Human Molecular Genetics

ARTICLES:

Sabine Duchatelet, Elsebet Ostergaard, Dina Cortes, Arnaud Lemainque, and Cécile Julier

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
Human Molecular Genetics Advance Access published on November 3, 2004
Hum. Mol. Genet. 2005 14: 1-5; doi:10.1093/hmg/ddi001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thien Phong Vu Manh, Mustapha Mokrane, Emmanuelle Georgenthum, Jeanne Flavigny, Lucie Carrier, Michel Sémériva, Michel Piovant, and Laurence Röder

Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies
Human Molecular Genetics Advance Access published on November 3, 2004
Hum. Mol. Genet. 2005 14: 7-17; doi:10.1093/hmg/ddi002 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Evan Reid, James Connell, Thomas L. Edwards, Simon Duley, Stephanie E. Brown, and Christopher M. Sanderson

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
Human Molecular Genetics Advance Access published on November 10, 2004
Hum. Mol. Genet. 2005 14: 19-38; doi:10.1093/hmg/ddi003 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Åsa Petersén, Joana Gil, Marion L.C. Maat-Schieman, Maria Björkqvist, Heikki Tanila, Inês M. Araújo, Ruben Smith, Natalija Popovic, Nils Wierup, Per Norlén, Jia-Yi Li, Raymund A.C. Roos, Frank Sundler, Hindrik Mulder, and Patrik Brundin

Orexin loss in Huntington's disease
Human Molecular Genetics Advance Access published on November 3, 2004
Hum. Mol. Genet. 2005 14: 39-47; doi:10.1093/hmg/ddi004 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yien-Ming Kuo, Jacque L. Duncan, Shawn K. Westaway, Haidong Yang, George Nune, Eugene Yujun Xu, Susan J. Hayflick, and Jane Gitschier

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
Human Molecular Genetics Advance Access published on November 3, 2004
Hum. Mol. Genet. 2005 14: 49-57; doi:10.1093/hmg/ddi005 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Tushar R. Bhangale, Mark J. Rieder, Robert J. Livingston, and Deborah A. Nickerson

Comprehensive identification and characterization of diallelic insertion–deletion polymorphisms in 330 human candidate genes
Human Molecular Genetics Advance Access published on November 3, 2004
Hum. Mol. Genet. 2005 14: 59-69; doi:10.1093/hmg/ddi006 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Darren J. Moore, Li Zhang, Juan Troncoso, Michael K. Lee, Nobutaka Hattori, Yoshikuni Mizuno, Ted M. Dawson, and Valina L. Dawson

Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress
Human Molecular Genetics Advance Access published on November 3, 2004
Hum. Mol. Genet. 2005 14: 71-84; doi:10.1093/hmg/ddi007 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anderly C. Chueh, Lee H. Wong, Nicholas Wong, and K.H. Andy Choo

Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere
Human Molecular Genetics Advance Access published on November 10, 2004
Hum. Mol. Genet. 2005 14: 85-93; doi:10.1093/hmg/ddi008 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Jie Liu, Julie G. Nealon, and Lee S. Weinstein

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
Human Molecular Genetics Advance Access published on November 10, 2004
Hum. Mol. Genet. 2005 14: 95-102; doi:10.1093/hmg/ddi009 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Qing Yin Zheng, Denise Yan, Xiao Mei Ouyang, Li Lin Du, Heping Yu, Bo Chang, Kenneth R. Johnson, and Xue Zhong Liu

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
Human Molecular Genetics Advance Access published on November 10, 2004
Hum. Mol. Genet. 2005 14: 103-111; doi:10.1093/hmg/ddi010 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Catherine E. Keegan, Janna E. Hutz, Tobias Else, Maja Adamska, Sonalee P. Shah, Amy E. Kent, John M. Howes, Wesley G. Beamer, and Gary D. Hammer

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator
Human Molecular Genetics Advance Access published on November 10, 2004
Hum. Mol. Genet. 2005 14: 113-123; doi:10.1093/hmg/ddi011 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

P. Shashidharan, D. Sandu, U. Potla, I.A. Armata, R.H. Walker, K.S. McNaught, D. Weisz, T. Sreenath, M.F. Brin, and C.W. Olanow

Transgenic mouse model of early-onset DYT1 dystonia
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 125-133; doi:10.1093/hmg/ddi012 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Luda Diatchenko, Gary D. Slade, Andrea G. Nackley, Konakporn Bhalang, Asgeir Sigurdsson, Inna Belfer, David Goldman, Ke Xu, Svetlana A. Shabalina, Dmitry Shagin, Mitchell B. Max, Sergei S. Makarov, and William Maixner

Genetic basis for individual variations in pain perception and the development of a chronic pain condition
Human Molecular Genetics Advance Access published on November 10, 2004
Hum. Mol. Genet. 2005 14: 135-143; doi:10.1093/hmg/ddi013 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

N. Maniatis, N.E. Morton, J. Gibson, C.-F. Xu, L.K. Hosking, and A. Collins

The optimal measure of linkage disequilibrium reduces error in association mapping of affection status
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 145-153; doi:10.1093/hmg/ddi019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takuro Arimura, Anne Helbling-Leclerc, Catherine Massart, Shaida Varnous, Florence Niel, Emmanuelle Lacène, Yves Fromes, Marcel Toussaint, Anne-Marie Mura, Dagmar I. Keller, Helge Amthor, Richard Isnard, Marie Malissen, Ketty Schwartz, and Gisèle Bonne

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 155-169; doi:10.1093/hmg/ddi017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dalila Pinto, Birgit Westland, Gerrit-Jan de Haan, Gabrielle Rudolf, Berta Martins da Silva, Edouard Hirsch, Dick Lindhout, Dorothée G.A. Kasteleijn-Nolst Trenité, and Bobby P.C. Koeleman

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 171-178; doi:10.1093/hmg/ddi018 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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