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Previous Next 		Contents: Volume 16, Number 10, 15 May 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

Peggy F. Shelbourne, Christine Keller-McGandy, Wenya Linda Bi, Song-Ro Yoon, Louis Dubeau, Nicola J. Veitch, Jean Paul Vonsattel, Nancy S. Wexler, The US-Venezuela Collaborative Research Group, Norman Arnheim, and Sarah J. Augood
Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain
Human Molecular Genetics Advance Access published on April 4, 2007
Hum. Mol. Genet. 2007 16: 1133-1142; doi:10.1093/hmg/ddm054 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Gabriel A. Bien-Willner, Pawel Stankiewicz, and James R. Lupski
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway
Human Molecular Genetics Advance Access published on April 4, 2007
Hum. Mol. Genet. 2007 16: 1143-1156; doi:10.1093/hmg/ddm061 [Abstract] [Full Text] [PDF] [Request Permissions]  

Christopher A. Alvarez-Breckenridge, Kristin A. Waite, and Charis Eng
PTEN regulates phospholipase D and phospholipase C
Human Molecular Genetics Advance Access published on April 3, 2007
Hum. Mol. Genet. 2007 16: 1157-1163; doi:10.1093/hmg/ddm063 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Edward C. Stack, Steven J. Del Signore, Ruth Luthi-Carter, Byoung Y. Soh, Darlene R. Goldstein, Samantha Matson, Sarah Goodrich, Angela L. Markey, Kerry Cormier, Sean W. Hagerty, Karen Smith, Hoon Ryu, and Robert J. Ferrante
Modulation of nucleosome dynamics in Huntington's disease
Human Molecular Genetics Advance Access published on April 2, 2007
Hum. Mol. Genet. 2007 16: 1164-1175; doi:10.1093/hmg/ddm064 [Abstract] [Full Text] [PDF] [Request Permissions]  

Christopher A. Wassif, Kirstyn E. Brownson, Allison L. Sterner, Antonella Forlino, Patricia M. Zerfas, William K. Wilson, Matthew F. Starost, and Forbes D. Porter
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3ß-hydroxysterol {Delta}14-reductase deficiency
Human Molecular Genetics Advance Access published on April 2, 2007
Hum. Mol. Genet. 2007 16: 1176-1187; doi:10.1093/hmg/ddm065 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Xuting Wang, Daniel J. Tomso, Brian 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 April 4, 2007
Hum. Mol. Genet. 2007 16: 1188-1200; doi:10.1093/hmg/ddm066 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Matthew S.P. Ho, Kwok Yeung Tsang, Rebecca L.K. Lo, Miki Susic, Outi Mäkitie, Tori W.Y. Chan, Vivian C.W. Ng, David O. Sillence, Raymond P. Boot-Handford, Gary Gibson, Kenneth M.C. Cheung, William G. Cole, Kathryn S.E. Cheah, and Danny Chan
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
Human Molecular Genetics Advance Access published on April 2, 2007
Hum. Mol. Genet. 2007 16: 1201-1215; doi:10.1093/hmg/ddm067 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Marc Schnichels, Philipp Wörsdörfer, Radoslaw Dobrowolski, Christian Markopoulos, Markus Kretz, Gabriele Schwarz, Elke Winterhager, and Klaus Willecke
The Connexin31 F137L mutant mouse as a model for the human skin disease Erythrokeratodermia variabilis (EKV)
Human Molecular Genetics Advance Access published on April 19, 2007
Hum. Mol. Genet. 2007 16: 1216-1224; doi:10.1093/hmg/ddm068 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sabine Merx, Michael Neumaier, Hermann Wagner, Carsten J Kirschning, and Parviz Ahmad-Nejad
Characterization and investigation of single nucleotide polymorphisms and a novel TLR2 mutation in the human TLR2 gene
Human Molecular Genetics Advance Access published on April 4, 2007
Hum. Mol. Genet. 2007 16: 1225-1232; doi:10.1093/hmg/ddm070 [Abstract] [Full Text] [PDF] [Request Permissions]  

Yulia Vistoropsky, Michal Keter, Ida Malkin, Svetlana Trofimov, Eugene Kobyliansky, and Gregory Livshits
Contribution of the putative genetic factors and ANKH gene polymorphisms to variation of circulating calciotropic molecules, PTH and BGP
Human Molecular Genetics Advance Access published on April 2, 2007
Hum. Mol. Genet. 2007 16: 1233-1240; doi:10.1093/hmg/ddm071 [Abstract] [Full Text] [PDF] [Request Permissions]  

Erika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, Franco Carrara, Laura Farina, Elena Procopio, Alice Donati, Graziella Uziel, Iliana Ferrero, and Massimo Zeviani
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
Human Molecular Genetics Advance Access published on April 2, 2007
Hum. Mol. Genet. 2007 16: 1241-1252; doi:10.1093/hmg/ddm072 [Abstract] [Full Text] [PDF] [Request Permissions]  

Cinzia Allegrucci, Yue-Zhong Wu, Alexandra Thurston, Chris N. Denning, Helen Priddle, Christine L. Mummery, Dorien Ward-van Oostwaard, Peter W. Andrews, Miodrag Stojkovic, Nigel Smith, Tony Parkin, Mark Edmondson Jones, Graham Warren, Li Yu, Romulo Martin Brena, Christoph Plass, and Lorraine E. Young
Restriction landmark genome scanning identifies culture-induced DNA methylation instability in the human embryonic stem cell epigenome
Human Molecular Genetics Advance Access published on April 4, 2007
Hum. Mol. Genet. 2007 16: 1253-1268; doi:10.1093/hmg/ddm074 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM Back

Haiyan Zhou, Naohiro Yamaguchi, Le Xu, Ying Wang, Caroline Sewry, Heinz Jungbluth, Francesco Zorzato, Enrico Bertini, Francesco Muntoni, Gerhard Meissner, and Susan Treves
Characterization of recessive RYR1 mutations in core myopathies
Human Molecular Genetics Advance Access published on May 4, 2007
Hum. Mol. Genet. 2007 16: 1269; doi:10.1093/hmg/ddm092 [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.