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

Results: 14

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
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
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
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
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
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
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
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
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
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
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
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