Human Molecular Genetics

ARTICLES:

Andrea M. Peier, Kellie L. McIlwain, Aileen Kenneson, Stephen T. Warren, Richard Paylor, and David L. Nelson

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features
Hum. Mol. Genet. 2000 9: 1145-1159; doi:10.1093/hmg/9.8.1145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carlo Foresta, Alberto Ferlin, and Enrico Moro

Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility
Hum. Mol. Genet. 2000 9: 1161-1169; doi:10.1093/hmg/9.8.1161 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Stefano Colella, Tiziana Nardo, Elena Botta, Alan R. Lehmann, and Miria Stefanini

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis–Cacchione variant of xeroderma pigmentosum
Hum. Mol. Genet. 2000 9: 1171-1175; doi:10.1093/hmg/9.8.1171 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rachel C. Davies, Eva Bratt, and Nicholas D. Hastie

Did nucleotides or amino acids drive evolutionary conservation of the WT1 ±KTS alternative splice?
Hum. Mol. Genet. 2000 9: 1177-1183; doi:10.1093/hmg/9.8.1177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hervé Seznec, Anne-Sophie Lia-Baldini, Chantal Duros, Coralie Fouquet, Céline Lacroix, Hélène Hofmann-Radvanyi, Claudine Junien, and Geneviève Gourdon

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
Hum. Mol. Genet. 2000 9: 1185-1194; doi:10.1093/hmg/9.8.1185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gerbert A. Jansen, Eveline M. Hogenhout, Sacha Ferdinandusse, Hans R. Waterham, Rob Ofman, Cornelis Jakobs, Ola H. Skjeldal, and Ronald J.A. Wanders

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum’s disease
Hum. Mol. Genet. 2000 9: 1195-1200; doi:10.1093/hmg/9.8.1195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christopher Jones, Roman Müllenbach, Paul Grossfeld, Rebecca Auer, Remi Favier, Ken Chien, Michael James, Alan Tunnacliffe, and Finbarr Cotter

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage
Hum. Mol. Genet. 2000 9: 1201-1208; doi:10.1093/hmg/9.8.1201 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P.H. Dixon, N. Weerasekera, K.J. Linton, O. Donaldson, J. Chambers, E. Egginton, J. Weaver, C. Nelson-Piercy, M. de Swiet, G. Warnes, E. Elias, C.F. Higgins, D.G. Johnston, M.I. McCarthy, and C. Williamson

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking
Hum. Mol. Genet. 2000 9: 1209-1217; doi:10.1093/hmg/9.8.1209 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mireille Cossée, Hélène Puccio, Anne Gansmuller, Hana Koutnikova, Andrée Dierich, Marianne LeMeur, Kenneth Fischbeck, Pascal Dollé, and Michel Koenig

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
Hum. Mol. Genet. 2000 9: 1219-1226; doi:10.1093/hmg/9.8.1219 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Salma A. Abdalla, Nadia Pece-Barbara, Sonia Vera, Esther Tapia, Eduardo Paez, Carmelo Bernabeu, and Michelle Letarte

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
Hum. Mol. Genet. 2000 9: 1227-1237; doi:10.1093/hmg/9.8.1227 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard M. Badge, Jane Yardley, Alec J. Jeffreys, and John A. L. Armour

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination
Hum. Mol. Genet. 2000 9: 1239-1244; doi:10.1093/hmg/9.8.1239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Isabelle Valnot, Jürgen-Christoph von Kleist-Retzow, Antoni Barrientos, Marina Gorbatyuk, Jan-Willem Taanman, Blandine Mehaye, Pierre Rustin, Alexander Tzagoloff, Arnold Munnich, and Agnès Rötig

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency
Hum. Mol. Genet. 2000 9: 1245-1249; doi:10.1093/hmg/9.8.1245 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wim Wuyts, William Reardon, Sabine Preis, Tessa Homfray, Alberto Rasore-Quartino, Hans Christians, Patrick J. Willems, and Wim Van Hul

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
Hum. Mol. Genet. 2000 9: 1251-1255; doi:10.1093/hmg/9.8.1251 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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