molecular genetic analysis of the 3p — syndrome
Hum. Mol. Genet. 1994 3: 903-908; doi:10.1093/hmg/3.6.903 [Abstract] [PDF] [Request Permissions]

F. Duclos, F. Rodius, K. Wrogemann, J.-L. Mandel, and M. Koenig: The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb
Hum. Mol. Genet. 1994 3: 909-914; doi:10.1093/hmg/3.6.909 [Abstract] [PDF] [Request Permissions]

Jacquie Greenberg, Rene Goliath, Peter Beighton, and Rajkumar Ramesar: A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
Hum. Mol. Genet. 1994 3: 915-918; doi:10.1093/hmg/3.6.915 [Abstract] [PDF] [Request Permissions]

M.R. Passos-Bueno, M. Vainzof, S.K. Marie, and M. Zatz: Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy
Hum. Mol. Genet. 1994 3: 919-922; doi:10.1093/hmg/3.6.919 [Abstract] [PDF] [Request Permissions]

Richa Saxena, Gall L. Shaw, Mary V. Relling, James N. Frame, Donald T. Moir, William E. Evans, Neil Caporaso, and Barbara Weiffenbach: Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype
Hum. Mol. Genet. 1994 3: 923-926; doi:10.1093/hmg/3.6.923 [Abstract] [PDF] [Request Permissions]

François Rousseau, Laura J. Robb, Patricia Rouillard, and Vazken M. Der Kaloustian: No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations
Hum. Mol. Genet. 1994 3: 927-930; doi:10.1093/hmg/3.6.927 [Abstract] [PDF] [Request Permissions]

John Gosden and Diane Lawson: Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS)
Hum. Mol. Genet. 1994 3: 931-936; doi:10.1093/hmg/3.6.931 [Abstract] [PDF] [Request Permissions]

Eiko Arai, Tatsuro Ikeuchi, and Yusuke Nakamura: Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)
Hum. Mol. Genet. 1994 3: 937-939; doi:10.1093/hmg/3.6.937 [Abstract] [PDF] [Request Permissions]

Claudius Lorenz, Christof Meyer-Kleine, Klaus Steinmeyer, Manuela C. Koch, and Thomas J. Jentsch: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
Hum. Mol. Genet. 1994 3: 941-946; doi:10.1093/hmg/3.6.941 [Abstract] [PDF] [Request Permissions]

Joanna Poulton, Karl J. Morten, Katharina Weber, Garry K. Brown, and Laurence Bindoff: Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?
Hum. Mol. Genet. 1994 3: 947-951; doi:10.1093/hmg/3.6.947 [Abstract] [PDF] [Request Permissions]

Barbara Lisowska-Grospierre, Marie-Claude Fondaneche, Marie-Pierre Rols, Claude Griscelli, and Alain Fischer: Two complementation groups account for most cases of inherited MHC class II deficiency
Hum. Mol. Genet. 1994 3: 953-958; doi:10.1093/hmg/3.6.953 [Abstract] [PDF] [Request Permissions]

Alessandra Rampazzo, Andrea Nava, Gian A. Danieli, Gianfranco Buja, Luciano Daliento, Giuseppe Fasoli, Roldano Scognamiglio, Domenico Corrado, and Gaetano Thlene: The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24
Hum. Mol. Genet. 1994 3: 959-962; doi:10.1093/hmg/3.6.959 [Abstract] [PDF] [Request Permissions]

Thierry Nouspikel and Stuart G. Clarkson: Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
Hum. Mol. Genet. 1994 3: 963-967; doi:10.1093/hmg/3.6.963 [Abstract] [PDF] [Request Permissions]

D.E. Iles, F. Lehmann-Horn, S.W. Scherer, L.-C. Tsui, D.Olde Weghuis, R.F. Suijkerbuijk, L. Heytens, G. Mikala, A. Schwartz, F.R. Ellis, A.D. Stewart, T. Deufel, and B. Wieringa: Localization of the gene encoding the ${alpha}$ ₂/ ${delta}$ -subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
Hum. Mol. Genet. 1994 3: 969-975; doi:10.1093/hmg/3.6.969 [Abstract] [PDF] [Request Permissions]

Hans Eiberg, Birgit Kjer, Poul Kjer, and Thomas Rosenberg: Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
Hum. Mol. Genet. 1994 3: 977-980; doi:10.1093/hmg/3.6.977 [Abstract] [PDF] [Request Permissions]

