Human Molecular Genetics

ARTICLES:

C Huxley, E Passage, A Manson, G Putzu, D Figarella-Branger, JF Pellissier, and M Fontes

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA
Hum. Mol. Genet. 1996 5: 563-569; doi:10.1093/hmg/5.5.563 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MA Crackower, SW Scherer, JM Rommens, CC Hui, P Poorkaj, S Soder, JM Cobben, L Hudgins, JP Evans, and LC Tsui

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
Hum. Mol. Genet. 1996 5: 571-579; doi:10.1093/hmg/5.5.571 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC van Deutekom, RJ Lemmers, PK Grewal, M van Geel, S Romberg, HG Dauwerse, TJ Wright, GW Padberg, MH Hofker, JE Hewitt, and RR Frants

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
Hum. Mol. Genet. 1996 5: 581-590; doi:10.1093/hmg/5.5.581 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RR Ali, MB Reichel, AJ Thrasher, RJ Levinsky, C Kinnon, N Kanuga, DM Hunt, and SS Bhattacharya

Gene transfer into the mouse retina mediated by an adeno-associated viral vector
Hum. Mol. Genet. 1996 5: 591-594; doi:10.1093/hmg/5.5.591 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Gracia, U Fischer, A elKahloun, JM Trent, E Meese, and PS Meltzer

Isolation of genes amplified in human cancers by microdissection mediated cDNA capture
Hum. Mol. Genet. 1996 5: 595-600; doi:10.1093/hmg/5.5.595 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Baron, KK Winer, JA Yanovski, AW Cunningham, L Laue, D Zimmerman, and GB Cutler, Jr

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism
Hum. Mol. Genet. 1996 5: 601-606; doi:10.1093/hmg/5.5.601 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RL Margolis, OC Stine, MG McInnis, NG Ranen, DC Rubinsztein, J Leggo, LV Brando, AS Kidwai, SJ Loev, TS Breschel, C Callahan, SG Simpson, JR DePaulo, FJ McMahon, S Jain, ES Paykel, C Walsh, LE DeLisi, TJ Crow, EF Torrey, RG Ashworth, JP Macke, J Nathans, and CA Ross

cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat
Hum. Mol. Genet. 1996 5: 607-616; doi:10.1093/hmg/5.5.607 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Sirotkin, B Morrow, R DasGupta, R Goldberg, SR Patanjali, G Shi, L Cannizzaro, R Shprintzen, SM Weissman, and R Kucherlapati

Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome
Hum. Mol. Genet. 1996 5: 617-624; doi:10.1093/hmg/5.5.617 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Kedra, M Peyrard, I Fransson, JE Collins, I Dunham, BA Roe, and JP Dumanski

Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11
Hum. Mol. Genet. 1996 5: 625-631; doi:10.1093/hmg/5.5.625 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Demczuk, G Thomas, and A Aurias

Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes
Hum. Mol. Genet. 1996 5: 633-638; doi:10.1093/hmg/5.5.633 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FM Richards, PN Schofield, S Fleming, and ER Maher

Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis
Hum. Mol. Genet. 1996 5: 639-644; doi:10.1093/hmg/5.5.639 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Koiwai, S Aono, Y Adachi, T Kamisako, Y Yasui, M Nishizawa, and H Sato

Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait
Hum. Mol. Genet. 1996 5: 645-647; doi:10.1093/hmg/5.5.645 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Hendrickx, E Dams, P Coucke, P Lee, J Fernandes, and PJ Willems

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase
Hum. Mol. Genet. 1996 5: 649-652; doi:10.1093/hmg/5.5.649 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Burwinkel, YS Shin, HD Bakker, J Deutsch, MJ Lozano, I Maire, and MW Kilimann

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)
Hum. Mol. Genet. 1996 5: 653-658; doi:10.1093/hmg/5.5.653 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EY Chen, M Zollo, R Mazzarella, A Ciccodicola, CN Chen, L Zuo, C Heiner, F Burough, M Repetto, D Schlessinger, and M D'Urso

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci
Hum. Mol. Genet. 1996 5: 659-668; doi:10.1093/hmg/5.5.659 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Morrison, C Papapetrou, J Attwood, F Hol, SA Lynch, A Sampath, B Hamel, J Burn, J Sowden, D Stott, E Mariman, and YH Edwards

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida
Hum. Mol. Genet. 1996 5: 669-674; doi:10.1093/hmg/5.5.669 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AM Theodosiou, NR Rodrigues, MA Nesbit, HJ Ambrose, H Paterson, E McLellan- Arnold, Y Boyd, MA Leversha, N Owen, DJ Blake, A Ashworth, and KE Davies

A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region
Hum. Mol. Genet. 1996 5: 675-684; doi:10.1093/hmg/5.5.675 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PM Lansdorp, NP Verwoerd, FM van de Rijke, V Dragowska, MT Little, RW Dirks, AK Raap, and HJ Tanke

Heterogeneity in telomere length of human chromosomes
Hum. Mol. Genet. 1996 5: 685-691; doi:10.1093/hmg/5.5.685 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DF Luo, R Buzzetti, JI Rotter, NK Maclaren, LJ Raffel, L Nistico, C Giovannini, P Pozzilli, G Thomson, and JX She

Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8
Hum. Mol. Genet. 1996 5: 693-698; doi:10.1093/hmg/5.5.693 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EI Rogaev, EA Rogaeva, GI Korovaitseva, LA Farrer, AN Petrin, SA Keryanov, S Turaeva, I Chumakov, P St. George-Hyslop, and EK Ginter

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35
Hum. Mol. Genet. 1996 5: 699-703; doi:10.1093/hmg/5.5.699 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AJ Lotery, KT Ennis, G Silvestri, S Nicholl, D McGibbon, AD Collins, and AE Hughes

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p
Hum. Mol. Genet. 1996 5: 705-708; doi:10.1093/hmg/5.5.705 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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