Works matching IS 00099163 AND DT 2011 AND VI 79 AND IP 3

Results: 16

Functional analysis of splicing mutations in MYO7A and USH2A genes.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 282, doi. 10.1111/j.1399-0004.2010.01454.x

By:

Jaijo, T.;
Aller, E.;
Aparisi, M. J.;
García-García, G.;
Hernan, I.;
Gamundi, M. J.;
Nájera, C.;
Carballo, M.;
Millán, J. M.

Publication type:

Article

Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 222, doi. 10.1111/j.1399-0004.2010.01612.x

By:

Metzler, M.

Publication type:

Article

Evolutionary evidence of the effect of rare variants on disease etiology.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 199, doi. 10.1111/j.1399-0004.2010.01535.x

By:

Gorlov, I. P.;
Gorlova, O. Y.;
Frazier, M. L.;
Spitz, M. R.;
Amos, C. I.

Publication type:

Article

PRRX1 is mutated in a fetus with agnathia-otocephaly.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 293, doi. 10.1111/j.1399-0004.2010.01531.x

By:

Sergi, C.;
Kamnasaran, D.

Publication type:

Article

Twenty-five novel mutations including duplications in the ATP7A gene.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 243, doi. 10.1111/j.1399-0004.2010.01461.x

By:

Moizard, M.-P.;
Ronce, N.;
Blesson, S.;
Bieth, E.;
Burglen, L.;
Mignot, C.;
Mortemousque, I.;
Marmin, N.;
Dessay, B.;
Danesino, C.;
Feillet, F.;
Castelnau, P.;
Toutain, A.;
Moraine, C.;
Raynaud, M.

Publication type:

Article

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01579.x

By:

Helderman-van den Enden, A. T. J. M.;
van den Bergen, J. C.;
Breuning, M. H.;
Verschuuren, J. J. G. M.;
Tibben, A.;
Bakker, E.;
Ginjaar, H. B.

Publication type:

Article

Response to Satgé and Vekemans.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 291, doi. 10.1111/j.1399-0004.2010.01520.x

By:

Pussegoda, K.

Publication type:

Article

RUNX2 analysis of Danish cleidocranial dysplasia families.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 254, doi. 10.1111/j.1399-0004.2010.01458.x

By:

Hansen, L.;
Riis, A. K.;
Silahtaroglu, A.;
Hove, H.;
Lauridsen, E.;
Eiberg, H.;
Kreiborg, S.

Publication type:

Article

Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 219, doi. 10.1111/j.1399-0004.2010.01610.x

By:

Metzler, M.

Publication type:

Article

Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 207, doi. 10.1111/j.1399-0004.2010.01581.x

By:

Vos, J.;
Oosterwijk, J. C.;
Gómez-García, E.;
Menko, F. H.;
Jansen, A. M.;
Stoel, R. D.;
van Asperen, C. J.;
Tibben, A.;
Stiggelbout, A. M.

Publication type:

Article

Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 264, doi. 10.1111/j.1399-0004.2010.01460.x

By:

van de Kamp, J. M.;
Mancini, G. M. S.;
Pouwels, P. J. W.;
Betsalel, O. T.;
van Dooren, S. J. M.;
de Koning, I.;
Steenweg, M. E.;
Jakobs, C.;
van der Knaap, M. S.;
Salomons, G. S.

Publication type:

Article

Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegeneration.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 221, doi. 10.1111/j.1399-0004.2010.01611.x

By:

Metzler, M.

Publication type:

Article

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 225, doi. 10.1111/j.1399-0004.2010.01551.x

By:

Germanaud, D.;
Rossi, M.;
Bussy, G.;
Gérard, D.;
Hertz-Pannier, L.;
Blanchet, P.;
Dollfus, H.;
Giuliano, F.;
Bennouna-Greene, V.;
Sarda, P.;
Sigaudy, S.;
Curie, A.;
Vincent, M. C.;
Touraine, R.;
des Portes, V.

Publication type:

Article

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 296, doi. 10.1111/j.1399-0004.2010.01544.x

By:

van Bon, B. W. M.;
Hoischen, A.;
Hehir-Kwa, J.;
de Brouwer, A. P. M.;
Ruivenkamp, C.;
Gijsbers, A. C. J.;
Marcelis, C. L.;
de Leeuw, N.;
Veltman, J. A.;
Brunner, H. G.;
de Vries, B. B. A.

Publication type:

Article

Down syndrome patients are less likely to develop some (but not all) malignant solid tumours.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 289, doi. 10.1111/j.1399-0004.2010.01521.x

By:

Satgé, Daniel;
Vekemans, Michel

Publication type:

Article

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 273, doi. 10.1111/j.1399-0004.2010.01455.x

By:

Basit, S.;
Wali, A.;
Aziz, A.;
Muhammad, N.;
Jelani, M.;
Ahmad, W.

Publication type:

Article