Hum. Mol. Genet. -- Table of Contents (3 [1] )

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Contents: Volume 3, Number 1   January 1994   [Index by Author]

       Editorial

       ARTICLES

       Author index

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Editorial:

: Editorial
Hum. Mol. Genet. 1994 3: 1-i; doi:10.1093/hmg/3.1.1 [PDF] [Request Permissions]

ARTICLES:

Bé Wieringa: COMMENTARY: Myotonic dystrophy reviewed: back to the future?
Hum. Mol. Genet. 1994 3: 1-7; doi:10.1093/hmg/3.1.1-a [PDF] [Request Permissions]

Robert D. Nicholls: COMMENTARY: Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome
Hum. Mol. Genet. 1994 3: 9-11; doi:10.1093/hmg/3.1.9 [PDF] [Request Permissions]

Monica Sciacco, Eduardo Bonilla, Eric A. Schon, Salvatore DiMauro, and Carlos T. Moraes: Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
Hum. Mol. Genet. 1994 3: 13-19; doi:10.1093/hmg/3.1.13 [Abstract] [PDF] [Request Permissions]

Lenore K. Beitel, Lynn Prior, D. Marle Vaslliou, Bruce Gottlleb, Morris Kaufman, Rose Lumbroso, Carlos Alvarado, Barbara McGillivray, Mark Triflro, and Leonard Pinsky: Complete androgen insensitivity due to mutations in the probable ${alpha}$ -helical segments of the DNA-binding domain in the human androgen receptor
Hum. Mol. Genet. 1994 3: 21-27; doi:10.1093/hmg/3.1.21 [Abstract] [PDF] [Request Permissions]

Nicholas Fairweather, Christine Bell, Susan Cochrane, Jamel Chelly, Suping Wang, Marie L.Mostacciuolo, Anthony P.Monaco, and Neva E.Haites: Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)
Hum. Mol. Genet. 1994 3: 29-34; doi:10.1093/hmg/3.1.29 [Abstract] [PDF] [Request Permissions]

E. Parfitt, S. Burge, N. Craddock, E. Roberts, W.H.I. McLean, J. Weissenbach, P. McGuffln, and M. Owen: The gene for Darier's disease maps between D12S78 and D12S79
Hum. Mol. Genet. 1994 3: 35-38; doi:10.1093/hmg/3.1.35 [Abstract] [PDF] [Request Permissions]

J. Gecz, H. Pollaord, G. Consalez, L. Villard, C. Stayton, P. Millasseau, M. Khrestchatisky, and M. Fontes: Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
Hum. Mol. Genet. 1994 3: 39-44; doi:10.1093/hmg/3.1.39 [Abstract] [PDF] [Request Permissions]

Catherine E.Neville, Manl S.Mahadeva, Juana M.Barceló, and Robert Korneluk: High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
Hum. Mol. Genet. 1994 3: 45-51; doi:10.1093/hmg/3.1.45 [Abstract] [PDF] [Request Permissions]

Simon A. Gayther, Dagan Wells, Sioban B. SenGupta, Pamela Chapman, Kay Neale, Katia Tsioupra, and Joy D. A.Delhanty: Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli
Hum. Mol. Genet. 1994 3: 53-56; doi:10.1093/hmg/3.1.53 [Abstract] [PDF] [Request Permissions]

: Hum. Mol. Genet. 1994 3: 57-60; doi:10.1093/hmg/3.1.57 [Abstract] [PDF] [Request Permissions]

Henry H. Q. Heng, Hua Xiao, Xiao-Mei Shi, Jack Greenblatt, and Lap-Chee Tsui: Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome
Hum. Mol. Genet. 1994 3: 61-64; doi:10.1093/hmg/3.1.61 [Abstract] [PDF] [Request Permissions]

Susan E. Andrew, Y. Paul Goldberg, Jane Theilmann, Jutta Zeisler, and Michael R. Hayden: A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing
Hum. Mol. Genet. 1994 3: 65-67; doi:10.1093/hmg/3.1.65 [Abstract] [PDF] [Request Permissions]

