HUMAN GENETICS

 Human Genetics: Volume 118, Number 6, February 2006
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	Review Article
LA eng
TE Evaluating HapMap SNP data transferability in a large-scale
   genotyping project involving 175 cancer-associated genes
AU Gloria Ribas, Anna Gonzalez-Neira, Antonio Salas, Roger L.Milne,
   Ana Vega, Begoa Carracedo, Emilio Gonzalez, Eva Barroso,
   Lara P.Fernandez, Patricio Yankilevich, Mercedes Robledo,
   ngel Carracedo, Javier Benitez
PP 669-679
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	Original Investigations
LA eng
TE Short/branched-chain acyl-CoA dehydrogenase deficiency due to an
   IVS3+3A>G mutation that causes exon skipping
AU Pia Pinholt Madsen, Maria Kibk, Xavier Roca, Ravi Sachidanandam,
   Adrian R.Krainer, Ernst Christensen, Robert D.Steiner,
   K.Michael Gibson, Thomas J.Corydon, Inga Knudsen,
   Ronald J.A.Wanders, Jos P.N.Ruiter, Niels Gregersen,
   Brage Storstein Andresen
PP 680-690
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LA eng
TE Extreme skewing of X chromosome inactivation in mothers of
   homosexual men
AU Sven Bocklandt, Steve Horvath, Eric Vilain, Dean H.Hamer
PP 691-694
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LA eng
TE Phylogenetic relationship of the populations within and around
   Japan using 105 short tandem repeat polymorphic loci
AU Shi-Lin Li, Toshimichi Yamamoto, Takashi Yoshimoto,
   Rieko Uchihi, Masaki Mizutani, Yukihide Kurimoto,
   Katsushi Tokunaga, Feng Jin, Yoshinao Katsumata, Naruya Saitou
PP 695-707
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LA eng
TE SNP array-based homozygosity mapping reveals MCPH1 deletion in
   family with autosomal recessive mental retardation and mild
   microcephaly
AU Masoud Garshasbi, Mohammad Mahdi Motazacker, Kimia Kahrizi,
   Farkhondeh Behjati, Seyedeh Sedigheh Abedini,
   Sahar Esmaeeli Nieh, Saghar Ghasemi Firouzabadi,
   Christian Becker, Franz Rueschendorf, Peter Nuernberg,
   Andreas Tzschach, Reza Vazifehmand, Fikret Erdogan,
   Reinhard Ullmann, Steffen Lenzner, Andreas W.Kuss,
   H.Hilger Ropers, Hossein Najmabadi
PP 708-715
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	Original Investigations
LA eng
TE Two-locus genome-wide linkage scan for prostate cancer
   susceptibility genes with an interaction effect
AU Bao-Li Chang, Ethan M.Lange, Latchezar Dimitrov,
   Christopher J.Valis, Elizabeth M.Gillanders, Leslie A.Lange,
   Kathleen E.Wiley, Sarah D.Isaacs, Fredrik Wiklund,
   Agnes Baffoe-Bonnie, Carl D Langefeld, S.Lilly Zheng,
   Mika P.Matikainen, Tarja Ikonen, Henna Fredriksson,
   Teuvo Tammela, Patrick C.Walsh, Joan E.Bailey-Wilson,
   Johanna Schleutker, Henrik Gronberg, Kathleen A.Cooney,
   William B.Isaacs, Edward Suh, Jeffrey M.Trent, Jianfeng Xu
PP 716-724
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	Original Investigations
LA eng
TE Analysis of families with common variable immunodeficiency
   (CVID) and IgA deficiency suggests linkage of CVID to chromosome
   16q
AU Alejandro A.Schffer, Jessica Pfannstiel, A.David B.Webster,
   Alessandro Plebani, Lennart Hammarstrm, Bodo Grimbacher
PP 725-729
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LA eng
TE Variants in Deleted in AZoospermia-Like (DAZL) are correlated
   with reproductive parameters in men and women
AU Joyce Y.Tung, Mitchell P.Rosen, Lawrence M.Nelson, Paul J.Turek,
   John S.Witte, Daniel W.Cramer, Marcelle I.Cedars,
   Renee A.Reijo Pera
PP 730-740
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LA eng
TE Human F7 sequence is split into three deep clades that are
   related to FVII plasma levels
AU Maria Sabater-Lleal, Jose Manuel Soria, Jaume Bertranpetit,
   Laura Almasy, John Blangero, Jordi Fontcuberta, Francesc Calafell
PP 741-751
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LA eng
TE Variants of the SFTPA1 and SFTPA2 genes and susceptibility to
   tuberculosis in Ethiopia
AU S.Malik, C.M.T.Greenwood, T.Eguale, A.Kifle, J.Beyene, A.Habte,
   A.Tadesse, H.Gebrexabher, S.Britton, E.Schurr
PP 752-759
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LA eng
TE The euchromatic 9p+ polymorphism is a locus-specific
   amplification caused by repeated copies of a small DNA segment
   mapping within 9p12
AU Rosetta Lecce, Marina Murdolo, Gianfranco Gelli,
   Katharina Steindl, Livia Coppola, Anna Romano, Elisa Cupelli,
   Giovanni Neri, Marcella Zollino
PP 760-766
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	Short Reports
LA eng
TE Activation of cryptic splice sites is a frequent splicing defect
   mechanism caused by mutations in exon and intron sequences of
   the OPA1 gene
AU Simone Schimpf, Simone Schaich, Bernd Wissinger
PP 767-771
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	Historical & Personal Perspectives
LA eng
TE First steps in antenatal diagnosis, 1956
AU Povl Riis
PP 772-773
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	Human Gene Mutations
LA eng
TE Novel human pathological mutations 
AU Paul D.Lewis
PP 774-785
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	Book Review
LA eng
TE Kieran C.Murphy, Peter J.Scambler (eds): Velo-cardio-facial
   syndrome: a model for understanding microdeletion disorders
   (2005): Cambridge University Press, 256 pages, hardcover,
   ISBN-13 978-0-521-82185-1, GBP 65.00
AU Ian D.Young
PP 786
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