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

Results: 16

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
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
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
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
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
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
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
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
‘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
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