Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 2

Results: 19

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 123, doi. 10.1038/ejhg.2012.121

By:

Schmuth, Matthias;
Martinz, Verena;
Janecke, Andreas R;
Fauth, Christine;
Schossig, Anna;
Zschocke, Johannes;
Gruber, Robert

Publication type:

Article

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155

By:

Lalani, Seema R;
Shaw, Chad;
Wang, Xueqing;
Patel, Ankita;
Patterson, Lance W;
Kolodziejska, Katarzyna;
Szafranski, Przemyslaw;
Ou, Zhishuo;
Tian, Qi;
Kang, Sung-Hae L;
Jinnah, Amina;
Ali, Sophia;
Malik, Aamir;
Hixson, Patricia;
Potocki, Lorraine;
Lupski, James R;
Stankiewicz, Pawel;
Bacino, Carlos A;
Dawson, Brian;
Beaudet, Arthur L

Publication type:

Article

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140

By:

Philippe, Orianne;
Rio, Marlène;
Malan, Valérie;
Van Esch, Hilde;
Baujat, Geneviève;
Bahi-Buisson, Nadia;
Valayannopoulos, Vassili;
Gesny, Roseline;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Froyen, Guy;
Amiel, Jeanne;
Boddaert, Nathalie;
Colleaux, Laurence

Publication type:

Article

Personalized medicine and access to health care: potential for inequitable access?

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 143, doi. 10.1038/ejhg.2012.149

By:

McClellan, Kelly A;
Avard, Denise;
Simard, Jacques;
Knoppers, Bartha M

Publication type:

Article

Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 217, doi. 10.1038/ejhg.2012.141

By:

Luo, Li;
Zhu, Yun;
Xiong, Momiao

Publication type:

Article

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 154, doi. 10.1038/ejhg.2012.150

By:

Borelli, Iolanda;
Barberis, Marco A;
Spina, Francesca;
Cavalchini, Guido C Casalis;
Vivanet, Caterina;
Balestrino, Luisa;
Micheletti, Monica;
Allavena, Anna;
Sala, Paola;
Carcassi, Carlo;
Pasini, Barbara

Publication type:

Article

Atrioventricular canal defect in patients with RASopathies.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 200, doi. 10.1038/ejhg.2012.145

By:

Digilio, Maria Cristina;
Romana Lepri, Francesca;
Lisa Dentici, Maria;
Henderson, Alex;
Baban, Anwar;
Cristina Roberti, Maria;
Capolino, Rossella;
Versacci, Paolo;
Surace, Cecilia;
Angioni, Adriano;
Tartaglia, Marco;
Marino, Bruno;
Dallapiccola, Bruno

Publication type:

Article

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 237, doi. 10.1038/ejhg.2012.135

By:

Belzil, Véronique V;
Daoud, Hussein;
Camu, William;
Strong, Michael J;
Dion, Patrick A;
Rouleau, Guy A

Publication type:

Article

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 233, doi. 10.1038/ejhg.2012.132

By:

Reinstein, Eyal;
DeLozier, Celia Dawn;
Simon, Ziv;
Bannykh, Serguei;
Rimoin, David L;
Curry, Cynthia J

Publication type:

Article

Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 240, doi. 10.1038/ejhg.2012.83

By:

Flachsbart, Friederike;
Möller, Michael;
Däumer, Carolin;
Gentschew, Liljana;
Kleindorp, Rabea;
Krawczak, Michael;
Caliebe, Amke;
Schreiber, Stefan;
Nebel, Almut

Publication type:

Article

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 182, doi. 10.1038/ejhg.2012.144

By:

Barber, John C K;
Hall, Victoria;
Maloney, Viv K;
Huang, Shuwen;
Roberts, Angharad M;
Brady, Angela F;
Foulds, Nicki;
Bewes, Beverley;
Volleth, Marianne;
Liehr, Thomas;
Mehnert, Karl;
Bateman, Mark;
White, Helen

Publication type:

Article

RNA-Seq and human complex diseases: recent accomplishments and future perspectives.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 134, doi. 10.1038/ejhg.2012.129

By:

Costa, Valerio;
Aprile, Marianna;
Esposito, Roberta;
Ciccodicola, Alfredo

Publication type:

Article

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 148, doi. 10.1038/ejhg.2012.147

By:

Hawkins, Alice K;
Creighton, Susan;
Hayden, Michael R

Publication type:

Article

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 190, doi. 10.1038/ejhg.2012.146

By:

Nicolaou, Paschalis;
Cianchetti, Carlo;
Minaidou, Anna;
Marrosu, Giovanni;
Zamba-Papanicolaou, Eleni;
Middleton, Lefkos;
Christodoulou, Kyproula

Publication type:

Article

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 162, doi. 10.1038/ejhg.2012.139

By:

Beck, Bodo B;
Baasner, Anne;
Buescher, Anja;
Habbig, Sandra;
Reintjes, Nadine;
Kemper, Markus J;
Sikora, Przemyslaw;
Mache, Christoph;
Pohl, Martin;
Stahl, Mirjam;
Toenshoff, Burkhard;
Pape, Lars;
Fehrenbach, Henry;
Jacob, Dorrit E;
Grohe, Bernd;
Wolf, Matthias T;
Nürnberg, Gudrun;
Yigit, Gökhan;
Salido, Eduardo C;
Hoppe, Bernd

Publication type:

Article

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 229, doi. 10.1038/ejhg.2012.79

By:

Marangi, Giuseppe;
Leuzzi, Vincenzo;
Manti, Filippo;
Lattante, Serena;
Orteschi, Daniela;
Pecile, Vanna;
Neri, Giovanni;
Zollino, Marcella

Publication type:

Article

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 225, doi. 10.1038/ejhg.2012.133

By:

Yeetong, Patra;
Ausavarat, Surasawadee;
Bhidayasiri, Roongroj;
Piravej, Krisna;
Pasutharnchat, Nath;
Desudchit, Tayard;
Chunharas, Chaipat;
Loplumlert, Jakrin;
Limotai, Chusak;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Using identity by descent estimation with dense genotype data to detect positive selection.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 205, doi. 10.1038/ejhg.2012.148

By:

Han, Lide;
Abney, Mark

Publication type:

Article

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 212, doi. 10.1038/ejhg.2012.124

By:

Laitman, Yael;
Feng, Bing-Jian;
Zamir, Itay M;
Weitzel, Jeffrey N;
Duncan, Paul;
Port, Danielle;
Thirthagiri, Eswary;
Teo, Soo-Hwang;
Evans, Gareth;
Latif, Ayse;
Newman, William G;
Gershoni-Baruch, Ruth;
Zidan, Jamal;
Shimon-Paluch, Shani;
Goldgar, David;
Friedman, Eitan

Publication type:

Article