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Previous Next 		Contents: Volume 18, Number 20, 15 October 2009   [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

Sunita Katari, Nahid Turan, Marina Bibikova, Oluwatoyin Erinle, Raffi Chalian, Michael Foster, John P. Gaughan, Christos Coutifaris, and Carmen Sapienza
DNA methylation and gene expression differences in children conceived in vitro or in vivo
Human Molecular Genetics Advance Access published on July 15, 2009
Hum. Mol. Genet. 2009 18: 3769-3778; doi:10.1093/hmg/ddp319 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Fatma Daoud, Nathalie Angeard, Bénédicte Demerre, Itxaso Martie, Rabah Benyaou, France Leturcq, Mireille Cossée, Nathalie Deburgrave, Yoann Saillour, Sylvie Tuffery, Andoni Urtizberea, Annick Toutain, Bernard Echenne, Martine Frischman, Michèle Mayer, Isabelle Desguerre, Brigitte Estournet, Christian Réveillère, Penisson-Besnier, Jean Marie Cuisset, Jean Claude Kaplan, Delphine Héron, François Rivier, and Jamel Chelly
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Human Molecular Genetics Advance Access published on July 14, 2009
Hum. Mol. Genet. 2009 18: 3779-3794; doi:10.1093/hmg/ddp320 [Abstract] [Full Text] [PDF] [Request Permissions]  

Ludmila Prokunina-Olsson, Cullan Welch, Ola Hansson, Neeta Adhikari, Laura J. Scott, Nicolle Usher, Maurine Tong, Andrew Sprau, Amy Swift, Lori L. Bonnycastle, Michael R. Erdos, Zhi He, Richa Saxena, Brennan Harmon, Olga Kotova, Eric P. Hoffman, David Altshuler, Leif Groop, Michael Boehnke, Francis S. Collins, and Jennifer L. Hall
Tissue-specific alternative splicing of TCF7L2
Human Molecular Genetics Advance Access published on July 14, 2009
Hum. Mol. Genet. 2009 18: 3795-3804; doi:10.1093/hmg/ddp321 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Hilda T.H. Tsang, Thomas L. Edwards, Xinnan Wang, James W. Connell, Rachel J. Davies, Hannah J. Durrington, Cahir J. O'Kane, J. Paul Luzio, and Evan Reid
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
Human Molecular Genetics Advance Access published on July 20, 2009
Hum. Mol. Genet. 2009 18: 3805-3821; doi:10.1093/hmg/ddp324 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Kakanahalli Nagaraj, Lars V. Kristiansen, Adam Skrzynski, Carlos Castiella, Luis Garcia-Alonso, and Michael Hortsch
Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR
Human Molecular Genetics Advance Access published on July 19, 2009
Hum. Mol. Genet. 2009 18: 3822-3831; doi:10.1093/hmg/ddp325 [Abstract] [Full Text] [PDF] [Request Permissions]  

Oliver Rothfuss, Heike Fischer, Takafumi Hasegawa, Martina Maisel, Petra Leitner, Franziska Miesel, Manu Sharma, Antje Bornemann, Daniela Berg, Thomas Gasser, and Nadja Patenge
Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair
Human Molecular Genetics Advance Access published on July 19, 2009
Hum. Mol. Genet. 2009 18: 3832-3850; doi:10.1093/hmg/ddp327 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Junxia Tang, Robert P. LeGros, Natalia Louneva, Lilly Yeh, Julia W. Cohen, Chang-Gyu Hahn, Derek J. Blake, Steven E. Arnold, and Konrad Talbot
Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression
Human Molecular Genetics Advance Access published on July 19, 2009
Hum. Mol. Genet. 2009 18: 3851-3863; doi:10.1093/hmg/ddp329 [Abstract] [Full Text] [PDF] [Request Permissions]  

Adam R. Davis and Isaac S. Kohane
Expression differences by continent of origin point to the immortalization process
Human Molecular Genetics Advance Access published on July 23, 2009
Hum. Mol. Genet. 2009 18: 3864-3875; doi:10.1093/hmg/ddp330 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Maria Manczak, Peizhong Mao, Kazuhiro Nakamura, Christopher Bebbington, Byung Park, and P. Hemachandra Reddy
Neutralization of granulocyte macrophage colony-stimulating factor decreases amyloid beta 1-42 and suppresses microglial activity in a transgenic mouse model of Alzheimer's disease
Human Molecular Genetics Advance Access published on July 19, 2009
Hum. Mol. Genet. 2009 18: 3876-3893; doi:10.1093/hmg/ddp331 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Yi Zhang, Di Chen, and Zhaohui Wang
Analyses of mental dysfunction-related ACSl4 in Drosophila reveal its requirement for Dpp/BMP production and visual wiring in the brain
Human Molecular Genetics Advance Access published on July 19, 2009
Hum. Mol. Genet. 2009 18: 3894-3905; doi:10.1093/hmg/ddp332 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Virginia B. Mattis, Allison D. Ebert, Marina Y. Fosso, Cheng-Wei Chang, and Christian L. Lorson
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
Human Molecular Genetics Advance Access published on July 21, 2009
Hum. Mol. Genet. 2009 18: 3906-3913; doi:10.1093/hmg/ddp333 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Go Suzuki, Kathryn M. Harper, Takeshi Hiramoto, Birgit Funke, MoonSook Lee, Gina Kang, Mahalah Buell, Mark A. Geyer, Raju Kucherlapati, Bernice Morrow, Pekka T. Männistö, Soh Agatsuma, and Noboru Hiroi
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice
Human Molecular Genetics Advance Access published on July 19, 2009
Hum. Mol. Genet. 2009 18: 3914-3925; doi:10.1093/hmg/ddp334 [Abstract] [Full Text] [PDF] [Request Permissions]  

