Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 3

Results: 21

Aging in Rett syndrome: a longitudinal study.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 223, doi. 10.1111/cge.12063

By:

Halbach, NSJ;
Smeets, EEJ;
Steinbusch, C;
Maaskant, MA;
van Waardenburg, D;
Curfs, LMG

Publication type:

Article

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 281, doi. 10.1111/cge.12071

By:

Zampetti, A;
Fania, L;
Antuzzi, D;
Giurdanella, F;
Gnarra, M;
Bertola, F;
Lualdi, S;
Filocamo, M;
Morrone, A;
Feliciani, C

Publication type:

Article

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 244, doi. 10.1111/cge.12062

By:

Pinheiro, M;
Pinto, C;
Peixoto, A;
Veiga, I;
Mesquita, B;
Henrique, R;
Lopes, P;
Sousa, O;
Fragoso, M;
Dias, LM;
Baptista, M;
Marinho, C;
Mangold, E;
Vaccaro, C;
Evans, DG;
Farrington, S;
Dunlop, MG;
Teixeira, MR

Publication type:

Article

Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 210, doi. 10.1111/cge.12175

By:

Lee, JW

Publication type:

Article

Knowledge of the Genetic Information Nondiscrimination act among individuals affected by Huntington disease.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 251, doi. 10.1111/cge.12065

By:

Dorsey, ER;
Darwin, KC;
Nichols, PE;
Kwok, JH;
Bennet, C;
Rosenthal, LS;
Bombard, Y;
Shoulson, I;
Oster, E

Publication type:

Article

Bernarda Strauss, MD, 1964-2013: a remembrance.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 201, doi. 10.1111/cge.12214

By:

Michael Cohen, M.

Publication type:

Article

Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 230, doi. 10.1111/cge.12060

By:

Lemke, AA;
Bick, D;
Dimmock, D;
Simpson, P;
Veith, R

Publication type:

Article

Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 237, doi. 10.1111/cge.12045

By:

Alade, Y;
Tunkel, D;
Schulze, K;
McGready, J;
Jallo, G;
Ain, M;
Yost, T;
Hoover‐Fong, J

Publication type:

Article

WDR45 mutations define a novel disease entity-Static Encephalopathy of Childhood with Neurodegeneration in Adulthood.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 209, doi. 10.1111/cge.12183

By:

Aminkeng, F

Publication type:

Article

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 294, doi. 10.1111/cge.12047

By:

Lee, K;
Chiu, I;
Santos‐Cortez, RLP;
Basit, S;
Khan, S;
Azeem, Z;
Andrade, PB;
Kim, SS;
Ahmad, W;
Leal, SM

Publication type:

Article

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 258, doi. 10.1111/cge.12066

By:

Al‐Owain, M;
Al‐Zahrani, J;
Al‐Bakheet, A;
Abudheim, N;
Al‐Younes, B;
Aldhalaan, H;
Al‐Zaidan, H;
Colak, D;
Almohaileb, F;
Abouzied, ME;
Al‐Fadhli, F;
Meyer, B;
Kaya, N

Publication type:

Article

Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 265, doi. 10.1111/cge.12048

By:

Viggiano, E;
Picillo, E;
Cirillo, A;
Politano, L

Publication type:

Article

Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 276, doi. 10.1111/cge.12059

By:

Xiao, J;
Nance, MA;
LeDoux, MS

Publication type:

Article

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 203, doi. 10.1111/cge.12131

By:

Alkuraya, FS

Publication type:

Article

FANCA and FANCG are the major Fanconi anemia genes in the Korean population.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 271, doi. 10.1111/cge.12042

By:

Park, J;
Chung, N‐G;
Chae, H;
Kim, M;
Lee, S;
Kim, Y;
Lee, J‐W;
Cho, B;
Jeong, DC;
Park, IY

Publication type:

Article

To tell or not to tell - what to do about p. C282Y heterozygotes identified by HFE screening.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 286, doi. 10.1111/cge.12053

By:

Delatycki, MB;
Wolthuizen, M;
Aitken, MA;
Hickerton, C;
Metcalfe, SA;
Allen, KJ

Publication type:

Article

Rare autosomal dominant mutations in GNAL are associated with primary torsion dystonia.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 211, doi. 10.1111/cge.12178

By:

Kaur, A

Publication type:

Article

Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 300, doi. 10.1111/cge.12068

By:

Abdalla, EM;
Morsy Abd Elkader, H

Publication type:

Article

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 213, doi. 10.1111/cge.12064

By:

Carmichael, H;
Shen, Y;
Nguyen, TT;
Hirschhorn, JN;
Dauber, A

Publication type:

Article

A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 297, doi. 10.1111/cge.12057

By:

Delon, I;
Taylor, A;
Molenda, A;
Drummond, J;
Oakhill, K;
Girling, A;
Liu, H;
Whittaker, J;
Treacy, R;
Tischkowitz, M

Publication type:

Article

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 290, doi. 10.1111/cge.12039

By:

Khan, MI;
Ajmal, M;
Micheal, S;
Azam, M;
Hussain, A;
Shahzad, A;
Venselaar, H;
Bokhari, H;
de Wijs, IJ;
Hoefsloot, LH;
Waheed, NK;
Collin, RWJ;
den Hollander, AI;
Qamar, R;
Cremers, FPM

Publication type:

Article