Daniel R. Rosen, Allen C. Bowling, David Patterson, Ted B. Usdin, Peter Sapp, Eva Mezey, Diane McKenna-Yasek, Jerimiah O'Regan, Zohra Rahmani, Robert J. Ferrante, Michael J. Brownstein, Neil W. Kowall, M.Flint Beal, H.Robert Horvitz, and Robert H. Brown, Jr: A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
Hum. Mol. Genet. 1994 3: 981-987; doi:10.1093/hmg/3.6.981 [Abstract] [PDF] [Request Permissions]

Parry Guilford, Hamadi Ayadi, Stéphane Blanchard, Hassan Chaib, Denis Le Paslier, Jean Weissenbach, Mohamed Drira, and Christine Petit: A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
Hum. Mol. Genet. 1994 3: 989-993; doi:10.1093/hmg/3.6.989 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Hiroko Tsukamoto, Koji Inui, Taro Matsuoka, Itaru Yanagihara, Hisao Fukushima, and Shintaro Okada: One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients
Hum. Mol. Genet. 1994 3: 995-996; doi:10.1093/hmg/3.6.995 [PDF] [Request Permissions]

Jesus Esteban, Daniel R. Rosen, Allen C. Bowling, Peter Sapp, D. McKenna-Yasek, Jeremiah P. O'Regan, M.Flint Beal, H.Robert Horvitz, and Robert H. Brown, Jr.: Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
Hum. Mol. Genet. 1994 3: 997-998; doi:10.1093/hmg/3.6.997 [PDF] [Request Permissions]

Lidija Petreska, Svetlana Koceva, Aleksandra Gordova-Muratovska, Risto Nestorov, and Georgi D. Efremov: Identification of two new mutations (711 + 3A $->$ G and V1397E) in CF chromosomes of Albanian and Macedonian origin
Hum. Mol. Genet. 1994 3: 999-1000; doi:10.1093/hmg/3.6.999 [PDF] [Request Permissions]

Charlotta Schaedel, Ann-Charlotte Kristoffersson, Ragnhild Kornfält, and Lars Holmberg: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
Hum. Mol. Genet. 1994 3: 1001-1002; doi:10.1093/hmg/3.6.1001 [PDF] [Request Permissions]

Marie-Catherine Romey, Marie Desgeorges, Maguelone Laussel, Marie-France Durand, Jacques Demaille, and Mireille Claustres: Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis
Hum. Mol. Genet. 1994 3: 1003-1004; doi:10.1093/hmg/3.6.1003 [PDF] [Request Permissions]

Seiichi Tsujino, Sara Shanske, Yu-ichi Goto, Ikuya Nonaka, and Salvatore DiMauro: Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
Hum. Mol. Genet. 1994 3: 1005-1006; doi:10.1093/hmg/3.6.1005 [PDF] [Request Permissions]

Lois M. Mulligan, Charis Eng, Catherine S. Healey, Margaret A. Ponder, Gerald L. Feldman, Peizhi Li, Charles E. Jackson, and Bruce A.J. Ponder: A de novo mutation of the RET proto-oncogene in a patient with MEN 2A
Hum. Mol. Genet. 1994 3: 1007-1008; doi:10.1093/hmg/3.6.1007 [PDF] [Request Permissions]

Marion Mandl, Martina Kadmon, Marlies Sengteller, Reiner Caspari, Peter Propping, and Waltraut Friedl: A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis
Hum. Mol. Genet. 1994 3: 1009-1011; doi:10.1093/hmg/3.6.1009 [PDF] [Request Permissions]

Linda D. Piersall, Harry C. Dietz, Bryan D. Hall, Ronald G. Cadle, Reed E. Pyeritz, Clair A. Francomano, and Iain McIntosh: Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred
Hum. Mol. Genet. 1994 3: 1013-1014; doi:10.1093/hmg/3.6.1013 [PDF] [Request Permissions]

Christof Meyer-Kleine, Kenneth Ricker, Michael Otto, and Manuela C. Koch: A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)
Hum. Mol. Genet. 1994 3: 1015-1016; doi:10.1093/hmg/3.6.1015 [PDF] [Request Permissions]

P. Donnelly, H. Menet, C. Fouanon, O. Herbert, J.P. Moisan, M.G.Le Roux, and O. Pascal: Missense mutation in the choroideremia gene
Hum. Mol. Genet. 1994 3: 1017; doi:10.1093/hmg/3.6.1017 [PDF] [Request Permissions]

