Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 9

Results: 19

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 981, doi. 10.1038/ejhg.2011.61

By:

Fiore, Mathieu;
Pillois, Xavier;
Nurden, Paquita;
Nurden, Alan T.;
Austerlitz, Frédéric

Publication type:

Article

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.

Published in:

2011

By:

Arrigoni, Francesca I.;
Matarin, Mar;
Thompson, Pamela J.;
Michaelides, Michel;
McClements, Michelle E.;
Redmond, Elizabeth;
Clarke, Lindsey;
Ellins, Elizabeth;
Mohamed, Saifullah;
Pavord, Ian;
Klein, Nigel;
Hunt, David M;
Moore, Anthony T.;
Halcox, Julian;
Sisodiya, Sanjay M.

Publication type:

Correction Notice

Clinical utility gene card for: CHARGE syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.45

By:

Blake, Kim;
van Ravenswaaij-Arts, Conny MA;
Hoefsloot, Lies;
Verloes, Alain

Publication type:

Article

Clinical presentation and mutations in Danish patients with Wilson disease.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 935, doi. 10.1038/ejhg.2011.80

By:

Møller, Lisbeth Birk;
Horn, Nina;
Jeppesen, Tina Dysgaard;
Vissing, John;
Wibrand, Flemming;
Jennum, Poul;
Ott, Peter

Publication type:

Article

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.55

By:

Jacquemont, Sebastien;
Birnbaum, Stefanie;
Redler, Silke;
Steinbach, Peter;
Biancalana, Valérie

Publication type:

Article

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 947, doi. 10.1038/ejhg.2011.58

By:

Mitter, Diana;
Ullmann, Reinhard;
Muradyan, Artur;
Klein-Hitpaß, Ludger;
Kanber, Deniz;
Õunap, Katrin;
Kaulisch, Marc;
Lohmann, Dietmar

Publication type:

Article

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 965, doi. 10.1038/ejhg.2011.63

By:

de Beeck, Ken Op;
Van Camp, Guy;
Thys, Sofie;
Cools, Nathalie;
Callebaut, Isabelle;
Vrijens, Karen;
Van Nassauw, Luc;
Van Tendeloo, Viggo F. I.;
Timmermans, Jean Pierre;
Van Laer, Lut

Publication type:

Article

An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4.

Published in:

2011

By:

Shi Yan;
Chuan-Chao Wang;
Hui Li;
Shi-Lin Li;
Li Jin

Publication type:

Correction Notice

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1009, doi. 10.1038/ejhg.2011.60

By:

van Veghel-Plandsoen, Monique M.;
Wouters, Cokkie H.;
Kromosoeto, Joan N. R.;
den Ridder-Klünnen, Mariska C.;
Halley, Dicky J. J.;
van den Ouweland, Ans M. W.

Publication type:

Article

Clinical utility gene card for: 3M syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.32

By:

Holder-Espinasse, Muriel;
Irving, Melita;
Cormier-Daire, Valérie

Publication type:

Article

Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 995, doi. 10.1038/ejhg.2011.65

By:

Veeramah, Krishna R.;
Tönjes, Anke;
Kovacs, Peter;
Gross, Arnd;
Wegmann, Daniel;
Geary, Patrick;
Gasperikova, Daniela;
Klimes, Iwar;
Scholz, Markus;
Novembre, John;
Stumvoll, Michael

Publication type:

Article

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.16

By:

Bower, Matthew;
Eccles, Michael;
Heidet, Laurence;
Schimmenti, Lisa A

Publication type:

Article

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71

By:

Wentzel, Christian;
Rajcan-Separovic, Evica;
Ruivenkamp, Claudia A. L.;
Chantot-Bastaraud, Sandra;
Metay, Corinne;
Andrieux, Joris;
Annerén, Göran;
Gijsbers, Antoinet C. J.;
Druart, Luc;
Hyon, Capucine;
Portnoi, Marie-France;
Stattin, Eva-Lena;
Vincent-Delorme, Catherine;
Kant, Sarina G.;
Steinraths, Michelle;
Marlin, Sandrine;
Giurgea, Irina;
Thuresson, Ann-Charlotte

Publication type:

Article

Worldwide spatial genetic structure of angiotensin-converting enzyme gene: a new evolutionary ecological evidence for the thrifty genotype hypothesis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1002, doi. 10.1038/ejhg.2011.66

By:

Xiao Li;
Xiubin Sun;
Li Jin;
Fuzhong Xue

Publication type:

Article

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 988, doi. 10.1038/ejhg.2011.62

By:

Schönberg, Anna;
Theunert, Christoph;
Li, Mingkun;
Stoneking, Mark;
Nasidze, Ivan

Publication type:

Article

Clinical utility gene card for: Joubert syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.49

By:

Valente, Enza Maria;
Brancati, Francesco;
Boltshauser, Eugen;
Dallapiccola, Bruno

Publication type:

Article

An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1013, doi. 10.1038/ejhg.2011.64

By:

Shi Yan;
Chuan-Chao Wang;
Hui Li;
Shi-Lin Li;
Li Jin

Publication type:

Article

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 942, doi. 10.1038/ejhg.2011.74

By:

Zolotushko, Jenny;
Flusser, Hagit;
Markus, Barak;
Shelef, Ilan;
Langer, Yshaia;
Heverin, Maura;
Björkhem, Ingemar;
Sivan, Sara;
Birk, Ohad S

Publication type:

Article

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 974, doi. 10.1038/ejhg.2011.70

By:

Cacciottolo, Mafalda;
Numitone, Gelsomina;
Aurino, Stefania;
Caserta, Imma Rosaria;
Fanin, Marina;
Politano, Luisa;
Minetti, Carlo;
Ricci, Enzo;
Piluso, Giulio;
Angelini, Corrado;
Nigro, Vincenzo

Publication type:

Article