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Contents: Volume 16, Number 17, 1 September 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

Melissa Thys, Isabelle Schrauwen, Kathleen Vanderstraeten, Katrien Janssens, Nele Dieltjens, Kris Van Den Bogaert, Erik Fransen, Wenjie Chen, Megan Ealy, Mireille Claustres, Cor R.W.J. Cremers, Ingeborg Dhooge, Frank Declau, Jos Claes, Paul Van de Heyning, Robert Vincent, Thomas Somers, Erwin Offeciers, Richard J.H. Smith, and Guy Van Camp
The coding polymorphism T263I in TGF-ß1 is associated with otosclerosis in two independent populations
Human Molecular Genetics Advance Access published on June 22, 2007
Hum. Mol. Genet. 2007 16: 2021-2030; doi:10.1093/hmg/ddm150 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Berta Luzón-Toro, Elena Rubio de la Torre, Asunción Delgado, Jordi Pérez-Tur, and Sabine Hilfiker
Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation
Human Molecular Genetics Advance Access published on June 20, 2007
Hum. Mol. Genet. 2007 16: 2031-2039; doi:10.1093/hmg/ddm151 [Abstract] [Full Text] [PDF] [Request Permissions]  

Vanessa Besson, Véronique Brault, Arnaud Duchon, Dieudonné Togbe, Jean-Charles Bizot, Valérie F.J. Quesniaux, Bernard Ryffel, and Yann Hérault
Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses
Human Molecular Genetics Advance Access published on June 25, 2007
Hum. Mol. Genet. 2007 16: 2040-2052; doi:10.1093/hmg/ddm152 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Xiaoxia Wang and Jianzhi Zhang
Rapid evolution of primate ESX1, an X-linked placenta- and testis-expressed homeobox gene
Human Molecular Genetics Advance Access published on June 22, 2007
Hum. Mol. Genet. 2007 16: 2053-2060; doi:10.1093/hmg/ddm153 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ayako Hasegawa and Alexander M. van der Bliek
Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells
Human Molecular Genetics Advance Access published on July 2, 2007
Hum. Mol. Genet. 2007 16: 2061-2071; doi:10.1093/hmg/ddm154 [Abstract] [Full Text] [PDF] [Request Permissions]  

Katarzyna A. Piróg-Garcia, Roger S. Meadows, Lynette Knowles, Dick Heinegård, David J. Thornton, Karl E. Kadler, Raymond P. Boot-Handford, and Michael D. Briggs
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
Human Molecular Genetics Advance Access published on June 22, 2007
Hum. Mol. Genet. 2007 16: 2072-2088; doi:10.1093/hmg/ddm155 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Patrick Hill, Baolin Wang, and Ulrich Rüther
The molecular basis of Pallister–Hall associated polydactyly
Human Molecular Genetics Advance Access published on June 22, 2007
Hum. Mol. Genet. 2007 16: 2089-2096; doi:10.1093/hmg/ddm156 [Abstract] [Full Text] [PDF] [Request Permissions]  

David Cheishvili, Channa Maayan, Yoav Smith, Gil Ast, and Aharon Razin
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination
Human Molecular Genetics Advance Access published on June 25, 2007
Hum. Mol. Genet. 2007 16: 2097-2104; doi:10.1093/hmg/ddm157 [Abstract] [Full Text] [PDF] [Request Permissions]  

Glen B. Banks, Paul Gregorevic, James M. Allen, Eric E. Finn, and Jeffrey S. Chamberlain
Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain
Human Molecular Genetics Advance Access published on June 22, 2007
Hum. Mol. Genet. 2007 16: 2105-2113; doi:10.1093/hmg/ddm158 [Abstract] [Full Text] [PDF] [Request Permissions]  

Sultan Ahmad, Leif Dahllund, Anders B. Eriksson, Dennis Hellgren, Urban Karlsson, Per-Eric Lund, Inge A. Meijer, Luc Meury, Tracy Mills, Adrian Moody, Anne Morinville, John Morten, Dajan O'Donnell, Carina Raynoschek, Hugh Salter, Guy A. Rouleau, and Johannes J. Krupp
A stop codon mutation in SCN9A causes lack of pain sensation
Human Molecular Genetics Advance Access published on June 27, 2007
Hum. Mol. Genet. 2007 16: 2114-2121; doi:10.1093/hmg/ddm160 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Robert Goold, Michael Hubank, Abigail Hunt, Janice Holton, Rajesh P. Menon, Tamas Revesz, Massimo Pandolfo, and Antoni Matilla-Dueñas
Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1
Human Molecular Genetics Advance Access published on June 28, 2007
Hum. Mol. Genet. 2007 16: 2122-2134; doi:10.1093/hmg/ddm162 [Abstract] [Full Text] [PDF] [Request Permissions]  

Cheryl L. Thompson, Barbara E.K. Klein, Ronald Klein, Zhiying Xu, Jennifer Capriotti, Tripti Joshi, Dmitry Leontiev, Kristine E. Lee, Robert C. Elston, and Sudha K. Iyengar
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
Human Molecular Genetics Advance Access published on June 25, 2007
Hum. Mol. Genet. 2007 16: 2135-2148; doi:10.1093/hmg/ddm164 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

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.