Works matching IS 03406717 AND DT 2006 AND VI 118 AND IP 6

Results: 15

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 669, doi. 10.1007/s00439-005-0094-9

By:

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

Publication type:

Article

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 767, doi. 10.1007/s00439-005-0096-7

By:

Schimpf, Simone;
Schaich, Simone;
Wissinger, Bernd

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 760, doi. 10.1007/s00439-005-0085-x

By:

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

Publication type:

Article

First steps in antenatal diagnosis, 1956.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 772, doi. 10.1007/s00439-005-0095-8

By:

Riis, Povl

Publication type:

Article

Human F7 sequence is split into three deep clades that are related to FVII plasma levels.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 741, doi. 10.1007/s00439-005-0045-5

By:

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

Publication type:

Article

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

Published in:

2006

By:

Young, Ian D.

Publication type:

Book Review

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 730, doi. 10.1007/s00439-005-0098-5

By:

Tung, Joyce Y.;
Rosen, Mitchell P.;
Nelson, Lawrence M.;
Turek, Paul J.;
Witte, John S.;
Cramer, Daniel W.;
Cedars, Marcelle I.;
Pera, Renee A. Reijo

Publication type:

Article

Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 752, doi. 10.1007/s00439-005-0092-y

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 725, doi. 10.1007/s00439-005-0101-1

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 716, doi. 10.1007/s00439-005-0099-4

By:

Bao-Li Chang;
Lange, Ethan M.;
Dimitrov, Latchezar;
Valis, Christopher J.;
Gillanders, Elizabeth M.;
Lange, Leslie A.;
Wiley, Kathleen E.;
Isaacs, Sarah D.;
Wiklund, Fredrik;
Baffoe-Bonnie, Agnes;
Langefeld, Carl D.;
Zheng, S. Lilly;
Matikainen, Mika P.;
Ikonen, Tarja;
Fredriksson, Henna;
Tammela, Teuvo;
Walsh, Patrick C.;
Bailey-Wilson, Joan E.;
Schleutker, Johanna;
Gronberg, Henrik

Publication type:

Article

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y

By:

Masoud Garshasbi;
Motazacker, Mohammad Mahdi;
Kahrizi, Kimia;
Behjati, Farkhondeh;
Abedini, Seyedeh Sedigheh;
Nieh, Sahar Esmaeeli;
Firouzabadi, Saghar Ghasemi;
Becker, Christian;
Rüschendorf, Franz;
Nürnberg, Peter;
Tzschach, Andreas;
Vazifehmand, Reza;
Erdogan, Fikret;
Ullmann, Reinhard;
Lenzner, Steffen;
Kuss, Andreas W.;
Ropers, H. Hilger;
Najmabadi, Hossein

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 680, doi. 10.1007/s00439-005-0070-4

By:

Madsen, Pia Pinholt;
Kibæk, Maria;
Roca, Xavier;
Sachidanandam, Ravi;
Krainer, Adrian R.;
Christensen, Ernst;
Steiner, Robert D.;
Gibson, K. Michael;
Corydon, Thomas J.;
Knudsen, Inga;
Wanders, Ronald J. A.;
Ruiter, Jos P. N.;
Gregersen, Niels;
Andresen, Brage Storstein

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 695, doi. 10.1007/s00439-005-0106-9

By:

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

Publication type:

Article

Extreme skewing of X chromosome inactivation in mothers of homosexual men.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 691, doi. 10.1007/s00439-005-0119-4

By:

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

Publication type:

Article

Novel human pathological mutations.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 774, doi. 10.1007/s00439-005-0109-6

By:

Lewis, Paul D.

Publication type:

Article