Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 6

Results: 21

Doubling the referral rate of monogenic diabetes through a nationwide information campaign - update on glucokinase gene mutations in a Polish cohort.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 587, doi. 10.1111/j.1399-0004.2011.01803.x

By:

Borowiec, M;
Fendler, W;
Antosik, K;
Baranowska, A;
Gnys, P;
Zmyslowska, A;
Malecki, M;
Mlynarski, W

Publication type:

Article

Female factor IX deficiency due to maternally inherited X-inactivation.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 583, doi. 10.1111/j.1399-0004.2012.01842.x

By:

Esquilin, JM;
Takemoto, CM;
Green, NS

Publication type:

Article

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 534, doi. 10.1111/j.1399-0004.2011.01806.x

By:

Mili, A;
Ben Charfeddine, I;
Amara, A;
Mamaï, O;
Adala, L;
Ben Lazreg, T;
Bouguila, J;
Saad, A;
Limem, K;
Gribaa, M

Publication type:

Article

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 505, doi. 10.1111/j.1399-0004.2011.01832.x

By:

Stoppa-Vaucher, S;
Ayabe, T;
Paquette, J;
Patey, N;
Francoeur, D;
Vuissoz, J-M;
Deladoëy, J;
Samuels, ME;
Ogata, T;
Deal, CL

Publication type:

Article

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 579, doi. 10.1111/j.1399-0004.2011.01817.x

By:

Šafka Brožková, D;
Laštůvková, J;
Štěpánková, H;
Krůtová, M;
Trková, M;
Myška, P;
Seeman, P

Publication type:

Article

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 558, doi. 10.1111/j.1399-0004.2011.01805.x

By:

Larson, AM;
Hedgire, SS;
Deshpande, V;
Stemmer-Rachamimov, AO;
Harisinghani, MG;
Ferrone, CR;
Shah, U;
Thiele, EA

Publication type:

Article

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 574, doi. 10.1111/j.1399-0004.2011.01814.x

By:

Juan-Mateu, J;
Paradas, C;
Olivé, M;
Verdura, E;
Rivas, E;
González-Quereda, L;
Rodríguez, MJ;
Baiget, M;
Gallano, P

Publication type:

Article

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 594, doi. 10.1111/j.1399-0004.2012.01869.x

By:

Ahmad, J;
Le Calvez-Kelm, F;
Daud, S;
Voegele, C;
Vallée, M;
Ahmad, A;
Kakar, N;
McKay, JD;
Gaborieau, V;
Léoné, M;
Sinilnikova, O;
Sangrajrang, S;
Tavtigian, SV;
Lesueur, F

Publication type:

Article

Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 521, doi. 10.1111/cge.12003

By:

Fam, HK

Publication type:

Article

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 514, doi. 10.1111/j.1399-0004.2011.01831.x

By:

Usami, S;
Abe, S;
Nishio, S;
Sakurai, Y;
Kojima, H;
Tono, T;
Suzuki, N

Publication type:

Article

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 526, doi. 10.1111/j.1399-0004.2011.01838.x

By:

Zhang, J;
Bao, X;
Cao, G;
Jiang, S;
Zhu, X;
Lu, H;
Jia, L;
Pan, H;
Fehr, S;
Davis, M;
Leonard, H;
Ravine, D;
Wu, X

Publication type:

Article

Valuing gene testing in children with possible neurofibromatosis 1.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 591, doi. 10.1111/j.1399-0004.2011.01801.x

By:

Tsang, E;
Birch, P;
Friedman, JM

Publication type:

Article

Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 522, doi. 10.1111/cge.12002

By:

Cohen, A

Publication type:

Article

Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 552, doi. 10.1111/j.1399-0004.2012.01845.x

By:

Black, ME;
Hedgire, SS;
Camposano, S;
Paul, E;
Harisinghani, M;
Thiele, EA

Publication type:

Article

Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 564, doi. 10.1111/j.1399-0004.2012.01841.x

By:

Choong, SS;
Latiff, ZA;
Mohamed, M;
Lim, LLW;
Chen, KS;
Vengidasan, L;
Razali, H;
Abdul Rahman, EJ;
Ariffin, H

Publication type:

Article

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 540, doi. 10.1111/j.1399-0004.2011.01812.x

By:

Vincent, AK;
Noor, A;
Janson, A;
Minassian, BA;
Ayub, M;
Vincent, JB;
Morel, CF

Publication type:

Article

Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 546, doi. 10.1111/j.1399-0004.2011.01804.x

By:

Sebro, R;
Levy, H;
Schneck, K;
Dimmock, D;
Raby, BA;
Cannon, CL;
Broeckel, U;
Risch, NJ

Publication type:

Article

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 569, doi. 10.1111/j.1399-0004.2011.01819.x

By:

Takahashi, S;
Matsumoto, N;
Okayama, A;
Suzuki, N;
Araki, A;
Okajima, K;
Tanaka, H;
Miyamoto, A

Publication type:

Article

Two double heterozygotes in a South African Afrikaner family: implications for BRCA1 and BRCA2 predictive testing.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 599, doi. 10.1111/j.1399-0004.2012.01878.x

By:

Loubser, F;
de Villiers, JNP;
van der Merwe, NC

Publication type:

Article

PIK3CA, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 523, doi. 10.1111/cge.12001

By:

Baradaran-Heravi, Alireza

Publication type:

Article

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 601, doi. 10.1111/j.1399-0004.2012.01873.x

By:

Fanin, M;
Benedicenti, F;
Fritegotto, C;
Nascimbeni, AC;
Peterle, E;
Stanzial, F;
Cristofoletti, A;
Castellan, C;
Angelini, C

Publication type:

Article