Maryse St-Louis, Barbara Leclerc, Jarmo Laine, Matti K.Salo, Chrlster Holmberg, and Robert M. Tanguay: Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I
Hum. Mol. Genet. 1994 3: 69-72; doi:10.1093/hmg/3.1.69 [Abstract] [PDF] [Request Permissions]

Holger Hummerich, Sarah Baxendale, Richard Mott, Susan F.Kirby, Marcy E.MacDonald, James Gusella, Hans Lehrach, and Gillian P.Bates: Distribution of trinucleotide repeat sequences across a ² Mbp region containing the Huntington's disease gene
Hum. Mol. Genet. 1994 3: 73-78; doi:10.1093/hmg/3.1.73 [Abstract] [PDF] [Request Permissions]

Linda A. D. Bradley, Angela K. Sweatman, Ruth C. Lovering, Alison M. Jones, Gareth Morgan, Roland J. Levinsky, and Christine Kinnon: Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis
Hum. Mol. Genet. 1994 3: 79-83; doi:10.1093/hmg/3.1.79 [Abstract] [PDF] [Request Permissions]

Biaoyand Lin, Jamal Nasir, Helen MacDonald, Gordon Hutchinson, Rona K. Graham, Johanna M. Rommesns, and Michael R. Hayden: Sequence of the murine Huntington dusease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing
Hum. Mol. Genet. 1994 3: 85-92; doi:10.1093/hmg/3.1.85 [Abstract] [PDF] [Request Permissions]

Andrea Novelletto, Francesca Persichetti, Guglielmo Sabbadin, Paola Mandich, Emilia Bellone, Franco Ajmar, Mariano Pergola, Laura Del Senno, Marcy E.MacDonald, James F.Gusella, and Marina Frontall: Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease
Hum. Mol. Genet. 1994 3: 93-98; doi:10.1093/hmg/3.1.93 [Abstract] [PDF] [Request Permissions]

Jennifer M. Lu-Kuo, Denis Le Pasller, Jean Welssenbach, llya Chumakov, Danlel Cohen, and David C. Ward: Construction of a YAC contig and a STS map spanning at least seven megabasepairs in chromosome 5q34–35
Hum. Mol. Genet. 1994 3: 99-106; doi:10.1093/hmg/3.1.99 [Abstract] [PDF] [Request Permissions]

Mark A. Jobling: A survey of long-range DNA polymorphisms on the human Y chromosome
Hum. Mol. Genet. 1994 3: 107-114; doi:10.1093/hmg/3.1.107 [Abstract] [PDF] [Request Permissions]

Neal Mathias, Mónica Bayés, and Chris Tyler–Smith: Highly informative compound haplotypes for the human Y chromosome
Hum. Mol. Genet. 1994 3: 115-123; doi:10.1093/hmg/3.1.115 [Abstract] [PDF] [Request Permissions]

Sandrine Imbeaud, Danlèle Carré-Eusèbe, Rodolfo Rey, Corinne Belville, Nathalie Josso, and Jean-Yves Picard: Molecular genetics of the persistent Müllerian duct syndrome: a study of 19 families
Hum. Mol. Genet. 1994 3: 125-131; doi:10.1093/hmg/3.1.125 [Abstract] [PDF] [Request Permissions]

J.Y. Xuan, A. Besner, M. Ireland, R.M. Hughes-Benzle, and A.E. Mackenzie: Mapping of Simpson – Golabi – Behmel syndrome to Xq25 – q27
Hum. Mol. Genet. 1994 3: 133-137; doi:10.1093/hmg/3.1.133 [Abstract] [PDF] [Request Permissions]

