Works matching IS 00099163 AND DT 2005 AND VI 67 AND IP 4

Results: 18

Genetics of individual differences in bitter taste perception: lessons from thePTCgene.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 275, doi. 10.1111/j.1399-0004.2004.00361.x

By:

Kim, U.K.;
Drayna, D.

Publication type:

Article

Glyc-O-genetics of Walker–Warburg syndrome.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 281, doi. 10.1111/j.1399-0004.2004.00368.x

By:

van Reeuwijk, J.;
Brunner, H.G.;
van Bokhoven, H.

Publication type:

Article

Novel mutations in thecalpain 3gene in Germany.

Published in:

2005

By:

Todorova, A.;
Kress, W.;
Mueller, C. R.

Publication type:

Letter

Association ofCOL1A2,COL2A1andCOL9A1and primary osteoarthritis in a founder population.

Published in:

2005

By:

Snelgrove, T. A.;
Peddle, L. J.;
Stone, C.;
Noftall, F.;
Peddle, D.;
Squire, D.;
Rockwood, P.;
Martin, R.;
Tobin, Y.;
Gladney, N.;
Rahman, P.

Publication type:

Letter

Identification of germlineBRCA1andBRCA2genetic alterations in Greek breast cancer moderate-risk and low-risk individuals– correlation with clinicopathological data.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 322, doi. 10.1111/j.1399-0004.2004.00400.x

By:

Kataki, A.;
Gomatos, I.P.;
Pararas, N.;
Armakolas, A.;
Panousopoulos, D.;
Karantzikos, G.;
Voros, D.;
Zografos, G.;
Markopoulos, C.;
Leandros, E.;
Konstadoulakis, M.M.

Publication type:

Article

Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin-X mutations.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 330, doi. 10.1111/j.1399-0004.2005.00401.x

By:

Zweers, M.C.;
Dean, W.B.;
van Kuppevelt, T.H.;
Bristow, J.;
Schalkwijk, J.

Publication type:

Article

A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 303, doi. 10.1111/j.1399-0004.2004.00405.x

By:

Hunter, A.G.W.;
Cappelli, M.;
Humphreys, L.;
Allanson, J.E.;
Chiu, T.T.;
Peeters, C.;
Moher, D.;
Zimak, A.

Publication type:

Article

A variant Cri du Chat phenotype and autism spectrum disorder in a subject withde novocryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 341, doi. 10.1111/j.1399-0004.2005.00406.x

By:

Harvard, C.;
Malenfant, P.;
Koochek, M.;
Creighton, S.;
Mickelson, E.C.R.;
Holden, J.J.A.;
Lewis, M.E.S.;
Rajcan-Separovic, E.

Publication type:

Article

A search for the gene(s) predisposing to idiopathic clubfoot.

Published in:

2005

By:

Dietz, F. R.;
Cole, W. G.;
Tosi, L. L.;
Carroll, N. C.;
Werner, R. D.;
Comstock, D.;
Murray, J. C.

Publication type:

Letter

Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

Published in:

2005

By:

MacDonald, M. L. E.;
Goldberg, Y. P.;
MacFarlane, J.;
Samuels, M. E.;
Trese, M. T.;
Shastry, B. S.

Publication type:

Letter

LARALink: a web application for cytogenetic linkage analysis.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 314, doi. 10.1111/j.1399-0004.2005.00409.x

By:

Fayz, B.;
Moldenhauer, J.S.;
Wang, D.;
Zhao, C.;
Yao, B.;
Liu, D.;
Weinsheimer, S.;
Gardner, L.;
Johnson, A.;
Womble, D.D.;
Krawetz, S.A.

Publication type:

Article

Myocilin gene implicated in primary congenital glaucoma.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 335, doi. 10.1111/j.1399-0004.2005.00411.x

By:

Kaur, K.;
Reddy, A.B.M.;
Mukhopadhyay, A.;
Mandal, A.K.;
Hasnain, S.E.;
Ray, K.;
Thomas, R.;
Balasubramanian, D.;
Chakrabarti, S.

Publication type:

Article

The I1307K APC mutation in a high-risk clinic setting: a follow-up study.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 352, doi. 10.1111/j.1399.0004.2005.00412.x

By:

Regev, M.;
Barzilai, S.-Eisenberg;
Figer, A.;
Zidan, J.;
Fidder, H. H.;
Friedman, E.

Publication type:

Article

Xp22.3 microdeletion includingVCX-AandVCX-B1genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.

Published in:

2005

By:

Lesca, G.;
Sinilnikova, O. M.;
Theuil, G.;
Blanc, J. F.;
Edery, P.;
Till, M.

Publication type:

Letter

TheZICgene family in development and disease.

Published in:

Clinical Genetics, 2005, v. 67, n. 4, p. 290, doi. 10.1111/j.1399-0004.2005.00418.x

By:

Grinberg, I.;
Millen, K.J.

Publication type:

Article

Thrombosis in autoimmune disease: MBL2 genotyping identifies at-risk people.

Published in:

2005

By:

Haigh, B.

Publication type:

Other

Inherited microdeletions that give rise to Beckwith–Wiedemann syndrome.

Published in:

2005

By:

Kang, M.

Publication type:

Other

Juvenile myoclonic epilepsy, calcium and the EF hand of death.

Published in:

2005

By:

Pouladi, M. A.

Publication type:

Other