Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 12

Results: 18

The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900).

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1233, doi. 10.1038/sj.ejhg.5201639

By:

Gécz, Jozef;
Turner, Gillian;
Nelson, John;
Partington, Michael

Publication type:

Article

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201691

By:

Ducroq, Dominique;
Shalev, Stavit;
Habib, Aviv;
Munnich, Arnold;
Kaplan, Josseline;
Rozet, Jean-Michel

Publication type:

Article

Alcoholism: Study boosts evidence on linkage regions associated with alcoholism.

Published in:

2006

By:

Hopfer, Christian

Publication type:

Editorial

Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696

By:

Klopocki, Eva;
Neumann, Luitgard M.;
Tönnies, Holger;
Ropers, Hans-Hilger;
Mundlos, Stefan;
Ullmann, Reinhard

Publication type:

Article

An utter refutation of the ‘Fundamental Theorem of the HapMap’ by Terwilliger and Hiekkalinna.

Published in:

2006

By:

Thomas, Duncan C.;
Stram, Daniel O.

Publication type:

Letter

An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1295, doi. 10.1038/sj.ejhg.5201698

By:

Omi, Toshinori;
Kumada, Maki;
Kamesaki, Toyomi;
Okuda, Hiroshi;
Munkhtulga, Lkhagvasuren;
Yanagisawa, Yoshiko;
Utsumi, Nanami;
Gotoh, Takaya;
Hata, Akira;
Soma, Masayoshi;
Umemura, Satoshi;
Ogihara, Toshio;
Takahashi, Norio;
Tabara, Yasuharu;
Shimada, Kazuyuki;
Mano, Hiroyuki;
Kajii, Eiji;
Miki, Tetsuro;
Iwamoto, Sadahiko

Publication type:

Article

Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1263, doi. 10.1038/sj.ejhg.5201699

By:

Reid, Erin P.;
Forbes, Alastair;
Sanderson, Jeremy;
Mathew, Christopher G.;
Lewis, Cathryn;
Marteau, Theresa M.

Publication type:

Article

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1240, doi. 10.1038/sj.ejhg.5201700

By:

Heuertz, Solange;
Le Merrer, Martine;
Zabel, Bernhard;
Wright, Michael;
Legeai-Mallet, Laurence;
Cormier-Daire, Valérie;
Gibbs, Linda;
Bonaventure, Jacky

Publication type:

Article

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1313, doi. 10.1038/sj.ejhg.5201702

By:

Gutierrez-Roelens, Ilse;
Roy, Luc De;
Ovaert, Caroline;
Sluysmans, Thierry;
Devriendt, Koen;
Brunner, Han G.;
Vikkula, Miikka

Publication type:

Article

Strong linkage on 2q33.3 to familial early-onset generalized osteoarthritis and a consideration of two positional candidate genes.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1280, doi. 10.1038/sj.ejhg.5201704

By:

Meulenbelt, Ingrid;
Min, Josine L.;
van Duijn, Cornelia M.;
Kloppenburg, Margreet;
Breedveld, Ferdinand C.;
Slagboom, P. Eline

Publication type:

Article

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1306, doi. 10.1038/sj.ejhg.5201706

By:

Michielse, Caroline B.;
Bhat, Meena;
Brady, Angela;
Jafrid, Hussain;
van den Hurk, José A. J. M.;
Raashid, Yasmin;
Brunner, Han G.;
van Bokhoven, Hans;
Padberg, George W.

Publication type:

Article

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1317, doi. 10.1038/sj.ejhg.5201707

By:

Tzschach, Andreas;
Hoeltzenbein, Maria;
Hoffmann, Kirsten;
Menzel, Corinna;
Beyer, Alexander;
Ocker, Volker;
Wurster, Goetz;
Raynaud, Martine;
Ropers, Hans-Hilger;
Kalscheuer, Vera;
Heilbronner, Helmut

Publication type:

Article

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1248, doi. 10.1038/sj.ejhg.5201708

By:

Lehmann, Katarina;
Seemann, Petra;
Boergermann, Jan;
Morin, Gilles;
Reif, Silke;
Knaus, Petra;
Mundlos, Stefan

Publication type:

Article

The scale and nature of Viking settlement in Ireland from Y-chromosome admixture analysis.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1288, doi. 10.1038/sj.ejhg.5201709

By:

McEvoy, Brian;
Brady, Claire;
Moore, Laoise T.;
Bradley, Daniel G.

Publication type:

Article

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1255, doi. 10.1038/sj.ejhg.5201710

By:

Gajecka, Marzena;
Glotzbach, Caron D.;
Jarmuz, Malgorzata;
Ballif, Blake C.;
Shaffer, Lisa G.

Publication type:

Article

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Published in:

2006

By:

Heuertz, Solange;
Le Merrer, Martine;
Zabel, Bernhard;
Wright, Michael;
Legeai-Mallet, Laurence;
Cormier-Daire, Valérie;
Gibbs, Linda;
Bonaventure, Jacky

Publication type:

Correction Notice

A test of homogeneity of Hardy–Weinberg disequilibrium across strata.

Published in:

2006

By:

Yin, Xiao-Lin;
Ma, Wen-Qing;
Tang, Man-Lai;
Guo, Jianhua

Publication type:

Correction Notice

The emergence of an ethical duty to disclose genetic research results: international perspectives.

Published in:

2006

By:

Knoppers, Bartha Maria;
Joly, Yann;
Simard, Jacques;
Durocher, Francine

Publication type:

Correction Notice