Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 7

Results: 23

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 761, doi. 10.1038/ejhg.2010.11

By:

Désir, Julie;
Sznajer, Yves;
Depasse, Fanny;
Roulez, Françoise;
Schrooyen, Marc;
Meire, Françoise;
Abramowicz, Marc

Publication type:

Article

Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 794, doi. 10.1038/ejhg.2010.15

By:

Cavanillas, María L.;
Alcina, Antonio;
Núñez, Concepción;
de las Heras, Virginia;
Fernández-Arquero, Miguel;
Bartolomé, Manuel;
de la Concha, Emilio G.;
Fernández, Oscar;
Arroyo, Rafael;
Matesanz, Fuencisla;
Urcelay, Elena

Publication type:

Article

Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 800, doi. 10.1038/ejhg.2009.231

By:

Cruciani, Fulvio;
Trombetta, Beniamino;
Sellitto, Daniele;
Massaia, Andrea;
Destro-Bisol, Giovanni;
Watson, Elizabeth;
Beraud Colomb, Eliane;
Dugoujon, Jean-Michel;
Moral, Pedro;
Scozzari, Rosaria

Publication type:

Article

Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 827, doi. 10.1038/ejhg.2009.240

By:

Alcina, Antonio;
Fernández, Óscar;
Gonzalez, Juan Ramón;
Catalá-Rabasa, Antonio;
Fedetz, María;
Ndagire, Dorothy;
Leyva, Laura;
Guerrero, Miguel;
Arnal, Carmen;
Delgado, Concepción;
Lucas, Miguel;
Izquierdo, Guillermo;
Matesanz, Fuencisla

Publication type:

Article

Evidence for interaction between 5-hydroxytryptamine (serotonin) receptor 2A and MHC type II molecules in the development of rheumatoid arthritis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 821, doi. 10.1038/ejhg.2010.12

By:

Seddighzadeh, Maria;
Korotkova, Marina;
Källberg, Henrik;
Bo Ding;
Daha, Nina;
Kurreeman, Fina A. S.;
Toes, Rene E. M.;
Huizinga, Tom W.;
Catrina, Anca I.;
Alfredsson, Lars;
Klareskog, Lars;
Padyukov, Leonid

Publication type:

Article

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14

By:

Aller, Elena;
Larrieu, Lise;
Jaijo, Teresa;
Baux, David;
Espinós, Carmen;
González-Candelas, Fernando;
Nájera, Carmen;
Palau, Francesc;
Claustres, Mireille;
Roux, Anne-Françoise;
Millán, José M.

Publication type:

Article

Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 751, doi. 10.1038/ejhg.2010.13

By:

.Bombard, Yvonne;
Miller, Fiona A.;
Hayeems, Robin Z.;
Avard, Denise;
Knoppers, Bartha M.

Publication type:

Article

Quality standards in Biobanking: authentication by genetic profiling of blood spots from donor's original sample.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 848, doi. 10.1038/ejhg.2010.16

By:

Cardoso, Sergio;
Valverde, Laura;
Odriozola, Adrian;
Elcoroaristizabal, Xabier;
de Pancorbo, Marian M.

Publication type:

Article

The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 776, doi. 10.1038/ejhg.2010.19

By:

De Bortoli, Marzia;
Beffagna, Giorgia;
Bauce, Barbara;
Lorenzon, Alessandra;
Smaniotto, Gessica;
Rigato, Ilaria;
Calore, Martina;
Li Mura, Ilena E. A.;
Basso, Cristina;
Thiene, Gaetano;
Lanfranchi, Gerolamo;
Danieli, Gian Antonio;
Nava, Andrea;
Rampazzo, Alessandra

Publication type:

Article

Bayes factors in complex genetics.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 746, doi. 10.1038/ejhg.2010.17

By:

Sawcer, Stephen

Publication type:

Article

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 768, doi. 10.1038/ejhg.2010.1

By:

