Hum. Mol. Genet. -- Table of Contents (3 [12] )

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Contents: Volume 3, Number 12   December 1994   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

       Annual Subject Index

       Annual Author Index

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ARTICLES:

Pierre Miniou, Marc Jeanpierre, Véronique Blanquet, Valé rie Sibella, Dominique Bonneau, Catherine Herbelin, Alain Fischer, Alain Niveleau, and Evani Viegas-Péquignot: Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
Hum. Mol. Genet. 1994 3: 2093-2102; doi:10.1093/hmg/3.12.2093 [Abstract] [PDF] [Request Permissions]

F. Squitieri, S.E. Andrew, Y.P. Goldberg, B. Kremer, N. Spence, J. Zelsler, K. Nichol, J. Theilmann, J. Greenberg, J. Goto, I. Kanazawa, J. Vesa, L. Peltonen, E. Almqvist, M. Anvret, H. Telenius, B. Lin, G. Napolitano, K. Morgan, and M.R. Hayden: DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
Hum. Mol. Genet. 1994 3: 2103-2114; doi:10.1093/hmg/3.12.2103 [Abstract] [PDF] [Request Permissions]

Rachael J. Ritchie, Samantha J.L. Knight, Mark C. Hirst, Prabhjit K. Grewal, Martin Bobrow, Gareth S. Cross, and Kay E. Davies: The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
Hum. Mol. Genet. 1994 3: 2115-2121; doi:10.1093/hmg/3.12.2115 [Abstract] [PDF] [Request Permissions]

Christopher Jones, Predrag Slljepcevic, Sharon Marsh, Elizabeth Baker, Wallace Y. Langdon, Robert I. Richards, and Alan Tunnacliffe: Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3
Hum. Mol. Genet. 1994 3: 2123-2130; doi:10.1093/hmg/3.12.2123 [Abstract] [PDF] [Request Permissions]

Pauline van der Drift, Alvin Chan, Nadine van Roy, Geneviève Laureys, Andries Westerveld, Frank Speleman, and Rogier Versteeg: A multimegabase cluster of snRNA and tRNA genes on chromosome 1p36 harbours an adenovirus/SV40 hybrid virus integration site
Hum. Mol. Genet. 1994 3: 2131-2136; doi:10.1093/hmg/3.12.2131 [Abstract] [PDF] [Request Permissions]

Ute C. Rogner, Petra Kioschis, Klaus Wilke, Wellong Gong, Elke Pick, Alexander Dietrich, Ulrich Zechner, Horst Hameister, Antonella Pragllola, Gail E. Herman, John R.W. Yates, Hans Lehrach, and Annemarie Poustka: A YAC clone map spanning 7.5 megabases of human chromosome band Xq28
Hum. Mol. Genet. 1994 3: 2137-2146; doi:10.1093/hmg/3.12.2137 [Abstract] [PDF] [Request Permissions]

REPORTS:

Lutz-Peter Berg, Deborah A. Scopes, Anwar Alhaq, Vijay V. Kakkar, and David N. Cooper: Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia
Hum. Mol. Genet. 1994 3: 2147-2152; doi:10.1093/hmg/3.12.2147 [Abstract] [PDF] [Request Permissions]

Nathaniel H. Robin, George J. Feldman, Heather F. Mitchell, Peter Lorenz, R.Sid Wilroy, Elaine H. Zackal, Judith E. AIIanson, Elsa W. Reich, Rudolf A. Pfeiffer, Lome A. Clarke, Matthew L. Warmani, John B. Mulliken, Louise A. Brueton, Robin M. Winter, R.Arien Price, David L. Gasser, and Maximilian Muenke: REPORTS: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
Hum. Mol. Genet. 1994 3: 2153-2158; doi:10.1093/hmg/3.12.2153 [Abstract] [PDF] [Request Permissions]

Mark T. Selelstad, Joan M. Hebert, Alice A. Lin, Peter A. UnderhllI, Muntaser Ibrahlm, Douglas vollrath, and L.Luca Cavalll-Storza: Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition
Hum. Mol. Genet. 1994 3: 2159-2161; doi:10.1093/hmg/3.12.2159 [Abstract] [PDF] [Request Permissions]

