Works matching IS 00099163 AND DT 2008 AND VI 74 AND IP 2

Results: 13

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 116, doi. 10.1111/j.1399-0004.2008.01005.x

By:

Schüle, B.;
Armstrong, D. D.;
Vogel, H.;
Oviedo, A.;
Francke, U.

Publication type:

Article

Autism-associated familial microdeletion of Xp11.22.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 134, doi. 10.1111/j.1399-0004.2008.01028.x

By:

Qiao, Y.;
Liu, X.;
Harvard, C.;
Hildebrand, M. J.;
Rajcan-Separovic, E.;
Holden, J. J. A.;
Lewis, M. E. S.

Publication type:

Article

Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 105, doi. 10.1111/j.1399-0004.2008.01033.x

By:

Han, H. R.;
Ryu, H. -J.;
Cha, H. S.;
Go, M. J.;
Ahn, Y.;
Koo, B. K.;
Cho, Y. M.;
Lee, H. K.;
Cho, N. H.;
Shin, C.;
Shin, H. D.;
Kimm, K.;
Kim, H.-L.;
Oh, B.;
Park, K. S.

Publication type:

Article

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.

Published in:

2008

By:

Coutinho, M. F.;
Lacerda, L.;
Prata, M. J.;
Ribeiro, H.;
Lopes, L.;
Ferreira, C.;
Alves, S.

Publication type:

Letter

A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 184, doi. 10.1111/j.1399-0004.2008.01011.x

By:

Jelani, M.;
Wasif, N.;
Ali, G.;
Chishti, M. S.;
Ahmad, W.

Publication type:

Article

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 145, doi. 10.1111/j.1399-0004.2008.01026.x

By:

Menko, F. H.;
Kneepkens, C. M. F.;
De Leeuw, N.;
Peeters, E. A. J.;
Van Maldergem, L.;
Kamsteeg, E. J.;
Davidson, R.;
Rozendaal, L.;
Lasham, C. A.;
Peeters-Scholte, C. M. P.;
Jansweijer, M. C.;
Hilhorst-Hofstee, Y.;
Gille, J. J. P.;
Heins, Y. M.;
Nieuwint, A. W. M.;
Sistermans, E. A.

Publication type:

Article

Progress toward cell-directed therapy for phenylketonuria.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 97, doi. 10.1111/j.1399-0004.2008.01027.x

By:

Harding, C. O.

Publication type:

Article

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

Published in:

2008

By:

Faiyaz-Ul-Haque, Muhammad;
Zaidi, S. H. E.;
A. A. Wahab;
Eltohami, A.;
Al-Mureikhi, M. S.;
Al-Thani, G.;
Peltekova, V. D.;
Tsui, L. -C.;
Teebi, A. S.

Publication type:

Letter

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 171, doi. 10.1111/j.1399-0004.2008.01029.x

By:

Brakensiek, K.;
Frye-Boukhriss, H.;
Mälzer, M.;
Abramowicz, M.;
Bahr, M. J.;
Von Beckerath, N.;
Bergmann, C.;
Caselitz, M.;
Holinski-Feder, E.;
Muschke, P.;
Oexle, K.;
Strobl-Wildemann, G.;
Wolff, G.;
El-Harith, E. A.;
Stuhrmann, M.

Publication type:

Article

Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 178, doi. 10.1111/j.1399-0004.2008.01030.x

By:

Ren, H. -Z.;
Zhu, C. -C.;
Yang, C.;
Chen, S. -L.;
Xie, J.;
Hou, Y. -Y.;
Xu, Z. -F.;
Wang, D. -J.;
Mu, D. -K.;
Ma, D. -H.;
Wang, Y.;
Ye, M. -H.;
Ye, Z. -R.;
Chen, B. -F.;
Wang, C. -G.;
Lin, J.;
Qiao, D.;
Yi, L.

Publication type:

Article

Cathepsin S genotypes are associated with Apo-A1 and HDL-cholesterol in lean and obese French populations.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 155, doi. 10.1111/j.1399-0004.2008.01043.x

By:

Spielmann, N.;
Mutch, D. M.;
Rousseau, F.;
Tores, F.;
Hager, J.;
Bertrais, S.;
Basdevant, A.;
Tounian, P.;
Dubern, B.;
Galan, P.;
Clément, K.

Publication type:

Article

Laminopathies in Russian families.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 127, doi. 10.1111/j.1399-0004.2008.01045.x

By:

Rudenskaya, G. E.;
Polyakov, A. V.;
Tverskaya, S. M.;
Zaklyazminskaya, E. V.;
Chukhrova, A. L.;
Groznova, O. E.;
Ginter, E. K.

Publication type:

Article

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Published in:

Clinical Genetics, 2008, v. 74, n. 2, p. 164, doi. 10.1111/j.1399-0004.2008.01047.x

By:

Brancati, F.;
Travaglini, L.;
Zablocka, D.;
Boltshauser, E.;
Accorsi, P.;
Montagna, G.;
Silhavy, J. L.;
Barrano, G.;
Bertini, E.;
Emma, F.;
Rigoli, L.;
Dallapiccola, B.;
Gleeson, J. G.;
Valente, E. M.

Publication type:

Article