Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 6

Results: 22

Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 560, doi. 10.1111/cge.12014

By:

Xu, X;
Zhang, L;
Tong, P;
Xun, G;
Su, W;
Xiong, Z;
Zhu, T;
Zheng, Y;
Luo, S;
Pan, Y;
Xia, K;
Hu, Z

Publication type:

Article

Clinical and genetic analysis of patients with X-linked hyper- IgM syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 585, doi. 10.1111/j.1399-0004.2012.01953.x

By:

Vargas‐Hernández, A;
Berrón‐Ruiz, L;
Staines‐Boone, T;
Zarate‐Hernández, MdC;
Córdova‐Calderón, WO;
Espinosa‐Rosales, FJ;
Santos‐Argumedo, L

Publication type:

Article

Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 553, doi. 10.1111/cge.12022

By:

Ashkinadze, E;
Rosen, T;
Brooks, SS;
Katsanis, N;
Davis, EE

Publication type:

Article

Response to Zizzo et al. Response to Zizzo et al.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 582, doi. 10.1111/cge.12135

By:

Simsek, I;
Yilmaz, S;
Cinar, M;
Erdem, H;
Pay, S

Publication type:

Article

Opsismodysplasia: implications of mutations in the developmental gene INPPL1.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 527, doi. 10.1111/cge.12136

By:

Chai, ECC;
Singaraja, RR

Publication type:

Article

Reduced cancer incidence in Huntington's disease: record linkage study clue to an evolutionary trade-off?

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 588, doi. 10.1111/cge.12010

By:

Turner, MR;
Goldacre, R;
Goldacre, MJ

Publication type:

Article

Absence of PMS2 mutations in colon- CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 591, doi. 10.1111/cge.12011

By:

Clendenning, M;
Macrae, FA;
Walsh, MD;
Walters, RJ;
Thibodeau, SN;
Gunawardena, SR;
Potter, JD;
Haile, RW;
Gallinger, S;
Hopper, JL;
Jenkins, MA;
Rosty, C;
Young, JP;
Buchanan, DD

Publication type:

Article

Novel SLC9A6 mutations in two families with Christianson syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 596, doi. 10.1111/j.1399-0004.2012.01948.x

By:

Riess, A;
Rossier, E;
Krüger, R;
Dufke, A;
Beck‐Woedl, S;
Horber, V;
Alber, M;
Gläser, D;
Riess, O;
Tzschach, A

Publication type:

Article

Identification of the CFTR p. Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 598, doi. 10.1111/cge.12012

By:

Dharajiya, N;
Chisholm, KM;
Dietz, L;
Sue Richards, C;
Kharrazi, M;
Schrijver, I

Publication type:

Article

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 565, doi. 10.1111/cge.12015

By:

Sevilla, T;
Martínez‐Rubio, D;
Márquez, C;
Paradas, C;
Colomer, J;
Jaijo, T;
Millán, JM;
Palau, F;
Espinós, C

Publication type:

Article

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 545, doi. 10.1111/cge.12008

By:

Zhang, C;
Zhu, Y;
Huang, F;
Jiang, G;
Chang, J;
Li, R

Publication type:

Article

The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 518, doi. 10.1111/cge.12142

By:

Cruz‐Mariño, T;
Velázquez‐Pérez, L;
González‐Zaldivar, Y;
Aguilera‐Rodríguez, R;
Velázquez‐Santos, M;
Vázquez‐Mojena, Y;
Estupiñán‐Rodríguez, A;
Laffita‐Mesa, JM;
Reynaldo‐Armiñán, R;
Almaguer‐Mederos, LE;
Paneque, M

Publication type:

Article

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 594, doi. 10.1111/cge.12007

By:

Evans, DG;
Bowers, N;
Huson, SM;
Wallace, A

Publication type:

Article

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 576, doi. 10.1111/j.1399-0004.2012.01940.x

By:

Zizzo, C;
Colomba, P;
Albeggiani, G;
Gallizzi, R;
Iemolo, F;
Nuzzo, D;
Vasto, S;
Caruso, C;
Duro, G

Publication type:

Article

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 571, doi. 10.1111/cge.12020

By:

Cadieux‐Dion, M;
Andermann, E;
Lachance‐Touchette, P;
Ansorge, O;
Meloche, C;
Barnabé, A;
Kuzniecky, RI;
Andermann, F;
Faught, E;
Leonberg, S;
Damiano, JA;
Berkovic, SF;
Rouleau, GA;
Cossette, P

Publication type:

Article

Human facial dysostoses.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 499, doi. 10.1111/cge.12123

By:

Wieczorek, D

Publication type:

Article

Response to Simsek et al.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 584, doi. 10.1111/cge.12134

By:

Duro, G;
Zizzo, C;
Colomba, P

Publication type:

Article

Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 526, doi. 10.1111/cge.12127

By:

Wu, DH;
Singaraja, RR

Publication type:

Article

A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 530, doi. 10.1111/cge.12017

By:

García‐Molina, E;
Lacunza, J;
Ruiz‐Espejo, F;
Sabater, M;
García‐Alberola, A;
Gimeno, JR;
Cañizares, F;
García, A;
Martínez, P;
Valdés, M;
Tovar, I

Publication type:

Article

An emerging role for Wnt and GSK3 signaling pathways in schizophrenia.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 511, doi. 10.1111/cge.12111

By:

Singh, KK

Publication type:

Article

TREM2: a new risk factor for Alzheimer's disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 525, doi. 10.1111/cge.12108

By:

Singaraja, RR

Publication type:

Article

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 539, doi. 10.1111/cge.12005

By:

Goodwin, AF;
Oberoi, S;
Landan, M;
Charles, C;
Groth, J;
Martinez, A;
Fairley, C;
Weiss, LA;
Tidyman, WE;
Klein, OD;
Rauen, KA

Publication type:

Article