Lois M. Mulligan, Charts Eng, Tanla Attlé, Stanislas Lyonnet, Debbie J. Marsh, Valentine J. Hyland, Bruce G. Robinson, Andrea Frilling, Christine Verellen-Dumoulln, Anne Safar, Deon J. Venter, Arnold Munnich, and Bruce A.J. Ponder: Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
Hum. Mol. Genet. 1994 3: 2163-2168; doi:10.1093/hmg/3.12.2163 [Abstract] [PDF] [Request Permissions]

Keith Foster, Amanda Prowse, Anke van den Berg, Stewart Fleming, Miriam M.F. Hulsbeek, Paul A. Crossey, Frances M. Richards, Paul Cairns, Nabeel A. Affara, Malcolm A. Ferguson-Smith, Charles H.CM. Buys, and Eamonn R. Maher: Somatic mutations of the von Hippel — Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma
Hum. Mol. Genet. 1994 3: 2169-2173; doi:10.1093/hmg/3.12.2169 [Abstract] [PDF] [Request Permissions]

Mark I. Rees, Martin Andrew, Sudad Jawad, and Michael J. Owen: Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the ${alpha}$ ₁ subunit of the inhibitory glycine receptor
Hum. Mol. Genet. 1994 3: 2175-2179; doi:10.1093/hmg/3.12.2175 [Abstract] [PDF] [Request Permissions]

Michael S. Phillips, Vijay K. Khanna, Stella De Leon, Wanda Frodls, Beverley A. Britts, and David H. MacLennan: The substitution of Arg for Gly²⁴³³ in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia
Hum. Mol. Genet. 1994 3: 2181-2186; doi:10.1093/hmg/3.12.2181 [Abstract] [PDF] [Request Permissions]

Dletmar R. Lohmann, Birglt Brandt, Wolfgang Höpping, Eberhard Passarge, and Bernhard Horsthemke: Spectrum of small length germline mutations in the RB1 gene
Hum. Mol. Genet. 1994 3: 2187-2193; doi:10.1093/hmg/3.12.2187 [Abstract] [PDF] [Request Permissions]

Catriona MacGeoch, Julia A.Newton Bishop, Veronique Batallle, D.Timothy Bishop, Anne-Maria Frischauf, Rolando Melonl, Jack Cuzlck, Elizabeth Plnney, and Nigel K. Spurr: Genetic heterogeneity in familial malignant melanoma
Hum. Mol. Genet. 1994 3: 2195-2200; doi:10.1093/hmg/3.12.2195 [Abstract] [PDF] [Request Permissions]

A. Forlino, F. Zolezzi, M. Valli, P.F. Pignatti, G. Cetta, P.C. Brunelli, and M. Mottes: Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix
Hum. Mol. Genet. 1994 3: 2201-2206; doi:10.1093/hmg/3.12.2201 [Abstract] [PDF] [Request Permissions]

Markus M. Nöthen, Sven Cichon, Susanne Hemmer, Johannes Hebebrand, Helmut Remschmidt, Gerd Lehmkuhl, Fritz Poustka, Martin Schmidt, Marco Catalano, Rolf Fimmers, Judith Kömer, Marcella Rletschel, and Peter Propping: Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity
Hum. Mol. Genet. 1994 3: 2207-2212; doi:10.1093/hmg/3.12.2207 [Abstract] [PDF] [Request Permissions]

Monique M.P. Hermans, Esther De Graaff, Marian A. Kroos, Serita Mohkamsing, Bert J. Eussen, Marijke Joosse, Rob Willemsen, Wim J. Kleijer, Ben A. Oostra, and Arnold J.J. Reuser: The effect of a single base pair deletion ( ${Delta}$ T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal ${alpha}$ -glucosidase in patients with glycogen storage disease type II
Hum. Mol. Genet. 1994 3: 2213-2218; doi:10.1093/hmg/3.12.2213 [Abstract] [PDF] [Request Permissions]

Hassan Chaib, Geneviéve Lina-Granade, Parry Guilford, Henri Plauchu, Jacqueline Levilliers, Alain Morgon, and Christine Petit: A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
Hum. Mol. Genet. 1994 3: 2219-2222; doi:10.1093/hmg/3.12.2219 [Abstract] [PDF] [Request Permissions]

Tllna Paunlo, Hannele Kangas, Nisse Kalkklnen, Matti Haltia, Jorma Palo, and Leena Peltonen: Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment
Hum. Mol. Genet. 1994 3: 2223-2229; doi:10.1093/hmg/3.12.2223 [Abstract] [PDF] [Request Permissions]

M.L. Hule, A.S. Chen, S. Tsujino, S. Shanske, S. DiMauro, A.G. Engel, and R. Hirschhorn: Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T $->$ G) mutation in a majority of patients and a novel IVS10 (+ 1GT $->$ CT) mutation
Hum. Mol. Genet. 1994 3: 2231-2236; doi:10.1093/hmg/3.12.2231 [Abstract] [PDF] [Request Permissions]

Minna Peltola, David Chiatayat, Leena Peltonen, and Anu Jalanko: Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon
Hum. Mol. Genet. 1994 3: 2237-2242; doi:10.1093/hmg/3.12.2237 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Yasukazu Yamada, Haruko Goto, Takaji Murase, and Nobuaki Ogasawara: Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations
Hum. Mol. Genet. 1994 3: 2243-2245; doi:10.1093/hmg/3.12.2243 [PDF] [Request Permissions]

Marina I. Gutiérrez, Kishor G. Bhatla, Cristina Berreiro, Gordon Spangler, Enrique Schvartzmann, Federico Sackmann Muriel, and lan T. Magrath: A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors
Hum. Mol. Genet. 1994 3: 2247-2248; doi:10.1093/hmg/3.12.2247 [PDF] [Request Permissions]

Hul Teng, Harry Cuppens, Christine De Boeck, and Jean-Jacques Cassiman: Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population
Hum. Mol. Genet. 1994 3: 2249-2250; doi:10.1093/hmg/3.12.2249 [PDF] [Request Permissions]

Rodney J. Folz, Laura Peno-Green, and James D. Crapo: Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels
Hum. Mol. Genet. 1994 3: 2251-2254; doi:10.1093/hmg/3.12.2251 [PDF] [Request Permissions]

Erik Fransen, Connle Schrander-Stumpel, Lieve Vits, Paul Coucke, Guy Van Camp, and Patrick J. Willems: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
Hum. Mol. Genet. 1994 3: 2255-2256; doi:10.1093/hmg/3.12.2255 [PDF] [Request Permissions]

Vladimir Lazar, Sophie Grandjouan, Caroline Bognel, Daniel Couturier, Philippe Rougier, Dominique Bellet, and Brigitte Bressac-de Paillerets: Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients
Hum. Mol. Genet. 1994 3: 2257-2260; doi:10.1093/hmg/3.12.2257 [PDF] [Request Permissions]

Markus Kostrzewa, Uta Burck-Lehmann, and Ulrich Müller: Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene
Hum. Mol. Genet. 1994 3: 2261-2262; doi:10.1093/hmg/3.12.2261 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

P. Gregor, M. Hoff, J. Holik, D. Hadley, N. Fang, H. Coon, and W. Byerley: Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)
Hum. Mol. Genet. 1994 3: 2263; doi:10.1093/hmg/3.12.2263 [PDF] [Request Permissions]

M.J.M. Bugalho, G. J. Cote, S. Khorana, P.N. Schutz, and R.F. Gagel: Identification of a polymorphism in exon 11 of the RET proto-oncogene
Hum. Mol. Genet. 1994 3: 2263; doi:10.1093/hmg/3.12.2263-a [PDF] [Request Permissions]

R. D. Henkel, L. V. Galindo, and T. P. Dooley: AnEcoRI RFLP in human phenol sulfotransferase genes
Hum. Mol. Genet. 1994 3: 2264; doi:10.1093/hmg/3.12.2264 [PDF] [Request Permissions]

M. Curran and M. Keating: A polymorphic dinucleotide repeat in the second intron of HUMCLC
Hum. Mol. Genet. 1994 3: 2264; doi:10.1093/hmg/3.12.2264-a [PDF] [Request Permissions]

H. Mochizuki and M. Prochazka: Dinucleotide repeat polymorphism at the PPP1CA locus on 11q13
Hum. Mol. Genet. 1994 3: 2265; doi:10.1093/hmg/3.12.2265 [PDF] [Request Permissions]

R. A. Herbst, T. Nobori, W. K. Cavenee, D. A. Carson, and K. C. Arden: Dinucleotide repeat polymorphism adjacent to CDKN2
Hum. Mol. Genet. 1994 3: 2265; doi:10.1093/hmg/3.12.2265-a [PDF] [Request Permissions]

A. Fullan and W. Thomas: A polymorphic dinucleotide repeat at the human HLA-F locus
Hum. Mol. Genet. 1994 3: 2266; doi:10.1093/hmg/3.12.2266 [PDF] [Request Permissions]

G. S. Bova, D. S. Wechsler, C. Van Dang, and W. B. Isaacs: Taql polymorphism of the human MXI1 gene
Hum. Mol. Genet. 1994 3: 2266; doi:10.1093/hmg/3.12.2266-a [PDF] [Request Permissions]

H. Watkins, C.A. MacRae, D.A. Fischman, J.G. Seidman, and C.E. Seidman: A dinucleotide repeat polymorphism in the MYBPH gene
Hum. Mol. Genet. 1994 3: 2267; doi:10.1093/hmg/3.12.2267 [PDF] [Request Permissions]

P.S. Bora, C.M. Smith, E.J. Devor, C.R. Cloninger, and D.S. Gerhard: Hinfl polymorphism detected by FAEES3 cDNA
Hum. Mol. Genet. 1994 3: 2267; doi:10.1093/hmg/3.12.2267-a [PDF] [Request Permissions]

W. Just, W. Rau, R. Müller, C. Geerkens, and W. Vogel: Dinucleotide repeat polymorphism at the human biglycan (BGN) locus
Hum. Mol. Genet. 1994 3: 2268; doi:10.1093/hmg/3.12.2268 [PDF] [Request Permissions]

J. Wijnen, R. Fodde, and P. Meera Khan: DGGE polymorphism in intron 10 of MSH2, the HNPCC gene
Hum. Mol. Genet. 1994 3: 2268; doi:10.1093/hmg/3.12.2268-a [PDF] [Request Permissions]

V. Allamand, F. Leturcq, F. Piccoto, M. Jeanpierre, K. Azibi, S.L. Roberds, L.E. Lim, K.P. Campbell, J.S. Beckmann, and J.C. Kaplan: Adhalin gene polymorphism
Hum. Mol. Genet. 1994 3: 2269; doi:10.1093/hmg/3.12.2269 [PDF] [Request Permissions]

C. Aslanidis, K.J. Lackner, and G. Schmitz: Tri- and tetranucleotide repeat polymorphism in the LIPA gene
Hum. Mol. Genet. 1994 3: 2269; doi:10.1093/hmg/3.12.2269-a [PDF] [Request Permissions]

N.F. Box and R.A. Sturm: Dinucleotide repeat polymorphism at the human TYRP1 locus
Hum. Mol. Genet. 1994 3: 2270; doi:10.1093/hmg/3.12.2270 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 2271; doi:10.1093/hmg/3.12.2271 [PDF] [Request Permissions]

Annual Subject Index:

: Subject Index
Hum. Mol. Genet. 1994 3: 2273; doi:10.1093/hmg/3.12.2273 [PDF] [Request Permissions]

Annual Author Index:

: Author Index
Hum. Mol. Genet. 1994 3: 2281; doi:10.1093/hmg/3.12.2281 [PDF] [Request Permissions]