Works matching IS 00099163 AND DT 2010 AND VI 77 AND IP 6

Results: 14

Novel and recurrent p14<sup>ARF</sup> mutations in Italian familial melanoma.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 581, doi. 10.1111/j.1399-0004.2009.01298.x

By:

Binni, F.;
Antigoni, I.;
De Simone, P.;
Majore, S.;
Silipo, V.;
Crisi, A.;
Amantea, A.;
Pacchiarini, D.;
Castori, M.;
De Bernardo, C.;
Catrical, C.;
Grammatico, P.

Publication type:

Article

Conquering the complex world of human septins: implications for health and disease.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 511, doi. 10.1111/j.1399-0004.2010.01392.x

By:

Peterson, E. A.;
Petty, E. M.

Publication type:

Article

Nexilin: a potential novel factor contributing to dilated cardiomyopathy.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 535, doi. 10.1111/j.1399-0004.2010.01396_1.x

By:

Franciosi, S.

Publication type:

Article

FOXL2 mutations in Tunisian patients with blepharophimosis–ptosis–epicanthus inversus syndrome.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 601, doi. 10.1111/j.1399-0004.2010.01389.x

By:

Kraoua, L.;
Chaabouni, M.;
Trabelsi, M.;
Chelly, I.;
Maazoul, F.;
Ben Abdallah, N.;
Boukthir, S.;
Barsaoui, S.;
Chaabouni, H.;
M'rad, R.

Publication type:

Article

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 552, doi. 10.1111/j.1399-0004.2009.01341.x

By:

Lindstrand, A.;
Schoumans, J.;
Gustavsson, P.;
Hanemaaijer, N.;
Malmgren, H.;
Blennow, E.

Publication type:

Article

Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre-natal diagnosis in a familial lethal form.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 587, doi. 10.1111/j.1399-0004.2009.01339.x

By:

Sbidian, E.;
Feldmann, D.;
Bengoa, J.;
Fraitag, S.;
Abadie, V.;
de Prost, Y.;
Bodemer, C.;
Hadj-Rabia, S.

Publication type:

Article

HDAC7: a viable target in the treatment of cystic fibrosis.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 536, doi. 10.1111/j.1399-0004.2010.01396_2.x

By:

Franciosi, S.

Publication type:

Article

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 563, doi. 10.1111/j.1399-0004.2009.01344.x

By:

Hildebrand, M. S.;
Thorne, N. P.;
Bromhead, C. J.;
Kahrizi, K.;
Webster, J. A.;
Fattahi, Z.;
Bataejad, M.;
Kimberling, W. J.;
Stephan, D.;
Najmabadi, H.;
Bahlo, M.;
Smith, R. J. H.

Publication type:

Article

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 572, doi. 10.1111/j.1399-0004.2009.01356.x

By:

Taylor, A.;
Wang, D.;
Patel, K.;
Whittall, R.;
Wood, G.;
Farrer, M.;
Neely, R. D. G.;
Fairgrieve, S.;
Nair, D.;
Barbir, M.;
Jones, J. L.;
Egan, S.;
Everdale, R.;
Lolin, Y.;
Hughes, E.;
Cooper, J. A.;
Hadfield, S. G.;
Norbury, G.;
Humphries, S. E.

Publication type:

Article

Low predisposition to instability of the Friedreich ataxia gene in Cuban population.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 598, doi. 10.1111/j.1399-0004.2009.01361.x

By:

Mariño, T. C.;
Zaldivar, Y. G.;
Mesa, J. M. L.;
Mederos, L. A.;
Rodríguez, R. A.;
Gotay, D. A.;
Labrada, R. R.;
Ochoa, N. C.;
MacLeod, P.;
Pérez, L. V.

Publication type:

Article

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 593, doi. 10.1111/j.1399-0004.2009.01363.x

By:

Auber, B.;
Burfeind, P.;
Thiels, C.;
Alsat, E. A.;
Shoukier, M.;
Liehr, T.;
Nelle, H.;
Bartels, I.;
Salinas-Riester, G.;
Laccone, F.

Publication type:

Article

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01429.x

By:

Budny, B;
Badura-Stronka, M;
Materna-Kiryluk, A;
Tzschach, A;
Raynaud, M;
Latos-Bielenska, A;
Ropers, HH

Publication type:

Article

De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 538, doi. 10.1111/j.1399-0004.2010.01396_3.x

By:

Franciosi, S.

Publication type:

Article

The Human Phenotype Ontology.

Published in:

Clinical Genetics, 2010, v. 77, n. 6, p. 525, doi. 10.1111/j.1399-0004.2010.01436.x

By:

Robinson, P. N.;
Mundlos, S.

Publication type:

Article