Works matching IS 00099163 AND DT 2012 AND VI 81 AND IP 1

Results: 17

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 99, doi. 10.1111/j.1399-0004.2011.01708.x

By:

Bartoli, M;
Nègre, P;
Wein, N;
Bourgeois, P;
Pécheux, C;
Lévy, N;
Krahn, Martin

Publication type:

Article

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 56, doi. 10.1111/j.1399-0004.2010.01615.x

By:

Lehman, AM;
du Souich, C;
Chai, D;
Eydoux, P;
Huang, JL;
Fok, AK;
Avila, L;
Swingland, J;
Delaney, AD;
McGillivray, B;
Goldowitz, D;
Argiropoulos, B;
Kobor, MS;
Boerkoel, CF

Publication type:

Article

The impact of risk information exposure on women's beliefs about direct-to-consumer genetic testing for BRCA mutations.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 29, doi. 10.1111/j.1399-0004.2011.01797.x

By:

Gray, SW;
Hornik, RC;
Schwartz, JS;
Armstrong, K

Publication type:

Article

Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 82, doi. 10.1111/j.1399-0004.2010.01598.x

By:

Zirn, B;
Arning, L;
Bartels, I;
Shoukier, M;
Hoffjan, S;
Neubauer, B;
Hahn, A

Publication type:

Article

Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 96, doi. 10.1111/j.1399-0004.2011.01704.x

By:

Cho, SY;
Park, H-D;
Lee, Y-W;
Ki, C-S;
Lee, S-Y;
Sohn, YB;
Park, SW;
Kim, SH;
Ji, S;
Kim, SJ;
Choi, EW;
Kim, CH;
Ko, A-r;
Paik, K-H;
Lee, DH;
Jin, D-K

Publication type:

Article

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 93, doi. 10.1111/j.1399-0004.2011.01700.x

By:

Dutra, EH;
Chen, I-P;
McGregor, TL;
Ranells, JD;
Reichenberger, EJ

Publication type:

Article

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 24, doi. 10.1111/j.1399-0004.2011.01793.x

By:

Huijgen, R;
Stork, ADM;
Defesche, JC;
Peter, J;
Alonso, R;
Cuevas, A;
Kastelein, JJP;
Duran, M;
Stroes, ESG

Publication type:

Article

Management of inherited thrombophilia: guide for genetics professionals.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 7, doi. 10.1111/j.1399-0004.2011.01746.x

By:

Varga, EA;
Kujovich, JL

Publication type:

Article

DTC genetic testing: pendulum swings and policy paradoxes.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 4, doi. 10.1111/j.1399-0004.2011.01799.x

By:

Caulfield, T

Publication type:

Article

Adoption and the communication of genetic risk: experiences in Huntington disease.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 64, doi. 10.1111/j.1399-0004.2010.01614.x

By:

Bombard, Y;
Semaka, A;
Hayden, MR

Publication type:

Article

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 38, doi. 10.1111/j.1399-0004.2011.01676.x

By:

Mongin, C;
Coulet, F;
Lefevre, JH;
Colas, C;
Svrcek, M;
Eyries, M;
Lahely, Y;
Fléjou, J-F;
Soubrier, F;
Parc, Y

Publication type:

Article

Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 18, doi. 10.1111/j.1399-0004.2011.01778.x

By:

van der Meer, LB;
van Duijn, E;
Wolterbeek, R;
Tibben, A

Publication type:

Article

CCMG statement on direct-to-consumer genetic testing.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 1, doi. 10.1111/j.1399-0004.2011.01789.x

By:

Nelson, TN;
Armstrong, L;
Richer, J;
Evans, J;
Lauzon, J;
McGillivray, B;
Bruyere, H;
Dougan, S

Publication type:

Article

Clinical findings in patients with GLI2 mutations - phenotypic variability.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 70, doi. 10.1111/j.1399-0004.2010.01606.x

By:

Bertolacini, CDP;
Ribeiro-Bicudo, LA;
Petrin, A;
Richieri-Costa, A;
Murray, JC

Publication type:

Article

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 47, doi. 10.1111/j.1399-0004.2011.01638.x

By:

Barbosa, M;
Lopes, A;
Mota, C;
Martins, E;
Oliveira, J;
Alves, S;
De Bonis, P;
do Céu Mota, M;
Dias, C;
Rodrigues-Santos, P;
Fortuna, AM;
Quelhas, D;
Lacerda, L;
Bisceglia, L;
Cardoso, ML

Publication type:

Article

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 76, doi. 10.1111/j.1399-0004.2010.01605.x

By:

Vulliamy, T;
Beswick, R;
Kirwan, MJ;
Hossain, U;
Walne, AJ;
Dokal, I

Publication type:

Article

First HPSE2 missense mutation in urofacial syndrome.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 88, doi. 10.1111/j.1399-0004.2011.01649.x

By:

Mahmood, S;
Beetz, C;
Tahir, MM;
Imran, M;
Mumtaz, R;
Bassmann, I;
Jahic, A;
Malik, M;
Nürnberg, G;
Hassan, SAA;
Rana, S;
Nürnberg, P;
Hübner, CA

Publication type:

Article