Yi-Chun Hsiao, Zachary J. Tong, Jennifer E. Westfall, Jeffrey G. Ault, Patrick S. Page-McCaw, and Russell J. Ferland
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
Human Molecular Genetics Advance Access published on July 22, 2009
Hum. Mol. Genet. 2009 18: 3926-3941; doi:10.1093/hmg/ddp335 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ruben Smith, Karl Bacos, Valentina Fedele, Denis Soulet, Helena A. Walz, Stefanie Obermüller, Anders Lindqvist, Maria Björkqvist, Pontus Klein, Patrik Önnerfjord, Patrik Brundin, Hindrik Mulder, and Jia-Yi Li
Mutant huntingtin interacts with β-tubulin and disrupts vesicular transport and insulin secretion
Human Molecular Genetics Advance Access published on July 23, 2009
Hum. Mol. Genet. 2009 18: 3942-3954; doi:10.1093/hmg/ddp336 [Abstract] [Full Text] [PDF] [Request Permissions]  

Rosa M. Sancho, Bernard M.H. Law, and Kirsten Harvey
Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways
Human Molecular Genetics Advance Access published on July 22, 2009
Hum. Mol. Genet. 2009 18: 3955-3968; doi:10.1093/hmg/ddp337 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Mehrnaz Narooie-Nejad, Seyed Hassan Paylakhi, Seyedmehdi Shojaee, Zeinab Fazlali, Mozhgan Rezaei Kanavi, Naveed Nilforushan, Shahin Yazdani, Farbod Babrzadeh, Fatemeh Suri, Mostafa Ronaghi, Elahe Elahi, and Coro Paisán-Ruiz
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
Human Molecular Genetics Advance Access published on August 4, 2009
Hum. Mol. Genet. 2009 18: 3969-3977; doi:10.1093/hmg/ddp338 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Akihito Ohta, Tatemitsu Rai, Naofumi Yui, Motoko Chiga, Sung-Sen Yang, Shih-Hua Lin, Eisei Sohara, Sei Sasaki, and Shinichi Uchida
Targeted disruption of the Wnk4 gene decreases phosphorylation of Na-Cl cotransporter, increases Na excretion and lowers blood pressure
Human Molecular Genetics Advance Access published on July 24, 2009
Hum. Mol. Genet. 2009 18: 3978-3986; doi:10.1093/hmg/ddp344 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Minji Kim, Jaehong Suh, Donna Romano, Mimy H. Truong, Kristina Mullin, Basavaraj Hooli, David Norton, Giuseppina Tesco, Kathy Elliott, Steven L. Wagner, Robert D. Moir, K. David Becker, and Rudolph E. Tanzi
Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity
Human Molecular Genetics Advance Access published on July 15, 2009
Hum. Mol. Genet. 2009 18: 3987-3996; doi:10.1093/hmg/ddp323 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Mario Sabatelli, Fabrizio Eusebi, Ammar Al-Chalabi, Amelia Conte, Francesca Madia, Marco Luigetti, Irene Mancuso, Cristina Limatola, Flavia Trettel, Fabrizia Sobrero, Silvia Di Angelantonio, Francesca Grassi, Amalia Di Castro, Claudia Moriconi, Sergio Fucile, Serena Lattante, Giuseppe Marangi, Marina Murdolo, Daniela Orteschi, Alessandra Del Grande, Pietro Tonali, Giovanni Neri, and Marcella Zollino
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
Human Molecular Genetics Advance Access published on July 23, 2009
Hum. Mol. Genet. 2009 18: 3997-4006; doi:10.1093/hmg/ddp339 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Kaisu Keskitalo, Ulla Broms, Markku Heliövaara, Samuli Ripatti, Ida Surakka, Markus Perola, Janne Pitkäniemi, Leena Peltonen, Arpo Aromaa, and Jaakko Kaprio
Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15
Human Molecular Genetics Advance Access published on July 23, 2009
Hum. Mol. Genet. 2009 18: 4007-4012; doi:10.1093/hmg/ddp322 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp403 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp404 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp405 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp402 [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.