HUMAN GENETICS

 Human Genetics: Volume 118, Number 1, November 2005
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	Review Article
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TE The Indian Genome Variation database (IGVdb): a project overview
AU The Indian Genome Variation Consortium
PP 1-11
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	Original Investigations
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TE Meprin alpha metalloprotease gene polymorphisms associated with
   diabetic nephropathy in the Pima Indians
AU Alexander R.Red Eagle, Robert L.Hanson, Weiping Jiang,
   Xiaoli Han, Gail L.Matters, Giuseppina Imperatore,
   William C.Knowler, Judith S.Bond
PP 12-22
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LA eng
TE Alport syndrome caused by inversion of a 21 Mb fragment of the
   long arm of the X-chromosome comprising exon 9 through 51 of the
   COL4A5 gene
AU Jens Michael Hertz, Ulf Persson, Inger Juncker, Marten Segelmark
PP 23-28
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TE Targeted disruption of mouse Coch provides functional evidence
   that DFNA9 hearing loss is not a COCH haploinsufficiency disorder
AU Tomoko Makishima, Clara I.Rodriguez, Nahid G.Robertson,
   Cynthia C.Morton, Colin L.Stewart, Andrew J.Griffith
PP 29-34
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TE High-resolution array-CGH profiling of germline and
   tumor-specific copy number alterations on chromosome 22 in
   patients affected with schwannomas
AU Teresita Diaz de Stahl, Caisa M.Hansson, Cecilia de Bustos,
   Kiran K.Mantripragada, Arkadiusz Piotrowski,
   Magdalena Benetkiewicz, Caroline Jarbo, Leif Wiklund,
   Tiit Mathiesen, Gunnar Nyberg, V.Peter Collins, D.Gareth Evans,
   Koichi Ichimura, Jan P.Dumanski
PP 35-44
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LA eng
TE Maternal mosaicism for mutations in the ARX gene in a family
   with X linked mental retardation
AU K.Poirier, J.Abriol, I.Souville, C.Laroche-Raynaud, C.Beldjord,
   B.Gilbert, J.Chelly, T.Bienvenu
PP 45-48
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LA eng
TE Molecular pathogenesis of Wilson disease: haplotype analysis,
   detection of prevalent mutations and genotype-phenotype
   correlation in Indian patients
AU A.Gupta, D.Aikath, R.Neogi, S.Datta, K.Basu, B.Maity, R.Trivedi,
   J.Ray, S.K.Das, P.K.Gangopadhyay, K.Ray
PP 49-57
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TE CTLA4 is differentially associated with autoimmune diseases in
   the Dutch population
AU Alexandra Zhernakova, Peter Eerligh, Pilar Barrera,
   Joanna Z.Weseloy, Tom W.J.Huizinga, Bart O.Roep, Cisca Wijmenga,
   Bobby P.C.Koeleman
PP 58-66
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LA eng
TE Haplotypes within genes of alpha-chemokines in 17q11 are
   associated with multiple sclerosis: a second phase study
AU Tamara Vyshkina and Bernadette Kalman
PP 67-75
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TE Loss-of-function mutation of the AF9/MLLT3 gene in a girl with
   neuromotor development delay, cerebellar ataxia, and epilepsy
AU Tiziano Pramparo, Salvatore Grosso, Jole Messa,
   Adriana Zatterale, Maria Clara Bonaglia, Luciana Chessa,
   Paolo Balestri, Mariano Rocchi, Orsetta Zuffardi, Roberto Giorda
PP 76-81
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TE Dominantly inherited cutaneous small-vessel lymphocytic
   vasculitis maps to chromosome 6q26-q27
AU Gabrielle S.Sellick, Richard J.Coleman, Emily L.Webb, Jade Chow,
   Steven Bevan, Jane L.Rosbotham, Richard S.Houlston
PP 82-86
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TE TDT-association analysis of EKN1 and dyslexia in a Colorado twin
   cohort
AU Haiying Meng, Karl Hager, Matthew Held, Grier P.Page,
   Richard K.Olson, Bruce F.Pennington, John C.DeFries,
   Shelley D.Smith, Jeffrey R.Gruen
PP 87-90
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TE Splicing mutation associated with Rett syndrome and an
   experimental approach for genetic diagnosis
AU Liron Abuhatzira, Kirill Makedonski, Yael Petel Galil, Eva Gak,
   Bruria Ben Zeev, Aharon Razin, Ruth Shemer
PP 91-98
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TE Heightened stress response in primary fibroblasts expressing
   mutant eIF2B genes from CACH/VWM leukodystrophy patients
AU Liraz Kantor, Heather P.Harding, David Ron, Raphael Schiffmann,
   Christine R.Kaneski, Scot R.Kimball, Orna Elroy-Stein
PP 99-106
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TE Insights into the mutational history and prevalence of SCA1 in
   the Indian population through anchored polymorphisms
AU Uma Mittal, Sangeeta Sharma, Rupali Chopra, Kalladka Dheeraj,
   Pramod Kr.Pal, Achal K.Srivastava, Mitali Mukerji
PP 107-114
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TE Maternal lineages and Alzheimer disease risk in the Old Order
   Amish
AU Joelle M.van der Walt, William K.Scott, Susan Slifer,
   P.C.Gaskell, Eden R.Martin, Kathleen Welsh-Bohmer,
   Marilyn Creason, Amy Crunk, Denise Fuzzell, Lynne McFarland,
   Charles C.Kroner, C.E.Jackson, Jonathan L.Haines,
   Margaret A.Pericak-Vance
PP 115-122
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LA eng
TE Meta-analysis of the association of CTLA-4 exon-1 +49A/G
   polymorphism with rheumatoid arthritis
AU Shizhong Han, Yao Li, Yumin Mao, Yi Xie
PP 123-132
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LA eng
TE A gene locus for progressive familial heart block type II
   (PFHBII) maps to chromosome 1q32.2-q32.3
AU Pedro Fernandez, Johanna Moolman-Smook, Paul Brink,
   Valerie Corfield
PP 133-137
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	Short Reports
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TE Susceptibility to typhoid fever is associated with a
   polymorphism in the cystic fibrosis transmembrane conductance
   regulator (CFTR)
AU Esther van de Vosse, Soegianto Ali, Adritte W.de Visser,
   Charles Surjadi, Suwandhi Widjaja, Albert M.Vollaard,
   Jaap T.van Dissel
PP 138-140
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	Historical & Personal Perspectives
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TE William Bateson, human genetics and medicine
AU Peter S.Harper
PP 141-151
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