HUMAN GENETICS

 Human Genetics, Vol. 109 Issue 1
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	original investigations
LA eng
AU Ieda M.Orioli, Eduardo E.Castilla, Jeffrey E.Ming, Julio Nazer,
   Marcos J.Burle de Aguiar, Juan C.Llerena, Maximilian Muenke
TE Identification of novel mutations in SHH and ZIC2 in a South
   American (ECLAMC) population with holoprosencephaly
PP 1-6
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LA eng
AU Rosa Martinez-Arias, Eva Mateu, Jaume Bertranpetit,
   Francesc Calafell
TE Profiles of accepted mutation: from neutrality in a pseudogene
   to disease-causing mutation on its homologous gene
PP 7-10
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LA eng
AU Karen Gronskov, Jorgen H.Olsen, Annie Sand, Winni Pedersen,
   Niels Carlsen, Anne Marie Bak Jylling, Troels Lyngbye,
   Karen Brondum-Nielsen, Thomas Rosenberg
TE Population-based risk estimates of Wilms tumor in sporadic
   aniridia
PP 11-18
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LA eng
AU Rosa Aledo, Johannes Zschocke, Juan Pie, Cecilia Mir,
   Sonja Fiesel, Ertan Mayatepek, Georg F.Hoffmann, Nuria Casals,
   Fausto G.Hegardt
TE Genetic basis of mitochondrial HMG-CoA synthase deficiency
PP 19-23
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LA eng
AU Isaura Ribeiro, Ana Marc~ao, Olga Amaral,
   Maria Clara Sa Miranda, Marie T.Vanier, Gilles Millat
TE Niemann-Pick type C disease: NPC1 mutations associated with
   severe and mild cellular cholesterol trafficking alterations
PP 24-32
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LA eng
AU Michael D.Brown, Sergei Zhadanov, Jon C.Allen, Seyed Hosseini,
   Nancy J.Newman, Vasily V.Atamonov, Irina E.Mikhailovskaya,
   Rem I.Sukernik, Douglas C.Wallace
TE Novel mtDNA mutations and oxidative phosphorylation dysfunction
   in Russian LHON families
PP 33-39
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LA eng
AU A.Paoloni-Giacobino, C.Rossier, M.P.Papasavvas, S.E.Antonarakis
TE Frequency of replication/transcription errors in (A)/(T) runs of
   human genes
PP 40-47
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LA eng
AU A.Bentivegna, M.Venturin, C.Gervasini, L.Corrado, L.Larizza,
   P.Riva
TE Identification of duplicated genes in 17q11.2 using FISH on
   stretched chromosomes and DNA fibers
PP 48-54
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LA eng
AU K.M.Dipple, Y.-H.Zhang, B.-L.Huang, L.L.McCabe, J.Dallongeville,
   T.Inokuchi, M.Kimura, H.J.Marx, G.O.Roederer, V.Shih,
   S.Yamaguchi, I.Yoshida, E.R.B.McCabe
TE Glycerol kinase deficiency: Evidence for complexity in a single
   gene disorder
PP 55-62
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	original investigationss
LA eng
AU D.K.Sanghera, C.S.Nestlerode, R.E.Ferrell, M.I.Kamboh
TE Chimpanzee apolipoproteinnH (_{2}-glycoproteinnI): report
   on the gene structure, a common polymorphism, and a high
   prevalence of antiphospholipid antibodies
PP 63-72
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	original investigations
LA eng
AU Manuela Sironi, Uberto Pozzoli, Rachele Cagliani,
   Giacomo P.Comi, Alessandra Bardoni, Nereo Bresolin
TE Analysis of splicing parameters in the dystrophin gene:
   relevance for physiological and pathogenetic splicing mechanisms
PP 73-84
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LA eng
AU S.Mueller, J.Wienberg
TE "Bar-coding" primate chromosomes: molecular cytogenetic
   screening for the ancestral hominoid karyotype
PP 85-94
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LA eng
AU Zhengwen Jiang, Joshua M.Akey, Jinxiu Shi, Momiao Xiong,
   Ying Wang, Yayun Shen, Xiaoyun Xu, Hua Chen, Hong Wu,
   Junhua Xiao, Daru Lu, Wei Huang, Li Jin
TE A polymorphism in the promoter region of catalase is associated
   with blood pressure levels
PP 95-98
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LA eng
AU A.S.Lia-Baldini, F.Muller, A.Taillandier, J.F.Gibrat,
   M.Mouchard, B.Robin, B.Simon-Bouy, J.L.Serre, A.S.Aylsworth,
   E.Bieth, S.Delanote, P.Freisinger, J.C.-C.Hu, H.-P.Krohn,
   M.E.Nunes, E.Mornet
TE A molecular approach to dominance in hypophosphatasia
PP 99-108
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LA eng
AU Mirjam Luijten, Sandra Redeker, Shinsei Minoshima,
   Nobuyoshi Shimizu, Andries Westerveld, Theo J.M.Hulsebos
TE Duplication and transposition of the NF1 pseudogene regions on
   chromosomesn2, 14, and 22
PP 109-116
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LA eng
AU Martin Trbusek, Hana Francova, Libor Kozak
TE Galactosemia: deletion in the 5' upstream region of the GALT
   gene reduces promoter efficiency
PP 117-120
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	nomenclature recommendationss
LA eng
AU J.T.den Dunnen, S.E.Antonarakis
TE Nomenclature for the description of human sequence variations
PP 121-124
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	book review
LA eng
AU Oliver W.J.Quarrell
TE Glutamine repeats and neurodegenerative diseases: molecular
   aspects
PP M. Perutz (Editors), Oxford University Press (2000; 312npages), ISBN 0-198506856, p62.50, hardback
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LA eng
TE Human Gene Mutations
PP 126
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LA eng
TE Human Gene Mutations
PP 127
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	announcements
LA eng
TE Standing Committee on Human Cytogenetic Nomenclature 2001-2006
PP 128
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