Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 2

Results: 16

Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 169, doi. 10.1111/j.1399-0004.2009.01358.x

By:

Almaguer-Mederos, L. E.;
Falcón, N. S.;
Almira, Y. R.;
Zaldivar, Y. G.;
Almarales, D. C.;
Góngora, E. M.;
Herrera, M. P.;
Batallán, K. E.;
Armiñán, R. R.;
Manresa, M. V.;
Cruz, G. S.;
Laffita-Mesa, J.;
Cyuz, T. M.;
Chang, V.;
Auburger, G.;
Gispert, S.;
Pérez, L. V.

Publication type:

Article

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 162, doi. 10.1111/j.1399-0004.2010.01373.x

By:

Alliman, S.;
Coppinger, J.;
Marcadier, J.;
Thiese, H.;
Brock, P.;
Shafer, S.;
Weaver, C.;
Asamoah, A.;
Leppig, K.;
Dyack, S.;
Morash, B.;
Schultz, R.;
Torchia, B. S.;
Lamb, A. N.;
Bejjani, B. A.

Publication type:

Article

Gaucher disease: frequency of the N370S mutation in the Greek population.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 195, doi. 10.1111/j.1399-0004.2010.01381.x

By:

Dimitriou, E.;
Moraitou, M.;
Troungos, C.;
Schulpis, K.;
Michelakakis, H.

Publication type:

Article

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 186, doi. 10.1111/j.1399-0004.2009.01346.x

By:

Menéndez, M.;
Castellví-Bel, S.;
Pineda, M.;
de Cid, R.;
Muñoz, J.;
González, S.;
Teulé, À.;
Balaguer, F.;
Ramón y Cajal, T.;
Reñé, Josep M.;
Blanco, I.;
Castells, A.;
Capellà, G.

Publication type:

Article

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 181, doi. 10.1111/j.1399-0004.2009.01359.x

By:

Lakhal, B.;
Braham, R.;
Berguigua, R.;
Bouali, N.;
Zaouali, M.;
Chaieb, M.;
Veitia, R. A.;
Saad, A.;
Elghezal, H.

Publication type:

Article

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency onl-carnitine supplementation.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 191, doi. 10.1111/j.1399-0004.2009.01368.x

By:

Sarafoglou, K.;
Tridgell, A. H. C.;
Bentler, K.;
Redlinger-Grosse, K.;
Berry, S. A.;
Schimmenti, L. A.

Publication type:

Article

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 175, doi. 10.1111/j.1399-0004.2010.01371.x

By:

Makrythanasis, P.;
Moix, I.;
Gimelli, S.;
Fluss, J.;
Aliferis, K.;
Antonarakis, S. E.;
Morris, M. A.;
Béna, F.;
Bottani, A.

Publication type:

Article

Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 197, doi. 10.1111/j.1399-0004.2010.01382.x

By:

Sow, A. J.;
Ramli, R.;
Latiff, Z. A.;
Ichikawa, S.;
Gray, A. K.;
Nordin, R.;
Abd Jabar, M. N.;
Primuharsa Putra, S. H. A.;
Siar, C. H.;
Econs, M. J.

Publication type:

Article

Autosomal recessive LMNA mutation causing Restrictive Dermopathy.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 199, doi. 10.1111/j.1399-0004.2010.01385.x

By:

Youn, G. J.;
Uzunyan, M.;
Vachon, L.;
Johnson, J.;
Winder, T. L.;
Yano, S.

Publication type:

Article

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 139, doi. 10.1111/j.1399-0004.2010.01430.x

By:

Xiong, F.;
Sun, M.;
Zhang, X.;
Cai, R.;
Zhou, Y.;
Lou, J.;
Zeng, L.;
Sun, Q.;
Xiao, Q.;
Shang, X.;
Wei, X.;
Zhang, T.;
Chen, P.;
Xu, X.

Publication type:

Article

Delineation of 15q13.3 microdeletions.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 149, doi. 10.1111/j.1399-0004.2010.01374.x

By:

Masurel-Paulet, A.;
Andrieux, J.;
Callier, P.;
Cuisset, J. M.;
Le Caignec, C.;
Holder, M.;
Thauvin-Robinet, C.;
Doray, B.;
Flori, E.;
Alex-Cordier, M. P.;
Beri, M.;
Boute, O.;
Delobel, B.;
Dieux, A.;
Vallee, L.;
Jaillard, S.;
Odent, S.;
Isidor, B.;
Beneteau, C.;
Vigneron, J.

Publication type:

Article

Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 124, doi. 10.1111/j.1399-0004.2010.01466.x

By:

Pal, T.;
Stowe, C.;
Cole, A.;
Lee, J-H;
Zhao, X.;
Vadaparampil, S.

Publication type:

Article

‘Kir’-ing thyrotoxic periodic paralysis.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 136, doi. 10.1111/j.1399-0004.2010.01452_3.x

By:

Kang, M. H.

Publication type:

Article

Genetic factors in non-syndromic congenital heart malformations.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 103, doi. 10.1111/j.1399-0004.2010.01435.x

By:

Wessels, M. W.;
Willems, P. J.

Publication type:

Article

Exome sequencing: expanding the genetic testing toolbox.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 132, doi. 10.1111/j.1399-0004.2010.01452_1.x

By:

Kobelka, C. E.

Publication type:

Article

Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 134, doi. 10.1111/j.1399-0004.2010.01452_2.x

By:

Sawkins, J. N.

Publication type:

Article