Volume 118; Issue 6

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Human Genetics
Volume 118; Issue 6

Human Genetics

Volume 118; Issue 6

1

HumanF7sequence is split into three deep clades that are related to FVII plasma levels

Maria Sabater-Lleal, José Manuel Soria, Jaume Bertranpetit, Laura Almasy, John Blangero, Jordi Fontcuberta, Francesc Calafell

Journal:

Year:

2006

Language:

english

File:

PDF, 455 KB

english, 2006

2

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

Pia Pinholt Madsen, Maria Kibæk, 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

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Year:

2006

Language:

english

File:

PDF, 345 KB

english, 2006

3

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12

Rosetta Lecce, Marina Murdolo, Gianfranco Gelli, Katharina Steindl, Livia Coppola, Anna Romano, Elisa Cupelli, Giovanni Neri, Marcella Zollino

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2006

Language:

english

File:

PDF, 309 KB

english, 2006

4

Kieran C. Murphy, Peter J. Scambler (eds): Velo-cardio-facial syndrome: a model for understanding microdeletion disorders (2005)

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Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

5

Variants of theSFTPA1andSFTPA2genes and susceptibility to tuberculosis in Ethiopia

S. Malik, C.M.T. Greenwood, T. Eguale, A. Kifle, J. Beyene, A. Habte, A. Tadesse, H. Gebrexabher, S. Britton, E. Schurr

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Year:

2006

Language:

english

File:

PDF, 289 KB

english, 2006

6

Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

Gloria Ribas, Anna González-Neira, Antonio Salas, Roger L. Milne, Ana Vega, Begoña Carracedo, Emilio González, Eva Barroso, Lara P. Fernández, Patricio Yankilevich, Mercedes Robledo, Ángel Carracedo,

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2006

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english

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PDF, 646 KB

english, 2006

7

First steps in antenatal diagnosis, 1956

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2006

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english

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PDF, 112 KB

english, 2006

8

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of theOPA1gene

Simone Schimpf, Simone Schaich, Bernd Wissinger

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Year:

2006

Language:

english

File:

PDF, 352 KB

english, 2006

9

Variants inDeleted in AZoospermia-Like(DAZL) are correlated with reproductive parameters in men and women

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

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Year:

2006

Language:

english

File:

PDF, 456 KB

english, 2006

10

Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect

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 Lange

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Year:

2006

Language:

english

File:

PDF, 371 KB

english, 2006

11

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

Alejandro A. Schäffer, Jessica Pfannstiel, A. David B. Webster, Alessandro Plebani, Lennart Hammarström, Bodo Grimbacher

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Year:

2006

Language:

english

File:

PDF, 193 KB

english, 2006

12

SNP array-based homozygosity mapping revealsMCPH1deletion in family with autosomal recessive mental retardation and mild microcephaly

Masoud Garshasbi, Mohammad Mahdi Motazacker, Kimia Kahrizi, Farkhondeh Behjati, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saghar Ghasemi Firouzabadi, Christian Becker, Franz Rüschendorf, Peter Nü

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Year:

2006

Language:

english

File:

PDF, 380 KB

english, 2006

13

Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci

Shi-Lin Li, Toshimichi Yamamoto, Takashi Yoshimoto, Rieko Uchihi, Masaki Mizutani, Yukihide Kurimoto, Katsushi Tokunaga, Feng Jin, Yoshinao Katsumata, Naruya Saitou

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Year:

2006

Language:

english

File:

PDF, 525 KB

english, 2006

14

Novel human pathological mutations

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2006

Language:

english

File:

PDF, 179 KB

english, 2006

15

Extreme skewing of X chromosome inactivation in mothers of homosexual men

Sven Bocklandt, Steve Horvath, Eric Vilain, Dean H. Hamer

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Year:

2006

Language:

english

File:

PDF, 225 KB

english, 2006