Human Molecular Genetics

COMMENTARIES

Nelson B. Freimer and Chiara Sabatti

Guidelines for association studies in Human Molecular Genetics
Human Molecular Genetics Advance Access published on July 21, 2005
Hum. Mol. Genet. 2005 14: 2481-2483; doi:10.1093/hmg/ddi251 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

Margaret G. Ehm, Matthew R. Nelson, and Nigel K. Spurr

Guidelines for conducting and reporting whole genome/large-scale association studies
Human Molecular Genetics Advance Access published on July 21, 2005
Hum. Mol. Genet. 2005 14: 2485-2488; doi:10.1093/hmg/ddi252 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

Martin Farrall

Interpreting gene-association studies
Human Molecular Genetics Advance Access published on August 2, 2005
Hum. Mol. Genet. 2005 14: 2489; doi:10.1093/hmg/ddi253 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

ARTICLES

Get checked abstract Julie Turnbull, Hannes Lohi, Jennifer A. Kearney, Guy A. Rouleau, Antonio V. Delgado-Escueta, Miriam H. Meisler, Patrick Cossette, and Berge A. Minassian

Sacred disease secrets revealed: the genetics of human epilepsy
Human Molecular Genetics Advance Access published on July 27, 2005
Hum. Mol. Genet. 2005 14: 2491-2500; doi:10.1093/hmg/ddi250 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Patrick G. Gallagher, Douglas G. Nilson, Clara Wong, Jessica L. Weisbein, Lisa J. Garrett-Beal, Stephan W. Eber, and David M. Bodine

A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis
Human Molecular Genetics Advance Access published on July 21, 2005
Hum. Mol. Genet. 2005 14: 2501-2509; doi:10.1093/hmg/ddi254 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Yoko Yamasaki, Tomohiko Kayashima, Hidenobu Soejima, Akira Kinoshita, Ko-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Takeshi Urano, Hideaki Masuzaki, Tadayuki Ishimaru, Tsunehiro Mukai, Norio Niikawa, and Tatsuya Kishino

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air
Human Molecular Genetics Advance Access published on July 21, 2005
Hum. Mol. Genet. 2005 14: 2511-2520; doi:10.1093/hmg/ddi255 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jon S. Zawistowski, Lisa Stalheim, Mark T. Uhlik, Amy N. Abell, Brooke B. Ancrile, Gary L. Johnson, and Douglas A. Marchuk

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis
Human Molecular Genetics Advance Access published on July 21, 2005
Hum. Mol. Genet. 2005 14: 2521-2531; doi:10.1093/hmg/ddi256 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Manuela Sironi, Giorgia Menozzi, Giacomo P. Comi, Rachele Cagliani, Nereo Bresolin, and Uberto Pozzoli

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences
Human Molecular Genetics Advance Access published on July 21, 2005
Hum. Mol. Genet. 2005 14: 2533-2546; doi:10.1093/hmg/ddi257 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Anne Galy, Michel Joseph Roux, José Alain Sahel, Thierry Léveillard, and Angela Giangrande

Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for Rhodopsin^Pro23His human retinitis pigmentosa
Human Molecular Genetics Advance Access published on July 27, 2005
Hum. Mol. Genet. 2005 14: 2547-2557; doi:10.1093/hmg/ddi258 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Ying Chen, William P. Bellamy, Miguel C. Seabra, Mark C. Field, and Bassam R. Ali

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome
Human Molecular Genetics Advance Access published on July 27, 2005
Hum. Mol. Genet. 2005 14: 2559-2569; doi:10.1093/hmg/ddi259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Sathya R. Sriram, Xiaojie Li, Han Seok Ko, Kenny K.K. Chung, Esther Wong, Kah Leong Lim, Valina L. Dawson, and Ted M. Dawson

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin
Human Molecular Genetics Advance Access published on July 27, 2005
Hum. Mol. Genet. 2005 14: 2571-2586; doi:10.1093/hmg/ddi292 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Brendan J. Battersby, Margaret E. Redpath, and Eric A. Shoubridge

Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides
Human Molecular Genetics Advance Access published on July 27, 2005
Hum. Mol. Genet. 2005 14: 2587-2594; doi:10.1093/hmg/ddi293 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jussi Naukkarinen, Massimiliano Gentile, Aino Soro-Paavonen, Janna Saarela, Heikki A. Koistinen, Päivi Pajukanta, Marja-Riitta Taskinen, and Leena Peltonen

USF1 and dyslipidemias: converging evidence for a functional intronic variant
Human Molecular Genetics Advance Access published on August 2, 2005
Hum. Mol. Genet. 2005 14: 2595-2605; doi:10.1093/hmg/ddi294 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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