Zhi-Xin Zhang, Nobuaki Wakamatsu, Emllie H. Mules, George H. Thomas, and Roy A. Gravel: Impact of premature stop codons on mRNA levels in infantile Sandhoff disease
Hum. Mol. Genet. 1994 3: 139-145; doi:10.1093/hmg/3.1.139 [Abstract] [PDF] [Request Permissions]

Elapeth C. Twist, Martin H.Ruttledge, Marylene Rousseau, Marc Sanson, Laura Papi, Phlllipe Merel, Olivier Delattre, Gilles Thomas, and Guy A.Rouleau: The neurofibromatosis type 2 gene is inactivated in schwannomas
Hum. Mol. Genet. 1994 3: 147-151; doi:10.1093/hmg/3.1.147 [Abstract] [PDF] [Request Permissions]

Jingshi Wu, Jay Ellison, Eduardo Salido, Pauline Yen, T. Mohandas, and Larry J.Shapiro: Isolation and characterization of XE169, a novel human gene that escapes X-inactivation
Hum. Mol. Genet. 1994 3: 153-160; doi:10.1093/hmg/3.1.153 [Abstract] [PDF] [Request Permissions]

M. de Weers, R.G.J. Mensink, M.E.M. Kraakman, R.K.B. Schuurman, and R.W. Hendriks: Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice
Hum. Mol. Genet. 1994 3: 161-166; doi:10.1093/hmg/3.1.161 [Abstract] [PDF] [Request Permissions]

Yuan-Qing Wu, Peter Heutink, Bert B. A. de Vries, Lodewijk A. Sandkuijl, Ans M. W. van den Ouweland, Martinus F. Niermeijer, Hans Galjaard, Edwin Reyniers, Patrick J. Willems, and Dicky J. J.Halley: Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
Hum. Mol. Genet. 1994 3: 167-171; doi:10.1093/hmg/3.1.167 [Abstract] [PDF] [Request Permissions]

Lllias H. Barron, Alison Rae, Susan Holloway, David J. H.Brock, and Jon P. Warner: A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population
Hum. Mol. Genet. 1994 3: 173-175; doi:10.1093/hmg/3.1.173 [Abstract] [PDF] [Request Permissions]

Rebecca Twells, Pa-Thai Yenchitsomanus, Chintanta Sirinavin, Rebecca Allotey, Niphon Roungvarin, Adulya Viriyavejakul, Cemal Cemal, James Weber, Martin Farrall, Praklt Rodprasert, Naraporn Prayoonwiwat, Robert Williamson, and Susan Chamberlain: Autosomal dominant cerebellar ataxia with dementla: evidence for a fourth disease locus
Hum. Mol. Genet. 1994 3: 177-180; doi:10.1093/hmg/3.1.177 [Abstract] [PDF] [Request Permissions]

Marion Mandl, Rainer Paffenholz, Waltraut Friedl, Reiner Caspari, Marlles Sengteller, and Peter Propping: Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis
Hum. Mol. Genet. 1994 3: 181-184; doi:10.1093/hmg/3.1.181 [Abstract] [PDF] [Request Permissions]

Jaime O.Claudio, Claude Marineau, and Guy A.Rouleau: The mouse homologue of the neurofibromatosis type 2 gene is highly conserved
Hum. Mol. Genet. 1994 3: 185-190; doi:10.1093/hmg/3.1.185 [Abstract] [PDF] [Request Permissions]

Rhett P.Ketterling and Steve S.Sommer: Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence
Hum. Mol. Genet. 1994 3: 191-192; doi:10.1093/hmg/3.1.191 [PDF] [Request Permissions]

Vardiella Meiner, David A. Marais, Ayeleth Reshef, Ingemar Björkhem, and Eran Leltersdorf: Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family
Hum. Mol. Genet. 1994 3: 193-194; doi:10.1093/hmg/3.1.193 [PDF] [Request Permissions]

Carlos Reig, Nuria Liecha, Jaume Antich, Esther Gean, Isabel Tejada, Manuel Molina, Jaume Reventós, and Miguel Carballo: A missense mutation (²¹¹His–Arg) and a silent (¹⁶⁰Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family
Hum. Mol. Genet. 1994 3: 195-196; doi:10.1093/hmg/3.1.195 [PDF] [Request Permissions]

