Works matching IS 00099163 AND DT 2004 AND VI 65 AND IP 4

Results: 19

Short Report Mutational spectrum in Usher syndrome type II.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 288, doi. 10.1046/j.1399-0004.2004.00216.x

By:

Ouyang, X.M.;
Yam, D.;
Hejtmancik, J.F.;
Jacobson, S.G.;
Li, A.R.;
Du, L.L.;
Angeli, S.;
Kaiser, M.;
Balkany, T.;
Liu, X.Z.

Publication type:

Article

Short Report Terminal deletion of the long arm of chromosome 10.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 294, doi. 10.1111/j.1399-0004.2004.00218.x

By:

Scigliano, S.;
Grégoire, M.J.;
Schmitt, M.;
Jonveaux, P.H.;
LeHeup, B.

Publication type:

Article

Short Report The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 299, doi. 10.1111/j.1399-0004.2004.00219.x

By:

Whybra, C.;
Kampmann, C.;
Krummenauer, F.;
Ries, M.;
Mengel, E.;
Miebach, E.;
Baehner, F.;
Kim, K.;
Bajbouj, M.;
Schwarting, A.;
Gal, A.;
Beck, M.

Publication type:

Article

Short Report Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 317, doi. 10.1111/j.1399-0004.2004.00222.x

By:

Kotze, M.J.;
de Villiers, J.N.P.;
Bouwens, C.S.H.;
Warnich, L.;
Zaahl, M.G.;
van der Merwe, S.;
Oberkanins, C.

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 2004, v. 65, n. 4, p. 346, doi. 10.1111/j.1399-0004.2004.00248.x
Publication type:: Article

Short Report Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 278, doi. 10.1111/j.1399-0004.2004.00228.x

By:

Sher, C.;
Romano-Zelekha, O.;
Green, M.S.;
Shohat, T.

Publication type:

Article

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 267, doi. 10.1111/j.1399-0004.2004.00241.x

By:

Langbehn, D.R.;
Brinkman, R.R.;
Falush, D.;
Paulsen, J.S.;
Hayden, M.R.

Publication type:

Article

Short Report Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 308, doi. 10.1111/j.1399-0004.2004.00220.x

By:

Kievit, W.;
de Bruin, J.H.F.M.;
Adang, E.M.M.;
Ligtenberg, M.J.L.;
Nagengast, F.M.;
van Krieken, J.H.J.M.;
Hoogerbrugge, N.

Publication type:

Article

HotSpot The hunt for BRCA2 interactors scores a big hit: EMSY as a prognostic tool for sporadic breast cancer.

Published in:

2004

By:

Slow, E.J.

Publication type:

Other

Short Report Detection of RAG mutations and prenatal diagnosis in families presenting with either T–B– severe combined immunodeficiency or Omenn's syndrome.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 322, doi. 10.1111/j.1399-0004.2004.00227.x

By:

Tabori, U.;
Mark, Z.;
Amariglio, N.;
Etzioni, A.;
Golan, H.;
Biloray, B.;
Toren, A.;
Rechavi, G.;
Dalal, I.

Publication type:

Article

Short Report Novel CFTR mutations in black cystic fibrosis patients.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 284, doi. 10.1111/j.1399-0004.2004.00230.x

By:

Feuillet-Fieux, M.N.;
Ferrec, M.;
Gigarel, N.;
Thuillier, L.;
Sermet, I.;
Steffann, J.;
Lenoir, G.;
Bonnefont, J.P.

Publication type:

Article

Short Report Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 327, doi. 10.1111/j.1399-0004.2004.00229.x

By:

Karpf, J.;
Turk, J.;
Howlin, P.

Publication type:

Article

Short Report Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00232.x

By:

Sripriya, S.;
Uthra, S.;
Sangeetha, R.;
George, R.J.;
Hemamalini, A.;
Paul, P.G.;
Amali, J.;
Vijaya, L.;
Kumaramanickavel, G.

Publication type:

Article

Letter to the Editor Genetic counseling of medullary breast cancer patients.

Published in:

2004

By:

Kroupis, C.;
Lianidou, E.;
Goutas, N.;
Vasilaros, S.;
Yannoukakos, D.;
Petersen, M.B.

Publication type:

Letter

Short Report The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 338, doi. 10.1111/j.1399-0004.2004.00233.x

By:

Fitzgerald, T.;
Duva, S.;
Ostrer, H.;
Pass, K.;
Oddoux, C.;
Ruben, R.;
Caggana, M.

Publication type:

Article

Developmental Biology: Frontiers for Clinical Genetics Section Editors: Roderick R. McInnes, e-mail: Jacques Michaud, e-mail: Reproductive epigenetics.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 247, doi. 10.1111/j.0009-9163.2004.00236.x

By:

Kelly, T.L.J.;
Trasler, J.M.

Publication type:

Article

HotSpot From families to genes and back: can a hemochromatosis gene help treat the anemia of chronic disease?

Published in:

2004

By:

Slow, E.J.

Publication type:

Other

HotSpot Pyruvate kinase deficiency: providing protection from Plasmodium parasitism.

Published in:

Clinical Genetics, 2004, v. 65, n. 4, p. 264, doi. 10.1111/j.0009-9163.2004.0240c.x

By:

Coburn, B.A.

Publication type:

Article

Erratum.

Published in:: 2004
Publication type:: Correction Notice