Human Molecular Genetics

ARTICLES:

Igor O. Nasonkin, Robert D. Ward, Lori T. Raetzman, Audrey F. Seasholtz, Thomas L. Saunders, Patrick J. Gillespie, and Sally A. Camper

Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2727-2735; doi:10.1093/hmg/ddh311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Adam Pavlicek, Vladimir N. Noskov, Natalay Kouprina, J. Carl Barrett, Jerzy Jurka, and Vladimir Larionov

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2737-2751; doi:10.1093/hmg/ddh301 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Santiago Ropero, Fernando Setien, Jesus Espada, Mario F. Fraga, Michel Herranz, Julia Asp, Maria Serena Benassi, Alessandro Franchi, Ana Patiño, Laura S. Ward, Judith Bovee, Juan C. Cigudosa, Wuyts Wim, and Manel Esteller

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2753-2765; doi:10.1093/hmg/ddh298 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Boris Kantor, Yotam Kaufman, Kirill Makedonski, Aharon Razin, and Ruth Shemer

Establishing the epigenetic status of the Prader–Willi/Angelman imprinting center in the gametes and embryo
Human Molecular Genetics Advance Access published on September 14, 2004
Hum. Mol. Genet. 2004 13: 2767-2779; doi:10.1093/hmg/ddh290 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anna Cariboni, Federica Pimpinelli, Sophia Colamarino, Roberta Zaninetti, Margherita Piccolella, Cristiano Rumio, Flavio Piva, Elena I. Rugarli, and Roberto Maggi

The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
Human Molecular Genetics Advance Access published on October 7, 2004
Hum. Mol. Genet. 2004 13: 2781-2791; doi:10.1093/hmg/ddh309 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

André B.P. van Kuilenburg, Rutger Meinsma, Eva Beke, Birgit Assmann, Antonia Ribes, Isabel Lorente, Rebekka Busch, Ertan Mayatepek, Nico G.G.M. Abeling, Arno van Cruchten, Alida E.M. Stroomer, Henk van Lenthe, Lida Zoetekouw, Willem Kulik, Georg F. Hoffmann, Thomas Voit, Ron A. Wevers, Frank Rutsch, and Albert H. van Gennip

ß-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2793-2801; doi:10.1093/hmg/ddh303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Meral Topçu, Florence Jobard, Sophie Halliez, Turgay Coskun, Cengiz Yalçinkayal, Filiz Ozbas Gerceker, Ronald J.A. Wanders, Jean-François Prud'homme, Mark Lathrop, Meral Özguc, and Judith Fischer

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2803-2811; doi:10.1093/hmg/ddh300 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Colleen M. Elso, Xiaochen Lu, Cymbeline T. Culiat, Joe C. Rutledge, Nestor L.A. Cacheiro, Walderico M. Generoso, and Lisa J. Stubbs

Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2813-2821; doi:10.1093/hmg/ddh307 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jing Zhang, Fei Li, Jun Li, Michael Q. Zhang, and Xuegong Zhang

Evidence and characteristics of putative human recombination hotspots
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2823-2828; doi:10.1093/hmg/ddh310 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Robert G. Kelly, Loydie A. Jerome-Majewska, and Virginia E. Papaioannou

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2829-2840; doi:10.1093/hmg/ddh304 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jeffrey W. Innis, Douglas Mortlock, Zhi Chen, Michael Ludwig, Melissa E. Williams, Thomas M. Williams, Colleen D. Doyle, Zhihong Shao, Michael Glynn, Davor Mikulic, Katarina Lehmann, Stefan Mundlos, and Boris Utsch

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2841-2851; doi:10.1093/hmg/ddh306 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yves De Repentigny, Philip Marshall, Ronald G. Worton, and Rashmi Kothary

The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2853-2862; doi:10.1093/hmg/ddh305 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jane Beatham, Rosario Romero, Stuart K.M. Townsend, Terry Hacker, Peter F.M. van der Ven, and Gonzalo Blanco

Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2863-2874; doi:10.1093/hmg/ddh308 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joanna Gonsalves, Fei Sun, Peter N. Schlegel, Paul J. Turek, Carin V. Hopps, Calvin Greene, Renee H. Martin, and Renee A. Reijo Pera

Defective recombination in infertile men
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2875-2883; doi:10.1093/hmg/ddh302 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicholas J. Bray, Luke Jehu, Valentina Moskvina, Joseph D. Buxbaum, Stella Dracheva, Vahram Haroutunian, Julie Williams, Paul R. Buckland, Michael J. Owen, and Michael C. O'Donovan

Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes
Human Molecular Genetics Advance Access published on September 22, 2004
Hum. Mol. Genet. 2004 13: 2885-2892; doi:10.1093/hmg/ddh299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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