Jennifer Butt, Jacquie Greenberg, Ingrid Winship, Sean Sellars, Peter Beighton, and Rajkumar Ramesar: A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family
Hum. Mol. Genet. 1994 3: 197-198; doi:10.1093/hmg/3.1.197 [PDF] [Request Permissions]

James C.Fuscoe and Anita Jeffers Nelsen: Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch—Nyhan syndrome
Hum. Mol. Genet. 1994 3: 199-200; doi:10.1093/hmg/3.1.199 [PDF] [Request Permissions]

Alessandra Renieri, Lucia Galli, Mario De Marchl, Florindo Mollica, Antonio Lupo, Giuseppe Maschio, Bernard Peissel, Sandro Rossetti, Pierfranco Pignatti, and Alberto E.Turco: Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome
Hum. Mol. Genet. 1994 3: 201-202; doi:10.1093/hmg/3.1.201 [PDF] [Request Permissions]

M. All, G. Sebastlo and T. M.Cox: Identification of a novel mutation (Leu 256— Pro) in the human aldolase B gene associated with hereditary tructose Intolerance
Hum. Mol. Genet. 1994 3: 203-204; doi:10.1093/hmg/3.1.203 [PDF] [Request Permissions]

M. Al–Maghtheh, R.Y. Kim, A. Hardcastle, C. Inglehearn, and S.S. Bhattacharya: A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family
Hum. Mol. Genet. 1994 3: 205-206; doi:10.1093/hmg/3.1.205 [PDF] [Request Permissions]

John S. Harvey, William F. Carey, Paul V. Nelson, and C. Phillip Morris: Metachromatic leukodystrophy: a nonsense mutation (Q₄₈₆X) in the arylsulphatase A (ARSA) gene
Hum. Mol. Genet. 1994 3: 207; doi:10.1093/hmg/3.1.207 [PDF] [Request Permissions]

Sven Cichon, Markus M. Nöthen, Jeanette Erdmann, and Peter Propping: Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1)
Hum. Mol. Genet. 1994 3: 209; doi:10.1093/hmg/3.1.209 [PDF] [Request Permissions]

Y. Shen, K. Holman, N.A. Doggett, D.F. Callen, G.R. Sutherland, and R.I. Richards: Dinucleotide repeat polumorphisms at the D16S525, D16S359. D16S531 and D16S522 loci
Hum. Mol. Genet. 1994 3: 210; doi:10.1093/hmg/3.1.210 [PDF] [Request Permissions]

Jenny Berkman, John A.L. Armour, Georgia Chenevix–Trench, Carol Wicking, and Brandon Wainwright: Simple repeat polymorphism at the D9S151 locus
Hum. Mol. Genet. 1994 3: 211; doi:10.1093/hmg/3.1.211 [PDF] [Request Permissions]

Chang–En Yu, Leojean Anderson, Junko Oshima, and Gerard D. Schellenberg: Dinucleotide repeat polymorphism at the FGFR1 gene
Hum. Mol. Genet. 1994 3: 212; doi:10.1093/hmg/3.1.212 [PDF] [Request Permissions]

S.E. Daniels and T. Shirakawa: A dinucleotide repeat polymorphism in the FCERIB gene
Hum. Mol. Genet. 1994 3: 212-213; doi:10.1093/hmg/3.1.212-a [PDF] [Request Permissions]

S.E. Danies and T. Shirakawa: A dinucleotide repeat polymorphism in the FCERIB gene
Hum. Mol. Genet. 1994 3: 213; doi:10.1093/hmg/3.1.213 [PDF] [Request Permissions]

A. Rolfs, H. Kallisch, I. Weber, V. Regitz-Zagrosek, and E. Fleck: Mnll polymorphism for the AGTR1 gene
Hum. Mol. Genet. 1994 3: 213; doi:10.1093/hmg/3.1.213-a [PDF] [Request Permissions]

