Works matching IS 00099163 AND DT 2011 AND VI 79 AND IP 5

Results: 15

Sibling recurrence in intellectual disability of unknown cause.

Published in:

2011

By:

Collins, J. S.;
Marvelle, A. F.;
Stevenson, R. E.

Publication type:

Letter

Haplotype sharing test maps genes for familial cardiomyopathies.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 459, doi. 10.1111/j.1399-0004.2010.01472.x

By:

van der Zwaag, P. A.;
van Tintelen, J. P.;
Gerbens, F.;
Jongbloed, J. D. H.;
Boven, L. G.;
van der Smagt, J. J.;
van der Roest, W. P.;
van Langen, I. M.;
Bikker, H.;
Hauer, R. N. W.;
van den Berg, M. P.;
Hofstra, R. M. W.;
te Meerman, G. J.

Publication type:

Article

Step to CEP152: uncovering a new mutation implicated in Seckel syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 428, doi. 10.1111/j.1399-0004.2011.01655.x

By:

Ladha, S.

Publication type:

Article

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 495, doi. 10.1111/j.1399-0004.2010.01576.x

By:

Schrauwen, I.;
Weegerink, N. J. D.;
Fransen, E.;
Claes, C.;
Pennings, R. J. E.;
Cremers, C. W. R. J.;
Huygen, P. L. M.;
Kunst, H. P. M.;
Van Camp, G.

Publication type:

Article

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 468, doi. 10.1111/j.1399-0004.2010.01495.x

By:

Champion, K. J.;
Bunag, C.;
Estep, A. L.;
Jones, J. R.;
Bolt, C. H.;
Rogers, R. C.;
Rauen, K. A.;
Everman, D. B.

Publication type:

Article

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 489, doi. 10.1111/j.1399-0004.2010.01488.x

By:

Evers, C.;
Heidemann, P. H.;
Dunstheimer, D.;
Schulze, E.;
Haag, C.;
Janssen, J. W. G.;
Fischer, C.;
Jauch, A.;
Moog, U.

Publication type:

Article

De novo paradigm: the ultimate answer to the paradox in mental retardation?

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 427, doi. 10.1111/j.1399-0004.2011.01630.x

By:

Huang, K.

Publication type:

Article

Personalized medicine - the promised land: are we there yet?

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 403, doi. 10.1111/j.1399-0004.2010.01609.x

By:

Li, C.

Publication type:

Article

Breast cancer after bilateral risk-reducing mastectomy.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 431, doi. 10.1111/j.1399-0004.2010.01604.x

By:

Skytte, A.-B.;
Crüger, D.;
Gerster, M.;
Lænkholm, A.-V.;
Lang, C.;
Brøndum-Nielsen, K.;
Andersen, M. K.;
Sunde, L.;
K&;#x00F8;lvraa, S.;
Gerdes, A.-M.

Publication type:

Article

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 438, doi. 10.1111/j.1399-0004.2010.01493.x

By:

Tammaro, A.;
Di Martino, A.;
Bracco, A.;
Cozzolino, S.;
Savoia, G.;
Andria, B.;
Cannavo, A.;
Spagnuolo, M.;
Piluso, G.;
Aurino, S.;
Nigro, V.

Publication type:

Article

Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 482, doi. 10.1111/j.1399-0004.2010.01475.x

By:

Genuis, S. J.;
Lobo, R. A.

Publication type:

Article

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 448, doi. 10.1111/j.1399-0004.2010.01468.x

By:

Hashmi, S. K.;
Allen, C.;
Klaassen, R.;
Fernandez, C. V.;
Yanofsky, R.;
Shereck, E.;
Champagne, J.;
Silva, M.;
Lipton, J. H.;
Brossard, J.;
Samson, Y.;
Abish, S.;
Steele, M.;
Ali, K.;
Dower, N.;
Athale, U.;
Jardine, L.;
Hand, J. P.;
Beyene, J.;
Dror, Y.

Publication type:

Article

The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 413, doi. 10.1111/j.1399-0004.2011.01636.x

By:

McAllister, M.;
Wood, A. M.;
Dunn, G.;
Shiloh, S.;
Todd, C.

Publication type:

Article

Dissecting the genes of familial aortic dissections.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 425, doi. 10.1111/j.1399-0004.2011.01629.x

By:

Huang, K.

Publication type:

Article

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22.

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 475, doi. 10.1111/j.1399-0004.2010.01485.x

By:

Cenarro, A.;
García-Otín, A.-L.;
Tejedor, M. T.;
Solanas, M.;
Jarauta, E.;
Junquera, C.;
Ros, E.;
Mozas, P.;
Puzo, J.;
Pocoví, M.;
Civeira, F.

Publication type:

Article