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Previous Next 		Contents: Volume 16, Number 22, 15 November 2007   [Index by Author] 

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES Back

Alain Martelli, Marie Wattenhofer-Donzé, Stéphane Schmucker, Samuel Bouvet, Laurence Reutenauer, and Hélène Puccio
Frataxin is essential for extramitochondrial Fe–S cluster proteins in mammalian tissues
Human Molecular Genetics Advance Access published on June 27, 2007
Hum. Mol. Genet. 2007 16: 2651-2658; doi:10.1093/hmg/ddm163 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Robert Zivadinov, Bianca Weinstock-Guttman, Ralph Benedict, Miriam Tamaño-Blanco, Sara Hussein, Nadir Abdelrahman, Jackie Durfee, and Murali Ramanathan
Preservation of gray matter volume in multiple sclerosis patients with the Met allele of the rs6265 (Val66Met) SNP of brain-derived neurotrophic factor
Human Molecular Genetics Advance Access published on July 26, 2007
Hum. Mol. Genet. 2007 16: 2659-2668; doi:10.1093/hmg/ddm189 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

May Christine V. Malicdan, Satoru Noguchi, Ikuya Nonaka, Yukiko K. Hayashi, and Ichizo Nishino
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
Human Molecular Genetics Advance Access published on August 18, 2007
Hum. Mol. Genet. 2007 16: 2669-2682; doi:10.1093/hmg/ddm220 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Julie Boyer-Di Ponio, Cécile Wright-Crosnier, Marie-Thérèse Groyer-Picard, Catherine Driancourt, Isabelle Beau, Michelle Hadchouel, and Michèle Meunier-Rotival
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling
Human Molecular Genetics Advance Access published on August 24, 2007
Hum. Mol. Genet. 2007 16: 2683-2692; doi:10.1093/hmg/ddm222 [Abstract] [Full Text] [PDF] [Request Permissions]  

Alessandro Fraldi, Kim Hemsley, Allison Crawley, Alessia Lombardi, Adeline Lau, Leanne Sutherland, Alberto Auricchio, Andrea Ballabio, and John J. Hopwood
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
Human Molecular Genetics Advance Access published on August 27, 2007
Hum. Mol. Genet. 2007 16: 2693-2702; doi:10.1093/hmg/ddm223 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Marian L. Hamshere, Peter A. Holmans, Dimitrios Avramopoulos, Susan S. Bassett, Deborah Blacker, Lars Bertram, Howard Wiener, Nan Rochberg, Rudolph E. Tanzi, Amanda Myers, Fabienne Wavrant-De Vrièze, Rodney Go, Daniele Fallin, Simon Lovestone, John Hardy, Alison Goate, Michael O'Donovan, Julie Williams, and Michael J. Owen
Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease
Human Molecular Genetics Advance Access published on August 27, 2007
Hum. Mol. Genet. 2007 16: 2703-2712; doi:10.1093/hmg/ddm224 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jocelyn M. Bischof, Colin L. Stewart, and Rachel Wevrick
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2713-2719; doi:10.1093/hmg/ddm225 [Abstract] [Full Text] [PDF] [Request Permissions]  

Kurt J. De Vos, Anna L. Chapman, Maria E. Tennant, Catherine Manser, Elizabeth L. Tudor, Kwok-Fai Lau, Janet Brownlees, Steven Ackerley, Pamela J. Shaw, Declan M. McLoughlin, Christopher E. Shaw, P. Nigel Leigh, Christopher C.J. Miller, and Andrew J. Grierson
Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content
Human Molecular Genetics Advance Access published on August 28, 2007
Hum. Mol. Genet. 2007 16: 2720-2728; doi:10.1093/hmg/ddm226 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Maria A. Graziewicz, Rachelle J. Bienstock, and William C. Copeland
The DNA polymerase {gamma} Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine
Human Molecular Genetics Advance Access published on August 27, 2007
Hum. Mol. Genet. 2007 16: 2729-2739; doi:10.1093/hmg/ddm227 [Abstract] [Full Text] [PDF] [Request Permissions]  

Stephen B. Liggett, Reagan J. Kelly, Rohan R. Parekh, Scot J. Matkovich, Bonnie J. Benner, Harvey S. Hahn, Faisal M. Syed, Anita S. Galvez, Karen L. Case, Nancy McGuire, Amy M. Odley, Li Sparks, Sharon L.R. Kardia, and Gerald W. Dorn, II
A functional polymorphism of the G{alpha}q (GNAQ) gene is associated with accelerated mortality in African-American heart failure
Human Molecular Genetics Advance Access published on August 24, 2007
Hum. Mol. Genet. 2007 16: 2740-2750; doi:10.1093/hmg/ddm229 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Emily R. Eden, Xi-Ming Sun, Dilipkumar D. Patel, and Anne K. Soutar
Adaptor protein Disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia
Human Molecular Genetics Advance Access published on August 29, 2007
Hum. Mol. Genet. 2007 16: 2751-2759; doi:10.1093/hmg/ddm232 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

J. Paul Chapple, Karen Anthony, Teresa Rodriguez Martin, Arvind Dev, Thomas A. Cooper, and Jean-Marc Gallo
Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4
Human Molecular Genetics Advance Access published on August 28, 2007
Hum. Mol. Genet. 2007 16: 2760-2769; doi:10.1093/hmg/ddm233 [Abstract] [Full Text] [PDF] [Request Permissions]  

Andrew J. Sharp, Andy Itsara, Ze Cheng, Can Alkan, Stuart Schwartz, and Evan E. Eichler
Optimal design of oligonucleotide microarrays for measurement of DNA copy-number
Human Molecular Genetics Advance Access published on August 28, 2007
Hum. Mol. Genet. 2007 16: 2770-2779; doi:10.1093/hmg/ddm234 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM Back

Xuting Wang, Daniel J. Tomso, Brain N. Chorley, Hye-Youn Cho, Vivian G. Cheung, Steven R. Kleeberger, and Douglas A. Bell
Identification of polymorphic antioxidant response elements in the human genome
Human Molecular Genetics Advance Access published on September 26, 2007
Hum. Mol. Genet. 2007 16: 2780; doi:10.1093/hmg/ddm228 [Extract] [Full Text] [PDF] [Request Permissions]  

Christian P. Kratz, Doris Steinemann, Charlotte M. Niemeyer, Brigitte Schlegelberger, Ewa Koscielniak, Udo Kontny, and Martin Zenker
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome
Human Molecular Genetics Advance Access published on October 3, 2007
Hum. Mol. Genet. 2007 16: 2781; doi:10.1093/hmg/ddm230 [Extract] [Full Text] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.