Robyn Riley, Lesa Nelson, Jun Lu, Margaret Robertson, and Kenneth Ward: Tetranucleotide repeat polymorphism at the D8S346 locus
Hum. Mol. Genet. 1994 3: 214; doi:10.1093/hmg/3.1.214 [PDF] [Request Permissions]

S. Samec, S.G. CIarkson, J. BIaschak, A. Chakravarti, M.A. Morris, D. Scherly, and S.E. Antonarakis: Dinucleotide repeat polymorphism within ERCC5 gene
Hum. Mol. Genet. 1994 3: 214; doi:10.1093/hmg/3.1.214-a [PDF] [Request Permissions]

Joëlle Roche, Ethan Whisenant, Ferenc Boldog, Deborah Loeb, Jeffery M. Vance, and Harry Drabkin: Dinucleotide repeats flanking the renal carcinoma breakpoint at 3p14.2
Hum. Mol. Genet. 1994 3: 215; doi:10.1093/hmg/3.1.215 [PDF] [Request Permissions]

Giovanni Zuliani and Helen H. Hobbs: Tetranucleotide length polymorphism 5' of the ${alpha}$ ₂–macroglobulin receptor (A2MR)/LDL receptor-related protein (LRP) gene
Hum. Mol. Genet. 1994 3: 215; doi:10.1093/hmg/3.1.215-a [PDF] [Request Permissions]

A.M. Cleton–Jansen, H.W. Moerland, R.H.A.M. Vossen, D.F. Callen, M.H. Breuning, and P. Devilee: Dinucleotide repeat polymorphism at D16S533
Hum. Mol. Genet. 1994 3: 216; doi:10.1093/hmg/3.1.216 [PDF] [Request Permissions]

Ilse Kern, Catherine Ucia, and Bernard Mach: Dinucleotide repeat polymorphism in the human RFX1 gene
Hum. Mol. Genet. 1994 3: 216; doi:10.1093/hmg/3.1.216-a [PDF] [Request Permissions]

Robert H. Lipsky, Hisami Ikeda, and Elena S. Medved: A dinucleotide repeat in the third intron of CD36
Hum. Mol. Genet. 1994 3: 217; doi:10.1093/hmg/3.1.217 [PDF] [Request Permissions]

Markus M. Nöthen and Georg Dewald: A common amino acid polymorphism in complement component C1R
Hum. Mol. Genet. 1994 3: 217; doi:10.1093/hmg/3.1.217-a [PDF] [Request Permissions]

Mary Carrington and Michael Dean: A polymorphic dinucleotide repeat in the third intron of TAP1
Hum. Mol. Genet. 1994 3: 218; doi:10.1093/hmg/3.1.218 [PDF] [Request Permissions]

Pedro Jares, Pedro L.Fernandez, Maite Blay, Gemma Aiza, William G.Stetler–Stevenson, Antonio Cardesa, and Elias Campo: Taqlpolymorphism of the human tissue inhibitor of metallo-proteinases-2 (Timp2) gene
Hum. Mol. Genet. 1994 3: 218; doi:10.1093/hmg/3.1.218-a [PDF] [Request Permissions]

Lubomir Sokol and Josef T.Prchal: Two microsatellite repeat polymorphisms in the EPO gene
Hum. Mol. Genet. 1994 3: 219; doi:10.1093/hmg/3.1.219 [PDF] [Request Permissions]

A. Sander, M.A. Kennedy, J.C. Rayner, and J.C. Murray: Dinucleotide repeat polymorphism for HLX1 gene
Hum. Mol. Genet. 1994 3: 219; doi:10.1093/hmg/3.1.219-a [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 221; doi:10.1093/hmg/3.1.221 [PDF] [Request Permissions]

Human Molecular Genetics

Editorial:

ARTICLES:

Author index: