Human Molecular Genetics

MINI REVIEW:

John A. Todd

La carte des microsatellites est arrivée!
Hum. Mol. Genet. 1992 1: 663-666; doi:10.1093/hmg/1.9.663 [PDF] [Request Permissions]  

COMMENTARY:

Huntington F. Willard

Centromeres-primary constrictions are primarily complicated
Hum. Mol. Genet. 1992 1: 667-668; doi:10.1093/hmg/1.9.667 [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Y.P. Goldberg, B.-Y. Lin, S.E. Andrew, J. Nasir, R. Graham, M.L. Glaves, G. Hutchinson, J. Theilmann, D.G. Ginzinger, K. Schappert, L. Clarke, J.M. Rommens, and M.R. Hayden

Cloning and mapping of the -adducin gene close to D4S95 and assessment of its relationship to Huntington disease
Hum. Mol. Genet. 1992 1: 669-675; doi:10.1093/hmg/1.9.669 [Abstract] [PDF] [Request Permissions]  

Lynn Harrison, Gian Ascione, John C. Menninger, David C. Ward, and Bruce Demple

Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 1 4q11.2 – 12)
Hum. Mol. Genet. 1992 1: 677-680; doi:10.1093/hmg/1.9.677 [Abstract] [PDF] [Request Permissions]  

Athena Milatovich, Chih-Lin Hsieh, Giulia Bonaminio, Larry Tecott, and Uta Francke

Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4)
Hum. Mol. Genet. 1992 1: 681-684; doi:10.1093/hmg/1.9.681 [Abstract] [PDF] [Request Permissions]  

Edwin M. Stone, Alan E. Kimura, James C. Folk, Steven R. Bennett, Brian E. Nichols, Luan M. Streb, and Val C. Sheffield

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13
Hum. Mol. Genet. 1992 1: 685-689; doi:10.1093/hmg/1.9.685 [Abstract] [PDF] [Request Permissions]  

Christine Ambrose, Marianne James, Glenn Barnes, Carol Lin, Gillian Bates, Michael Altherr, Mabel Duyao, Nicolet Groot, Deanna Church, John J. Wasmuth, Hans Lehrach, David Housman, Alan Buckler, James F. Gusella, and Marcy E. MacDonald

A novel G protein-coupled receptor kinase gene cloned from 4p16.3
Hum. Mol. Genet. 1992 1: 697-703; doi:10.1093/hmg/1.9.697 [Abstract] [PDF] [Request Permissions]  

Mutsuko Miyagi, Johji Inazawa, Ken-ichi Takita, and Yusuke Nakamura

Cloning and characterization of an interstitial deletion at chromosome 11p15 in a sporadic breast cancer
Hum. Mol. Genet. 1992 1: 705-708; doi:10.1093/hmg/1.9.705 [Abstract] [PDF] [Request Permissions]  

R.J. Lipscombe, M. Sumiya, A.V.S. Hill, Y.L. Lau, R.J. Levinsky, J.A. Summerfield, and M.W. Turner

High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene
Hum. Mol. Genet. 1992 1: 709-715; doi:10.1093/hmg/1.9.709 [Abstract] [PDF] [Request Permissions]  

Julie S. Zhang, Teresa L. Yang-Feng, Ulrich Muller, T.K. Mohandas, Pieter J. de Jong, and Yan-Fai Chris Lau

Molecular isolation and characterization of an expressed gene from the human Y chromosome
Hum. Mol. Genet. 1992 1: 717-726; doi:10.1093/hmg/1.9.717 [Abstract] [PDF] [Request Permissions]  

Daniel H. Johnson, Peter M. Kroisel, Helene J. Klapper, and Walter Rosenkranz

Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA
Hum. Mol. Genet. 1992 1: 741-747; doi:10.1093/hmg/1.9.741 [Abstract] [PDF] [Request Permissions]  

SHORT REPORTS:

Niolette I. McGill, Judith Fantes, and Howard Cooke

CM8, a human sequence with putative centromeric function, does not map to the centromere but is present in one to two copies at 9qter
Hum. Mol. Genet. 1992 1: 749-751; doi:10.1093/hmg/1.9.749 [Abstract] [PDF] [Request Permissions]  

Katrina F. Cooper and Chris Tyler-Smith

The putative centromere-forming sequence CM8 is a single copy sequence and is not a component of most human centrnmeres
Hum. Mol. Genet. 1992 1: 753-754; doi:10.1093/hmg/1.9.753 [PDF] [Request Permissions]  

Paul L. Crotty, Stephen E. Braun, Rose Ann Anderson, and Chester B. Whitley

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression
Hum. Mol. Genet. 1992 1: 755-757; doi:10.1093/hmg/1.9.755 [PDF] [Request Permissions]  

Maria Fernandes, Feige Kaplan, Marvin Natowicz, Elizabeth Prence, Edwin Kolodny, Michael Kaback, and Peter Hachtman

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
Hum. Mol. Genet. 1992 1: 759-761; doi:10.1093/hmg/1.9.759 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Jadwiga Jeruzelska, Dominique Melle, Renata Matuszak, Krzysztof Borski, and Arnold Munnich

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria
Hum. Mol. Genet. 1992 1: 763-764; doi:10.1093/hmg/1.9.763 [PDF] [Request Permissions]  

Lourdes R. Desviat, Belén Pérez, and Magdalena Ugarte

A new PKU mutation associated with haplotype 12
Hum. Mol. Genet. 1992 1: 765-766; doi:10.1093/hmg/1.9.765 [PDF] [Request Permissions]  

Z.P. Zhang, G. Falk, M. Blombäck, N. Egberg, and M. Anveret

A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients
Hum. Mol. Genet. 1992 1: 767-768; doi:10.1093/hmg/1.9.767 [PDF] [Request Permissions]  

