Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 1

Results: 26

Support for the involvement of complement factor I in age-related macular degeneration.

Published in:

2010

By:

Ennis, Sarah;
Gibson, Jane;
Cree, Angela J.;
Collins, Andrew;
Lotery, Andrew J.

Publication type:

Letter

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 118, doi. 10.1038/ejhg.2009.114

By:

Pomares, Esther;
Riera, Marina;
Permanyer, Jon;
Méndez, Pilar;
Castro-Navarro, Joaquín;
Andrés-Gutiérrez, Ángeles;
Marfany, Gemma;
Gonzàlez-Duarte, Roser

Publication type:

Article

Beckwith–Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 8, doi. 10.1038/ejhg.2009.106

By:

Weksberg, Rosanna;
Shuman, Cheryl;
Beckwith, J Bruce

Publication type:

Article

Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 67, doi. 10.1038/ejhg.2009.111

By:

Macgregor, Stuart;
Bellis, Claire;
Lea, Rod A.;
Cox, Hannah;
Dyer, Tom;
Blangero, John;
Visscher, Peter M.;
Griffiths, Lyn R.

Publication type:

Article

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 62, doi. 10.1038/ejhg.2009.112

By:

Hensen, Erik F.;
Jansen, Jeroen C.;
Siemers, Maaike D.;
Oosterwijk, Jan C.;
Vriends, Annette H. J. T.;
Corssmit, Eleonora P. M.;
Bayley, Jean-Pierre;
van der Mey, Andel G. L.;
Cornelisse, Cees J.;
Devilee, Peter

Publication type:

Article

Gene and pathway-based second-wave analysis of genome-wide association studies.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 111, doi. 10.1038/ejhg.2009.115

By:

Gang Peng;
Li Luo;
Hoicheong Siu;
Yun Zhu;
Pengfei Hu;
Shengjun Hong;
Jinying Zhao;
Xiaodong Zhou;
Reveille, John D.;
Li Jin;
Amos, Christopher I.;
Momiao Xiong

Publication type:

Article

Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 104, doi. 10.1038/ejhg.2009.107

By:

Tönjes, Anke;
Zeggini, Eleftheria;
Kovacs, Peter;
Böttcher, Yvonne;
Schleinitz, Dorit;
Dietrich, Kerstin;
Morris, Andrew P.;
Enigk, Beate;
Rayner, Nigel W.;
Koriath, Moritz;
Eszlinger, Markus;
Kemppinen, Anu;
Prokopenko, Inga;
Hoffmann, Katrin;
Teupser, Daniel;
Thiery, Joachim;
Krohn, Knut;
McCarthy, Mark I.;
Stumvoll, Michael

Publication type:

Article

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 33, doi. 10.1038/ejhg.2009.108

By:

Ferrero, Giovanni Battista;
Howald, Cédric;
Micale, Lucia;
Biamino, Elisa;
Augello, Bartolomeo;
Fusco, Carmela;
Turturo, Maria Giuseppina;
Forzano, Serena;
Reymond, Alexandre;
Merla, Giuseppe

Publication type:

Article

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116

By:

Tiziano, Francesco Danilo;
Pinto, Anna Maria;
Fiori, Stefania;
Lomastro, Rosa;
Messina, Sonia;
Bruno, Claudio;
Pini, Antonella;
Pane, Marika;
D'Amico, Adele;
Ghezzo, Alessandro;
Bertini, Enrico;
Mercuri, Eugenio;
Neri, Giovanni;
Brahe, Christina

Publication type:

Article

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 73, doi. 10.1038/ejhg.2009.117

By:

Boissonnas, Céline Chalas;
Abdalaoui, Hafida El;
Haelewyn, Virginie;
Fauque, Patricia;
Dupont, Jean Michel;
Gut, Ivo;
Vaiman, Daniel;
Jouannet, Pierre;
Tost, Jörg;
Jammes, Hélène

Publication type:

Article

A comprehensive approach to haplotype-specific analysis by penalized likelihood.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 95, doi. 10.1038/ejhg.2009.118

By:

Jung-Ying Tzeng;
Bondell, Howard D.

