Works matching IS 00099163 AND DT 2005 AND VI 68 AND IP 6

Results: 23

COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology.

Published in:

2005

By:

Cox, Diane W.

Publication type:

Letter

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

Published in:

2005

By:

Zenteno, J. C.;
Gascon-Guzman, G.;
Tovilla-Canales, J. L.

Publication type:

Letter

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high-resolution CGH and multiplex FISH analyses.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 513, doi. 10.1111/j.1399-0004.2005.00523.x

By:

Huang, X-L;
de Michelena, M. I;
Mark, H. F. L.;
Harston, R.;
Benke, P. J.;
Price, S. J.;
Milunsky, A.

Publication type:

Article

Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation.

Published in:

2005

By:

Epaud, R.;
Girodon, E.;
Corvol, H.;
Niel, F.;
Guigonis, V.;
Clement, A.;
Feldmann, D.;
Bensman, A.;
Ulinski, T.

Publication type:

Letter

Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 520, doi. 10.1111/j.1399-0004.2005.00527.x

By:

Vincent, A. L.;
Watkins, W. J.;
Sloan, B. H.;
Shelling, A. N.

Publication type:

Article

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 524, doi. 10.1111/j.1399-0004.2005.00528.x

By:

Gromadzka, G.;
Schmidt, H. H.-J.;
Genschel, J.;
Bochow, B.;
Rodo, M.;
Tarnacka, B.;
Litwin, T.;
Chabik, G.;
Członkowska, A.

Publication type:

Article

GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.

Published in:

2005

By:

Minarik, Gabriel

Publication type:

Letter

CDKL5 and MeCP2: partners in Rett pathogenesis.

Published in:

2005

By:

Warby, S.

Publication type:

Other

Split Hand Foot Malformation (SHFM).

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 501, doi. 10.1111/j.1399-0004.2005.00530.x

By:

Elliott, A. M.;
Evans, J. A.;
Chudley, A. E.

Publication type:

Article

Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.

Published in:

2005

By:

Krahn, M.;
Julia, S.;
Sigaudy, S.;
Liprandi, A.;
Bernard, R.;
Gonnet, K.;
Heuertz, S.;
Bonaventure, J.;
Chau, C.;
Fredouille, C.;
Levy, N.;
Philip, N.

Publication type:

Letter

Three-allele risk haplotype of ENPP1 links obesity to type 2 diabetes risk.

Published in:

2005

By:

Doty, C.

Publication type:

Other

Introduction to Social and Behavioral Research in Genetics.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 571, doi. 10.1111/j.1399-0004.2005.00549.x

By:

Biesecker, Barbara Bowles;
Hayden, Michael R.

Publication type:

Article

Author index.

Published in:: Clinical Genetics, 2005, v. 68, n. 6, p. i, doi. 10.1111/j.1399-0004.2005.0author.x
Publication type:: Article

Subject index.

Published in:: Clinical Genetics, 2005, v. 68, n. 6, p. iv, doi. 10.1111/j.1399-0004.2005.0keyword.x
Publication type:: Article

Pachydermoperiostosis: an update.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 477, doi. 10.1111/j.1399-0004.2005.00533.x

By:

Castori, M.;
Sinibaldi, L.;
Mingarelli, R.;
Lachman, R. S.;
Rimoin, D. L.;
Dallapiccola, B.

Publication type:

Article

Endosomal damage has gone to our heads.

Published in:

2005

By:

Murphy, Z.

Publication type:

Other

Molecular genetics of the early development of hindbrain serotonergic neurons.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 487, doi. 10.1111/j.1399-0004.2005.00534.x

By:

Cordes, S. P;
McInnes, Roderick R.;
Michaud, Jacques L.

Publication type:

Article

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys–Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.

Published in:

2005

By:

Jin, Dong-Kyu

Publication type:

Letter

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 533, doi. 10.1111/j.1399-0004.2005.00537.x

By:

Cederquist, K.;
Emanuelsson, M.;
Wiklund, F.;
Golovleva, I.;
Palmqvist, R.;
Grönberg, H.

Publication type:

Article

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 542, doi. 10.1111/j.1399-0004.2005.00538.x

By:

Wuyts, W.;
Radersma, R.;
Storm, K.;
Vits, L.

Publication type:

Article

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing.

Published in:

Clinical Genetics, 2005, v. 68, n. 6, p. 506, doi. 10.1111/j.1399-0004.2005.00539.x

By:

Hutchin, T.;
Coy, N. N.;
Conlon, H.;
Telford, E.;
Bromelow, K.;
Blaydon, D.;
Taylor, G.;
Coghill, E.;
Brown, S.;
Trembath, R.;
Liu, X. Z.;
Bitner-Glindzicz, M.;
Mueller, R.

Publication type:

Article

Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family.

Published in:

2005

By:

Mégarbané, André

Publication type:

Letter

Corrigendum.

Published in:: 2005
Publication type:: Correction Notice