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

Results: 15

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
Sibling recurrence in intellectual disability of unknown cause.
Published in:
2011
By:
- Collins, J. S.;
- Marvelle, A. F.;
- Stevenson, R. E.
Publication type:
Letter
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
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
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
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
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
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