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Previous Next 		Contents: Volume 15, Number 7, 1 April 2006   [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

Dominik Müller, P. Jaya Kausalya, Iwan C. Meij, and Walter Hunziker
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail
Human Molecular Genetics Advance Access published on February 24, 2006
Hum. Mol. Genet. 2006 15: 1049-1058; doi:10.1093/hmg/ddl020 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daniel R. Scoles, William H. Yong, Yun Qin, Kolja Wawrowsky, and Stefan Matthias Pulst
Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c)
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1059-1070; doi:10.1093/hmg/ddl021 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Nahid G. Robertson, Cor W.R.J. Cremers, Patrick L.M. Huygen, Tetsuo Ikezono, Bryan Krastins, Hannie Kremer, Sharon F. Kuo, M. Charles Liberman, Saumil N. Merchant, Constance E. Miller, Joseph B. Nadol, Jr, David A. Sarracino, Wim I.M. Verhagen, and Cynthia C. Morton
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction
Human Molecular Genetics Advance Access published on February 15, 2006
Hum. Mol. Genet. 2006 15: 1071-1085; doi:10.1093/hmg/ddl022 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Frances Hannan, Ivan Ho, James Jiayuan Tong, Yinghua Zhu, Peter Nurnberg, and Yi Zhong
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras
Human Molecular Genetics Advance Access published on March 2, 2006
Hum. Mol. Genet. 2006 15: 1087-1098; doi:10.1093/hmg/ddl023 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kim Holloway, Victoria E. Lawson, and Alec J. Jeffreys
Allelic recombination and de novo deletions in sperm in the human ß-globin gene region
Human Molecular Genetics Advance Access published on February 24, 2006
Hum. Mol. Genet. 2006 15: 1099-1111; doi:10.1093/hmg/ddl025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Erwan Delbarre, Marc Tramier, Maïté Coppey-Moisan, Claire Gaillard, Jean-Claude Courvalin, and Brigitte Buendia
The truncated prelamin A in Hutchinson–Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers
Human Molecular Genetics Advance Access published on February 15, 2006
Hum. Mol. Genet. 2006 15: 1113-1122; doi:10.1093/hmg/ddl026 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

M.L. De Bonis, A. Cerase, M.R. Matarazzo, M. Ferraro, M. Strazzullo, R.S. Hansen, P. Chiurazzi, G. Neri, and M. D'Esposito
Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications
Human Molecular Genetics Advance Access published on February 24, 2006
Hum. Mol. Genet. 2006 15: 1123-1132; doi:10.1093/hmg/ddl027 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Felix B. Müller, Marcel Huber, Tamar Kinaciyan, Ingrid Hausser, Christina Schaffrath, Thomas Krieg, Daniel Hohl, Bernhard P. Korge, and Meral J. Arin
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
Human Molecular Genetics Advance Access published on February 27, 2006
Hum. Mol. Genet. 2006 15: 1133-1141; doi:10.1093/hmg/ddl028 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ivan P. Gorlov, Marek Kimmel, and Christopher I. Amos
Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome
Human Molecular Genetics Advance Access published on February 24, 2006
Hum. Mol. Genet. 2006 15: 1143-1150; doi:10.1093/hmg/ddl029 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ikuko Mizuta, Wataru Satake, Yuko Nakabayashi, Chiyomi Ito, Satoko Suzuki, Yoshio Momose, Yoshitaka Nagai, Akira Oka, Hidetoshi Inoko, Jiro Fukae, Yuko Saito, Motoji Sawabe, Shigeo Murayama, Mitsutoshi Yamamoto, Nobutaka Hattori, Miho Murata, and Tatsushi Toda
Multiple candidate gene analysis identifies {alpha}-synuclein as a susceptibility gene for sporadic Parkinson's disease
Human Molecular Genetics Advance Access published on February 24, 2006
Hum. Mol. Genet. 2006 15: 1151-1158; doi:10.1093/hmg/ddl030 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Tera L. Newman, Mark J. Rieder, V. Anne Morrison, Andrew J. Sharp, Joshua D. Smith, L. James Sprague, Rajinder Kaul, Christopher S. Carlson, Maynard V. Olson, Deborah A. Nickerson, and Evan E. Eichler
High-throughput genotyping of intermediate-size structural variation
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1159-1167; doi:10.1093/hmg/ddl031 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Dong Wang, Juan M. Pascual, Hong Yang, Kristin Engelstad, Xia Mao, Jianfeng Cheng, Jong Yoo, Jeffrey L. Noebels, and Darryl C. De Vivo
A mouse model for Glut-1 haploinsufficiency
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1169-1179; doi:10.1093/hmg/ddl032 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Jin Hee Kim, Heon Kim, Kye Young Lee, Kang-Hyeon Choe, Jeong-Seon Ryu, Ho Il Yoon, Sook Whan Sung, Keun-Young Yoo, and Yun-Chul Hong
Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1181-1186; doi:10.1093/hmg/ddl033 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ting-Ting Huang, Mohammed Naeemuddin, Sailaja Elchuri, Mutsuo Yamaguchi, Heather M. Kozy, Elaine J. Carlson, and Charles J. Epstein
Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1187-1194; doi:10.1093/hmg/ddl034 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E. Scheffer, Annick Massacrier, Maria-Paola Valenti, Nathalie Roeckel-Trevisiol, Sarah Jamali, Christophe Beclin, Caroline Seegmuller, Marie-Noëlle Metz-Lutz, Arnaud Lemainque, Marc Delepine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, Danièle Depétris, Marie-Geneviève Mattéi, Elisabeth Flori, Andrée Robaglia-Schlupp, Nicolas Lévy, Bernd A. Neubauer, Rivka Ravid, Christian Marescaux, Samuel F. Berkovic, Edouard Hirsch, Mark Lathrop, Pierre Cau, and Pierre Szepetowski
SRPX2 mutations in disorders of language cortex and cognition
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1195-1207; doi:10.1093/hmg/ddl035 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Brinda Ravikumar, Zdenek Berger, Coralie Vacher, Cahir J. O'Kane, and David C. Rubinsztein
Rapamycin pre-treatment protects against apoptosis
Human Molecular Genetics Advance Access published on February 23, 2006
Hum. Mol. Genet. 2006 15: 1209-1216; doi:10.1093/hmg/ddl036 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anna Renglin Lindh, Saeed Rafii, Niklas Schultz, Angela Cox, and Thomas Helleday
Mitotic defects in XRCC3 variants T241M and D213N and their relation to cancer susceptibility
Human Molecular Genetics Advance Access published on February 27, 2006
Hum. Mol. Genet. 2006 15: 1217-1224; doi:10.1093/hmg/ddl037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Monica Cardone, Vinicia Assunta Polito, Stefano Pepe, Linda Mann, Alessandra D'Azzo, Alberto Auricchio, Andrea Ballabio, and Maria Pia Cosma
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
Human Molecular Genetics Advance Access published on February 27, 2006
Hum. Mol. Genet. 2006 15: 1225-1236; doi:10.1093/hmg/ddl038 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yun Sun, Fuchang Zhang, Jianjun Gao, Xiaocai Gao, Tingwei Guo, Kejin Zhang, Yongyong Shi, Zijian Zheng, Wei Tang, Yonglan Zheng, Sheng Li, Xingwang Li, Guoyin Feng, Xiaoming Shen, and Lin He
Positive association between POU1F1 and mental retardation in young females in the Chinese Han population
Human Molecular Genetics Advance Access published on February 27, 2006
Hum. Mol. Genet. 2006 15: 1237-1243; doi:10.1093/hmg/ddl039 [Abstract] [FREE 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.