Works matching IS 00099163 AND DT 2007 AND VI 72 AND IP 2

Results: 17

Fidelity of whole-genome amplification of blood spot DNA for HLA typing and SNP analyses.

Published in:

2007

By:

Singh, K. K.;
Spector, S. A.

Publication type:

Letter

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 112, doi. 10.1111/j.1399-0004.2007.00821.x

By:

Delahaye, A.;
Sznajer, Y.;
Lyonnet, S.;
Elmaleh-Bergès, M.;
Delpierre, I.;
Audollent, S.;
Wiener-Vacher, S.;
Mansbach, A.-L.;
Amiel, J.;
Baumann, C.;
Bremond-Gignac, D.;
Attié-Bitach, T.;
Verloes, A.;
Sanlaville, D.

Publication type:

Article

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 122, doi. 10.1111/j.1399-0004.2007.00827.x

By:

Hes, F. J.;
van der Luijt, R. B.;
Janssen, A. L. W.;
Zewald, R. A.;
de Jong, G. J.;
Lenders, J. W.;
Links, T. P.;
Luyten, G. P. M.;
Sijmons, R. H.;
Eussen, H. J.;
Halley, D. J. J.;
Lips, C. J. M.;
Pearson, P. L.;
van den Ouweland, A. M. W.;
Majoor-Krakauer, D. F.

Publication type:

Article

Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 130, doi. 10.1111/j.1399-0004.2007.00828.x

By:

Meyer, N. C.;
Nishimura, C. J.;
McMordie, S.;
Smith, R. J. H.

Publication type:

Article

Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 138, doi. 10.1111/j.1399-0004.2007.00829.x

By:

Govaerts, L. C. P.;
Smit, A. E.;
Saris, J. J.;
VanderWerf, F.;
Willemsen, R.;
Bakker, C. E.;
De Zeeuw, C. I.;
Oostra, B. A.

Publication type:

Article

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 98, doi. 10.1111/j.1399-0004.2007.00832.x

By:

Selicorni, A.;
Russo, S.;
Gervasini, C.;
Castronovo, P.;
Milani, D.;
Cavalleri, F.;
Bentivegna, A.;
Masciadri, M.;
Domi, A.;
Divizia, M. T.;
Sforzini, C.;
Tarantino, E.;
Memo, L.;
Scarano, G.;
Larizza, L.

Publication type:

Article

A comparison of counselee and counselor satisfaction in reproductive genetic counseling.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 74, doi. 10.1111/j.1399-0004.2007.00834.x

By:

Aalfs, C. M.;
Oort, F. J.;
de Haes, J. C. J. M.;
Leschot, N. J.;
Smets, E. M. A.

Publication type:

Article

Sweet successes in diabetes genetics.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 83, doi. 10.1111/j.1399-0004.2007.00835.x

By:

Clee, S. M.

Publication type:

Article

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 145, doi. 10.1111/j.1399-0004.2007.00836.x

By:

Koivisto, A. M.;
Ala-Mello, S.;
Lemmelä, S.;
Komu, H. A.;
Rautio, J.;
Järvelä, I.

Publication type:

Article

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

Published in:

2007

By:

Cohen, I. J.

Publication type:

Letter

Response to Cohen.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 161, doi. 10.1111/j.1399-0004.2007.00838.x

By:

Charrow, J.;
Dulisse, B.;
Grabowski, G. A.;
Weinreb, N. J.

Publication type:

Article

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 150, doi. 10.1111/j.1399-0004.2007.00839.x

By:

Lee, S.-T.;
Ki, C.-S.;
Lee, H. J.

Publication type:

Article

Transmission of familial Mediterranean fever mutations following bone marrow transplantation.

Published in:

2007

By:

Touitou, I.;
Dumont, B.;
Pourtein, M.;
Perelman, S.;
Sirvent, A.;
Soler, C.

Publication type:

Letter

The importance of the fetal origins of adult disease for geneticists.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 67, doi. 10.1111/j.1399-0004.2007.00842.x

By:

Hall, J. G.

Publication type:

Article

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 109, doi. 10.1111/j.1399-0004.2007.00843.x

By:

Gort, L.;
Santamaria, R.;
Grinberg, D.;
Vilageliu, L.;
Chabás, A.

Publication type:

Article

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Published in:

2007

By:

Faiyaz-Ul-Haque, M.;
Zaidi, S. H. E.;
Al-Mureikhi, M. S.;
Peltekova, I.;
Tsui, L.-C.;
Teebi, A. S.

Publication type:

Letter

Validation study of thelambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 87, doi. 10.1111/j.1399-0004.2007.00841.x

By:

Apicella, C.;
Dowty, J. G.;
Dite, G. S.;
Jenkins, M. A.;
Senie, R. T.;
Daly, M. B.;
Andrulis, I. L.;
John, E. M.;
Buys, S. S.;
Li, F. P.;
Glendon, G.;
Chung, W.;
Ozcelik, H.;
Miron, A.;
Kotar, K.;
Southey, M. C.;
Foulkes, W. D.;
Hopper, J. L.

Publication type:

Article