Gervasini, Cristina;
Mottadelli, Federica;
Ciccone, Roberto;
Castronovo, Paola;
Milani, Donatella;
Scarano, Gioacchino;
Bedeschi, Maria Francesca;
Belli, Serena;
Pilotta, Alba;
Selicorni, Angelo;
Zuffardi, Orsetta;
Larizza, Lidia

Publication type:

Article

Paternal origin of the de novo constitutional t(11;22)(q23;q11).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 783, doi. 10.1038/ejhg.2010.20

By:

Ohye, Tamae;
Inagaki, Hidehito;
Kogo, Hiroshi;
Tsutsumi, Makiko;
Kato, Takema;
Tong, Maoqing;
Macville, Merryn V. E.;
Medne, Livija;
Zackai, Elaine H.;
Emanuel, Beverly S.;
Kurahashi, Hiroki

Publication type:

Article

A new set of markers for human identification based on 32 polymorphic Alu insertions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 808, doi. 10.1038/ejhg.2010.22

By:

Mamedov, Ilgar Z.;
Shagina, Irina A.;
Kurnikova, Marya A.;
Novozhilov, Sergey N.;
Shagin, Dmitry A.;
Lebedev, Yury B.

Publication type:

Article

Linking LINGO1 to essential tremor.

Published in:

2010

By:

Eng-King Tan

Publication type:

Opinion

Replication of the LINGO1 gene association with essential tremor in a North American population.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 838, doi. 10.1038/ejhg.2010.27

By:

Clark, Lorraine N.;
Park, Naeun;
Kisselev, Sergey;
Rios, Eileen;
Lee, Joseph H.;
Louis, Elan D.

Publication type:

Article

Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 832, doi. 10.1038/ejhg.2010.26

By:

Siontis, Konstantinos C. M.;
Patsopoulos, Nikolaos A.;
Ioannidis, John P. A.

Publication type:

Article

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 852, doi. 10.1038/ejhg.2010.28

By:

Frost, Amy R.;
Böhm, Sabrina V.;
Sewduth, Raj N.;
Josifova, Dragana;
Ogilvie, Caroline Mackie;
Izatt, Louise;
Roberts, Roland G.

Publication type:

Article

Common genetic variation and performance on standardized cognitive tests.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 815, doi. 10.1038/ejhg.2010.2

By:

Cirulli, Elizabeth T.;
Kasperavičiūtė, Dalia;
Attix, Deborah K.;
Need, Anna C.;
Ge, Dongliang;
Gibson, Greg;
Goldstein, David B.

Publication type:

Article

The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 856, doi. 10.1038/ejhg.2010.29

By:

Zanna, Ines;
Rizzolo, Piera;
Sera, Francesco;
Falchetti, Mario;
Aretini, Paolo;
Giannini, Giuseppe;
Masala, Giovanna;
Gulino, Alberto;
Palli, Domenico;
Ottini, Laura

Publication type:

Article

Retrospective access to data: the ENGAGE consent experience.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 741, doi. 10.1038/ejhg.2010.30

By:

Tassé, Anne Marie;
Budin-Ljøsne, Isabelle;
Knoppers, Bartha Maria;
Harris, Jennifer R.

Publication type:

Article

Corrigendum to: Common genetic variation and performance on standardized cognitive tests.

Published in:

2010

By:

Cirulli, Elizabeth T;
Kasperavičiūtė, Dalia;
Attix, Deborah K;
Need, Anna C;
Ge, Dongliang;
Gibson, Greg;
Goldstein, David B

Publication type:

Correction Notice

The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 844, doi. 10.1038/ejhg.2010.9

By:

Pontillo, Alessandra;
Paoluzzi, Elisa;
Crovella, Sergio

Publication type:

Article

Corrigendum to: Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages.

Published in:

2010

By:

Cruciani, Fulvio;
Trombetta, Beniamino;
Sellitto, Daniele;
Massaia, Andrea;
Destro-Bisol, Giovanni;
Watson, Elizabeth;
Colomb, Eliane Beraud;
Dugoujon, Jean-Michel;
Moral, Pedro;
Scozzari, Rosaria

Publication type:

Correction Notice