Works matching IS 00099163 AND DT 2010 AND VI 77 AND IP 4

Results: 18

Erratum.

Published in:: 2010
Publication type:: Correction Notice

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 395, doi. 10.1111/j.1399-0004.2009.01338.x

By:

Yang, T.;
Kahrizi, K.;
Bazazzadeghan, N.;
Meyer, N.;
Najmabadi, H.;
Smith, R. J. H.

Publication type:

Article

Announcement.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 305, doi. 10.1111/j.1399-0004.2010.01420.x

By:

Hayden, Michael R.

Publication type:

Article

Non-classic cystic fibrosis associated with D1152H CFTR mutation.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 355, doi. 10.1111/j.1399-0004.2009.01294.x

By:

Burgel, P.-R.;
Fajac, I.;
Hubert, D.;
Grenet, D.;
Stremler, N.;
Roussey, M.;
Siret, D.;
Languepin, J.;
Mely, L.;
Fanton, A.;
Labb, A.;
Domblides, P.;
Vic, P.;
Dagorne, M.;
Reynaud-Gaubert, M.;
Counil, F.;
Varaigne, F.;
Bienvenu, T;
Bellis, G.;
Dusser, D.

Publication type:

Article

Treatment-focused DNA testing for newly diagnosed breast cancer patients: some implications for clinical practice.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 350, doi. 10.1111/j.1399-0004.2009.01307.x

By:

Lobb, E. A.;
Barlow-Stewart, K.;
Suthers, G.;
Hallowell, N.

Publication type:

Article

Co-occurring diagnoses among FMR1 premutation allele carriers.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 374, doi. 10.1111/j.1399-0004.2009.01317.x

By:

Hunter, J. E.;
Rohr, J. K.;
Sherman, S. L.

Publication type:

Article

DISC1 duplication in two brothers with autism and mild mental retardation.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 389, doi. 10.1111/j.1399-0004.2009.01318.x

By:

Crepel, A.;
Breckpot, J.;
Fryns, J.-P.;
De la Marche, W.;
Steyaert, J.;
Devriendt, K.;
Peeters, H.

Publication type:

Article

Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 382, doi. 10.1111/j.1399-0004.2009.01323.x

By:

van der Vorm, A.;
van der Laan, A. L.;
Borm, G.;
Vernooij-Dassen, M.;
Olde Rikkert, M.;
van Leeuwen, E.;
Dekkers, W.

Publication type:

Article

Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 342, doi. 10.1111/j.1399-0004.2009.01329.x

By:

Skytte, A.-B.;
Gerdes, A.-M.;
Andersen, M. K.;
Sunde, L.;
Brøndum-Nielsen, K.;
Waldstrøm, M.;
Kølvraa, S.;
Crüger, D.

Publication type:

Article

Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 365, doi. 10.1111/j.1399-0004.2009.01336.x

By:

Moslehi, R.;
Signore, C.;
Tamura, D.;
Mills, J. L.;
DiGiovanna, J. J.;
Tucker, M. A.;
Troendle, J.;
Ueda, T.;
Boyle, J.;
Khan, S. G.;
Oh, K.-S.;
Goldstein, A. M.;
Kraemer, K. H.

Publication type:

Article

Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 333, doi. 10.1111/j.1399-0004.2009.01352.x

By:

Bartsch, D. K.;
Langer, P.;
Habbe, N.;
Matthäi, E.;
Chaloupka, B.;
Sina, M.;
Hahn, S. A.;
Slater, E. P.

Publication type:

Article

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 404, doi. 10.1111/j.1399-0004.2009.01355.x

By:

Mazzeu, J. F.;
Vianna-Morgante, A. M.;
Krepischi, A. C. V.;
Oudakker, A.;
Rosenberg, C.;
Szuhai, K.;
McGill, J.;
MacCraughan, J.;
van Bokhoven, H.;
Brunner, H. G.

Publication type:

Article

The Trp117Arg mutation of the COCH gene causes deafness in Koreans.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 399, doi. 10.1111/j.1399-0004.2009.01362.x

By:

Baek, J.-I.;
Cho, H.-J.;
Choi, S.-J.;
Kim, L.-S.;
Zhao, C.;
Sagong, B. R.;
Kim, U.-K.;
Jeong, S.-W.

Publication type:

Article

SCN9A: another sodium channel excited to play a role in human epilepsies.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 326, doi. 10.1111/j.1399-0004.2009.01366_1.x

By:

Doty, C. N.

Publication type:

Article

Taking a SUMO off a TRP for bad conduct.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 328, doi. 10.1111/j.1399-0004.2009.01366_2.x

By:

Pouladi, M. A.

Publication type:

Article

Genome-wide association studies identify new interesting loci for late-onset Alzheimer's disease.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 330, doi. 10.1111/j.1399-0004.2009.01366_3.x

By:

Skotte, N.

Publication type:

Article

microRNAs in diseases: from candidate to modifier genes.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 306, doi. 10.1111/j.1399-0004.2010.01370.x

By:

Bandiera, S.;
Hatem, E.;
Lyonnet, S.;
Henrion-Caude, A.

Publication type:

Article

Claudins: unlocking the code to tight junction function during embryogenesis and in disease.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 314, doi. 10.1111/j.1399-0004.2010.01397.x

By:

Gupta, I. R.;
Ryan, A. K.

Publication type:

Article