Works matching IS 00099163 AND DT 2005 AND VI 68 AND IP 5

Results: 17

Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 424, doi. 10.1111/j.1399-0004.2005.00504.x

By:

Hu, F. Z.;
Nystrom, A.;
Ahmed, A.;
Palmquist, M.;
Dopico, R.;
Mossberg, I.;
Gladitz, J.;
Rayner, M.;
Post, J. C.;
Ehrlich, G. D.;
Preston, R. A.

Publication type:

Article

Analysis of PINK1 in Asian patients with familial parkinsonism.

Published in:

2005

By:

Tan, E. K.;
Yew, K.;
Chua, E.;
Shen, H.;
Jamora, R. D.;
Lee, E.;
Puong, K. Y.;
Y. Zhao;
R. Pavanni;
M. C. Wong;
K. Puvan;
Y. Yih;
Tan, L. C. S.

Publication type:

Letter

Subtelomeric chromosome aberrations: still a lot to learn.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 397, doi. 10.1111/j.1399-0004.2005.00506.x

By:

Moog, U.;
Arens, Y. H. J. M.;
van Lent-Albrechts, J. C. M.;
Huijts, P. E. A.;
Smeets, E. E. J.;
Schrander-Stumpel, C. T. R. M.;
Engelen, J. J. M.

Publication type:

Article

Discrepancies in upper and lower limb patterning in split hand foot malformation.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 408, doi. 10.1111/j.1399-0004.2005.00511.x

By:

Elliott, A. M.;
Reed, M. H.;
Roscioli, T.;
Evans, J. A.

Publication type:

Article

Recurrent trisomy 21: four cases in three generations.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 430, doi. 10.1111/j.1399-0004.2005.00512.x

By:

Gair, J. L.;
Arbour, L.;
Rupps, R.;
Jiang, R.;
Bruyère, H.;
Robinson, W. P.

Publication type:

Article

Spectrum of mutations in the Wilson disease gene ( ATP7B) in the Bulgarian population.

Published in:

2005

By:

Todorov, T.;
Savov, A.;
Jelev, H.;
Panteleeva, E.;
Konstantinova, D.;
Krustev, Z.;
Mihaylova, V.;
Tournev, I.;
Tankova, L.;
Tzolova, N.;
Kremensky, I.

Publication type:

Letter

Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 454, doi. 10.1111/j.1399-0004.2005.00517.x

By:

Sultana, A.;
Sridhar, M. S.;
Klintworth, G. K.;
Balasubramanian, D.;
Kannabiran, C.

Publication type:

Article

Evidence for deletion of 9q as a two-step process in chronic myeloid leukemia.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 461, doi. 10.1111/j.1399-0004.2005.00521.x

By:

Rudduck-Sivaswaren, C.;
Tien, S.-L.;
Lim, P.;
Lim, E.;
Lie, D. K. H.;
Tan, P. H. C.;
Lee, A. S. G.

Publication type:

Article

Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 436, doi. 10.1111/j.1399-0004.2005.00513.x

By:

Yu, S.;
Baker, E.;
Hinton, L.;
Eyre, H. J.;
Waters, W.;
Higgins, S.;
Sutherland, G. R.;
Haan, E.

Publication type:

Article

Taking out the trash: dynein mutations in autophagy and neurodegenerative disorders.

Published in:

2005

By:

Bombard, Y.

Publication type:

Other

Expansion of an intermediate allele of the FMR1 gene in only two generations.

Published in:

2005

By:

Zuñiga, A.;
Juan, J.;
Mila, M.;
Guerrero, A.

Publication type:

Letter

Recent insights into the Smith–Lemli–Opitz syndrome.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 383, doi. 10.1111/j.1399-0004.2005.00515.x

By:

Yu, H.;
Patel, S. B.

Publication type:

Article

Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 442, doi. 10.1111/j.1399-0004.2005.00519.x

By:

Ponti, G.;
Ponz de Leon, M.;
Maffei, S.;
Pedroni, M.;
Losi, L.;
Di Gregorio, C.;
Gismondi, V.;
Scarselli, A.;
Benatti, P.;
Roncari, B.;
Seidenari, S.;
Pellacani, G.;
Varotti, C.;
Prete, E.;
Varesco, L.;
Roncucci, L.

Publication type:

Article

An analysis of PAX1 in the development of vertebral malformations.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 448, doi. 10.1111/j.1399-0004.2005.00520.x

By:

Giampietro, P. F.;
Raggio, C. L.;
Reynolds, C. E.;
Shukla, S. K.;
McPherson, E.;
Ghebranious, N.;
Jacobsen, F. S.;
Kumar, V.;
Faciszewski, T.;
Pauli, R. M.;
Rasmussen, K.;
Burmester, J. K.;
Zaleski, C.;
Merchant, S.;
David, D.;
Weber, J. L.;
Glurich, I.;
Blank, R. D.

Publication type:

Article

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus–Merzbacher disease.

Published in:

Clinical Genetics, 2005, v. 68, n. 5, p. 466, doi. 10.1111/j.1399-0004.2005.00522.x

By:

Gao, Q.;
Thurston, V. C.;
Vance, G. H.;
Dlouhy, S. R.;
Hodes, M. E.

Publication type:

Article

Genetic screening for colon cancer.

Published in:

2005

By:

Helm, J. R.

Publication type:

Other

The association between SNPs in the MHC2TA promoter and immune-related human diseases.

Published in:

2005

By:

Kang, M.

Publication type:

Other