Cathy Meaney, Lianne C. Blanch, and C.Phillip Morris: A nonsense mutation (R220X) in the ${alpha}$ -galactosidase A gene detected in a female carrier of Fabry disease
Hum. Mol. Genet. 1994 3: 1019-1020; doi:10.1093/hmg/3.6.1019 [PDF] [Request Permissions]

Lise Lotte Hansen, Nina Horn, Hans-Henrik M. Dahl, and Torben A. Kruse: Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 ${alpha}$ subunit
Hum. Mol. Genet. 1994 3: 1021-1022; doi:10.1093/hmg/3.6.1021 [PDF] [Request Permissions]

Tayebeh Hamzehloei, Sarah P. West, Pam D. Chapman, John Burn, and Ann Curtis: Four novel germ-line mutations in the APC gene detected by heteroduplex analysis
Hum. Mol. Genet. 1994 3: 1023-1024; doi:10.1093/hmg/3.6.1023 [PDF] [Request Permissions]

Michael W. Consevage, Grant C. Salada, Barry G. Baylen, Roger L. Ladda, and Peter K. Rogan: A new missense mutation, Arg719Gln, in the ß-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
Hum. Mol. Genet. 1994 3: 1025-1026; doi:10.1093/hmg/3.6.1025 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

D. Schindelhauer, H. Achatz, T.M. Strom, M. Ross, M.R.S. Carvalho, and A. Meindl: Isolation and fine mapping of (CA)_n repeats from the Xp11.23 and Xp11.4 region
Hum. Mol. Genet. 1994 3: 1027; doi:10.1093/hmg/3.6.1027 [PDF] [Request Permissions]

A.F. Wiechmann, K.C. Haro, and D.W. Bowden: Three microsatellite polymorphisms at the recoverin locus on chromosome 17
Hum. Mol. Genet. 1994 3: 1028; doi:10.1093/hmg/3.6.1028 [PDF] [Request Permissions]

Y.-P.C. Chang, K.D. Smith, and G.J. Dover: Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci
Hum. Mol. Genet. 1994 3: 1029; doi:10.1093/hmg/3.6.1029 [PDF] [Request Permissions]

D. Yan, D. Wong, K. Zheng, D. Thiselton, R. Fujita, P.A. Sieving, S.S. Bhattacharya, T.L. Yang-Feng, J.E. Richards, and A. Swaroop: Dinucleotide repeat polymorphism at the DXS977 locus
Hum. Mol. Genet. 1994 3: 1030; doi:10.1093/hmg/3.6.1030 [PDF] [Request Permissions]

J.-M. Rozet, S. Gerber, D. Bonneau, A. Munnich, and J. Kaplan: Dsal polymorphism at the human cone transducin ${alpha}$ -subunit (GNAT2) detected by PCR
Hum. Mol. Genet. 1994 3: 1030; doi:10.1093/hmg/3.6.1030-a [PDF] [Request Permissions]

W.H.I. McLean, N. Sultan, E. Parfitt, and E.B. Lane: Polymorphisms in the keratin 8 gene detected by PCR
Hum. Mol. Genet. 1994 3: 1031; doi:10.1093/hmg/3.6.1031 [PDF] [Request Permissions]

I. Vorechovsky: SSCP at the BTK locus
Hum. Mol. Genet. 1994 3: 1031; doi:10.1093/hmg/3.6.1031-a [PDF] [Request Permissions]

B. Rash, W. Sweetman, B. Sykes, T. Thomas, M. Grant, R. Boot-Handford, and G. Wallis: Seven polymorphisms at the COL10A1 locus
Hum. Mol. Genet. 1994 3: 1032; doi:10.1093/hmg/3.6.1032 [PDF] [Request Permissions]

Corrigenda:

F.A. Saad, C. Busque, L. Vitiello, and G.A. Danieli: DXS997 localized to intron 48 of dystrophin
Hum. Mol. Genet. 1994 3: 1033-1034; doi:10.1093/hmg/3.6.1033 [Abstract] [PDF] [Request Permissions]

N. Fairweather, C. Bell, S. Cochrane, J. Chelly, S. Wang, M.L. Mostacciuolo, A.P. Monaco, and N.E. Haites: Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)
Hum. Mol. Genet. 1994 3: 1033-1034; doi:10.1093/hmg/3.6.1033-a [Abstract] [PDF] [Request Permissions]

A. Savov, B. Mercier, L. Kalaydjieva, and C. Férec: Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing
Hum. Mol. Genet. 1994 3: 1033-1034; doi:10.1093/hmg/3.6.1033-b [Abstract] [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 1033; doi:10.1093/hmg/3.6.1033-c [PDF] [Request Permissions]