Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 1

Results: 18

Chinese Americans' views of prenatal genetic testing in the genomic era: a qualitative study.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 22, doi. 10.1111/j.1399-0004.2012.01871.x

By:

Chen, Lei-Shih;
Zhao, Mei;
Zhou, Qiong;
Xu, Lei

Publication type:

Article

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 56, doi. 10.1111/j.1399-0004.2011.01695.x

By:

Lee, K;
Khan, S;
Islam, A;
Ansar, M;
Andrade, P B;
Kim, S;
Santos-Cortez, R L P;
Ahmad, W;
Leal, S M

Publication type:

Article

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

Published in:

2012

By:

Ronce, N;
Maystadt, I;
Hubert, C;
Vonwill, S;
Devriendt, K;
Moizard, M-P;
Raynaud, M

Publication type:

Letter to the Editor

Molecular testing in congenital adrenal hyperplasia due to 21 α-hydroxylase deficiency in the era of newborn screening.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 64, doi. 10.1111/j.1399-0004.2011.01694.x

By:

Sarafoglou, K;
Lorentz, C P;
Otten, N;
Oetting, W S;
Grebe, S K G

Publication type:

Article

Whole genomes in the clinic: uncovering de novo mutations in sporadic infantile epilepsy.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 28, doi. 10.1111/j.1399-0004.2012.01893.x

By:

Kay, C

Publication type:

Article

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 100, doi. 10.1111/j.1399-0004.2011.01824.x

By:

Prokofyeva, D;
Bogdanova, N;
Bermisheva, M;
Zinnatullina, G;
Hillemanns, P;
Khusnutdinova, E;
Dörk, T

Publication type:

Article

What can we learn from old microdeletion syndromes using array-CGH screening?

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 41, doi. 10.1111/j.1399-0004.2011.01747.x

By:

Mosca-Boidron, A L;
Bouquillon, S;
Faivre, L;
Callier, P;
Andrieux, J;
Marle, N;
Bonnet, C;
Vincent-Delorme, C;
Berri, M;
Plessis, G;
Manouvrier-Hanu, S;
Dieux-Coeslier, A;
Thauvin-Robinet, C;
Pipiras, E;
Delahaye, A;
Payet, M;
Ragon, C;
Masurel-Paulet, A;
Questiaux, E;
Benzacken, B

Publication type:

Article

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 71, doi. 10.1111/j.1399-0004.2011.01725.x

By:

Roudgari, H;
Farndon, P A;
Murray, A D;
Hardy, C;
Miedzybrodzka, Z

Publication type:

Article

Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 30, doi. 10.1111/j.1399-0004.2012.01870.x

By:

Wessels, M;
Willems, P J

Publication type:

Article

Stüve-Wiedemann syndrome and related bent bone dysplasias.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 12, doi. 10.1111/j.1399-0004.2012.01852.x

By:

Akawi, N A;
Ali, B R;
Al-Gazali, L

Publication type:

Article

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 48, doi. 10.1111/j.1399-0004.2011.01698.x

By:

Khan, S;
Basit, S;
Zimri, F K;
Ali, N;
Ali, G;
Ansar, M;
Ahmad, W

Publication type:

Article

Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 97, doi. 10.1111/j.1399-0004.2011.01826.x

By:

Grandval, P;
Baert-Desurmont, S;
Bonnet, F;
Bronner, M;
Buisine, M-P;
Colas, C;
Noguchi, T;
North, M-O;
Rey, J-M;
Tinat, J;
Toulas, C;
Olschwang, S

Publication type:

Article

Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 29, doi. 10.1111/j.1399-0004.2012.01888.x

By:

Jan, A

Publication type:

Article

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 77, doi. 10.1111/j.1399-0004.2011.01693.x

By:

Kim, S Y;
Seong, M W;
Jeon, B S;
Ko, H S;
Kim, J Y;
Park, S S

Publication type:

Article

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 33, doi. 10.1111/j.1399-0004.2011.01749.x

By:

Guegan, K;
Stals, K;
Day, M;
Turnpenny, P;
Ellard, S

Publication type:

Article

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 88, doi. 10.1111/j.1399-0004.2011.01675.x

By:

Loesch, D Z;
Sherwell, S;
Kinsella, G;
Tassone, F;
Taylor, A;
Amor, D;
Sung, S;
Evans, A

Publication type:

Article

The Ehlers-Danlos syndrome, a disorder with many faces.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 1, doi. 10.1111/j.1399-0004.2012.01858.x

By:

De Paepe, A;
Malfait, F

Publication type:

Article

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.

Published in:

Clinical Genetics, 2012, v. 82, n. 1, p. 83, doi. 10.1111/j.1399-0004.2011.01726.x

By:

Piaceri, I;
Del Mastio, M;
Tedde, A;
Bagnoli, S;
Latorraca, S;
Massaro, F;
Paganini, M;
Corrado, A;
Sorbi, S;
Nacmias, B

Publication type:

Article