G.J. Farrar, J.B.C. Findlay, R. Kumar-Singh, P. Kenna, M.M. Humphries, E. Sharpe, and P. Humphries

Autosomal dominant Retinitis Pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family
Hum. Mol. Genet. 1992 1: 769-771; doi:10.1093/hmg/1.9.769 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

Y. Shen, A.T. Thompson, K. Holman, D.F. Callen, G.R. Sutherland, and R.I. Richards

Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D1 6S320
Hum. Mol. Genet. 1992 1: 773; doi:10.1093/hmg/1.9.773 [PDF] [Request Permissions]  

Helen M. Brereton, David R. Turner, Frank A. Firgaira, and Richard E. Ruffin

A highly polymorphic polypurine sequence on chromosome 8 (D8S210)
Hum. Mol. Genet. 1992 1: 774; doi:10.1093/hmg/1.9.774 [PDF] [Request Permissions]  

Gregory J. Riggins, Laurie K. Lokey, and Stephen T. Warren

CCG repeat polymorphism at the c-Ha-ras oncogene locus
Hum. Mol. Genet. 1992 1: 775; doi:10.1093/hmg/1.9.775 [PDF] [Request Permissions]  

A.R.J. Curtis, P. Roustan, S. Kamakari, D. Thiselton, S. Lindsay, and S.S. Bhattacharya

Two dinucleotide repeat polymorphisms at the DXS571 locus
Hum. Mol. Genet. 1992 1: 776; doi:10.1093/hmg/1.9.776 [PDF] [Request Permissions]  

Ruth A. Decker, Bruce A. Ponder, Sara E. Mole, and James L. Weber

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci
Hum. Mol. Genet. 1992 1: 777; doi:10.1093/hmg/1.9.777 [PDF] [Request Permissions]  

P. Roustan, A.R.J. Curtis, S. Kamakari, D. Thiselton, S. Lindsay, and S.S. Bhattacharya

Dinucleotide repeat polymorphism at the DXS559 locus
Hum. Mol. Genet. 1992 1: 778; doi:10.1093/hmg/1.9.778 [PDF] [Request Permissions]  

James T. Warren, Jr, L.Peacock Michael, and John K. Fink

An Rsal polymorphism in the human serotonin receptor gene (HTR1A): detection by DGGE and RFLP analysis
Hum. Mol. Genet. 1992 1: 778; doi:10.1093/hmg/1.9.778-a [PDF] [Request Permissions]  

Kathleen A. Mills, DeeAnn Even, and Jeffray C. Murray

Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)
Hum. Mol. Genet. 1992 1: 779; doi:10.1093/hmg/1.9.779 [PDF] [Request Permissions]  

Mihael H. Polymeropoulos, Hong Xiao, and Carl R. Merril

Dinucleotide repeat polymorphism at the D18S74E locus
Hum. Mol. Genet. 1992 1: 779; doi:10.1093/hmg/1.9.779-a [PDF] [Request Permissions]  

Z.P. Zhang, L.P. Deng, M. Blombäck, and M. Anvret

Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene)
Hum. Mol. Genet. 1992 1: 780; doi:10.1093/hmg/1.9.780 [PDF] [Request Permissions]  

Y. Wang, L. Sadler, and J.T. Hecht

Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene
Hum. Mol. Genet. 1992 1: 780; doi:10.1093/hmg/1.9.780-a [PDF] [Request Permissions]  

E. Rogaev, E. Rogaeva, W.J. Lukiw, G. Vaula, Y. Liang, R. Hancock, D.Crapper McLachlan, and P.H. St George-Hyslop

An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene
Hum. Mol. Genet. 1992 1: 781; doi:10.1093/hmg/1.9.781 [PDF] [Request Permissions]  

B.C. Hennis, A.C. Havelaar, and C. Kluft

PCR detection of a dinucleotide repeat in the human histidine-rich glycoprotein (HRG) gene
Hum. Mol. Genet. 1992 1: 781; doi:10.1093/hmg/1.9.781-a [PDF] [Request Permissions]  

J. Goto, D.A. Figlewicz, A. Gnirke, N. Khodr, A. Krizus, and G.A. Rouleau

Dinucleotide repeat polymorphism at the D21S219 locus which flanks the GARS-AIRS-GART gene
Hum. Mol. Genet. 1992 1: 782; doi:10.1093/hmg/1.9.782 [PDF] [Request Permissions]  

Jay Ellison, Catherine Alles, and Larry Shapiro

A common EcoRI polymorphism at the ZFX locus
Hum. Mol. Genet. 1992 1: 782; doi:10.1093/hmg/1.9.782-a [PDF] [Request Permissions]  

Author Index:

Author index
Hum. Mol. Genet. 1992 1: 783; doi:10.1093/hmg/1.9.783 [PDF] [Request Permissions]  

Corrigendum:

A. Kuwano, A. Mutirangura, B. Dittrich, K. Buiting, B. Horsthemke, S. Saitoh, N. Niikawa, S.A. Ledbetter, F. Greenberg, A.C. Chinault, and D.H. Ledbetter

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis
Hum. Mol. Genet. 1992 1: 784; doi:10.1093/hmg/1.9.784 [Abstract] [PDF] [Request Permissions]  

Annual Subject Index:

Subject Index
Hum. Mol. Genet. 1992 1: 785-789; doi:10.1093/hmg/1.9.785 [PDF] [Request Permissions]  

Annual Author Index:

Author Index
Hum. Mol. Genet. 1992 1: 791-794; doi:10.1093/hmg/1.9.791 [PDF] [Request Permissions]  

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.