Publication type:

Article

On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 88, doi. 10.1038/ejhg.2009.119

By:

Kazma, Rémi;
Bonaïti-Pellié, Catherine;
Norris, Jill M.;
Génin, Emmanuelle

Publication type:

Article

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 125, doi. 10.1038/ejhg.2009.121

By:

Khan, Shahid Yar;
Riazuddin, Saima;
Shahzad, Mohsin;
Ahmed, Nazir;
Zafar, Ahmad Usman;
Rehman, Atteeq Ur;
Morell, Robert J;
Griffith, Andrew J;
Ahmed, Zubair M.;
Riazuddin, Sheikh;
Friedman, Thomas B

Publication type:

Article

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 130, doi. 10.1038/ejhg.2009.122

By:

Bellais, Samuel;
Le Goff, Carine;
Dagoneau, Nathalie;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

What you always wanted to know about Huntington's disease.

Published in:

2010

By:

Evers-Kiebooms, Gerry

Publication type:

Book Review

The genomic era and the new frontiers of medicine.

Published in:

2010

By:

Novelli, Giuseppe;
Predazzi, Irene Marta

Publication type:

Book Review

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 39, doi. 10.1038/ejhg.2009.120

By:

Poot, Martin;
Eleveld, Marc J.;
van 't Slot, Ruben;
van Amstel, Hans Kristian Ploos;
Hochstenbach, Ron

Publication type:

Article

Reply to Reijmerink et al.

Published in:

2010

By:

Pillai, Sreekumar G.

Publication type:

Letter

APOC3 deficiency: from mice to man.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 1, doi. 10.1038/ejhg.2009.126

By:

Hofker, Marten H.

Publication type:

Article

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 19, doi. 10.1038/ejhg.2009.127

By:

Mues, Gabriele;
Tardivel, Aubry;
Willen, Laure;
Kapadia, Hitesh;
Seaman, Robyn;
Frazier-Bowers, Sylvia;
Schneider, Pascal;
D'Souza, Rena N.

Publication type:

Article

The candidate gene approach in asthma: what happens with the neighbours?

Published in:

2010

By:

Reijmerink, Naomi E.;
Postma, Dirkje S.;
Koppelman, Gerard H.

Publication type:

Letter

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 81, doi. 10.1038/ejhg.2009.129

By:

Titze, Sabrina;
Peters, Hartmut;
Währisch, Sandra;
Harder, Thomas;
Guse, Katrin;
Buske, Annegret;
Tinschert, Sigrid;
Harder, Anja

Publication type:

Article

The common biological basis for common complex diseases: evidence from lipoprotein lipase gene.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 3, doi. 10.1038/ejhg.2009.134

By:

Cui Xie;
Zeng Chan Wang;
Xiao Feng Liu;
Mao Sheng Yang

Publication type:

Article

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 26, doi. 10.1038/ejhg.2009.135

By:

Ming-Wei Lin;
Ding-Dar Lee;
Tze-Tze Liu;
Yong-Feng Lin;
Shang-Yi Chen;
Chih-Cheng Huang;
Hui-Ying Weng;
Yu-Fen Liu;
Akio Tanaka;
Arita, Ken;
Joey Lai-Cheong;
Francis Palisson;
Yun-Ting Chang;
Chu-Kwan Wong;
Isao Matsuura;
John A. McGrath;
Shih-Feng Tsai

Publication type:

Article

Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 59, doi. 10.1038/ejhg.2009.136

By:

Flachsbart, Friederike;
Caliebe, Amke;
Nothnagel, Michael;
Kleindorp, Rabea;
Nikolaus, Susanna;
Schreiber, Stefan;
Nebel, Almut

Publication type:

Article

Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 47, doi. 10.1038/ejhg.2009.138

By:

Wilde, Alex;
Meiser, Bettina;
Mitchell, Philip B.;
Schofield, Peter R.

Publication type:

Article