Works matching IS 00099163 AND DT 2007 AND VI 72 AND IP 4

Results: 18

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 339, doi. 10.1111/j.1399-0004.2007.00833.x

By:

Wagatsuma, M.;
Kitoh, R.;
Suzuki, H.;
Fukuoka, H.;
Takumi, Y.;
Usami, S.

Publication type:

Article

Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor ( FGFR)-2 gene.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 305, doi. 10.1111/j.1399-0004.2007.00861.x

By:

Schulz, C.;
Kreß, W.;
Schömig, A.;
Wessely, R.

Publication type:

Article

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 271, doi. 10.1111/j.1399-0004.2007.00847.x

By:

Zahir, F.;
Friedman, J. M.

Publication type:

Article

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.

Published in:

2007

By:

Girardet, A.;
Guittard, C.;
Altieri, J.-P.;
Templin, C.;
Stremler, N.;
Beroud, C.;
des Georges, M.;
Claustres, M.

Publication type:

Letter

Movement and mood disorder in two brothers with Gaucher disease.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 357, doi. 10.1111/j.1399-0004.2007.00863.x

By:

Raja, M.;
Azzoni, A.;
Giona, F.;
Regis, S.;
Grossi, S.;
Filocamo, M.;
Sidransky, E.

Publication type:

Article

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 351, doi. 10.1111/j.1399-0004.2007.00848.x

By:

Özgül, R. K.;
Satman, I.;
Collin, G. B.;
Hinman, E. G.;
Marshall, J. D.;
Kocaman, O.;
Tütünc, Y.;
Yılmaz, T.;
Naggert, J. K.

Publication type:

Article

The genetics of mitral valve prolapse.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 288, doi. 10.1111/j.1399-0004.2007.00865.x

By:

Grau, J. B.;
Pirelli, L.;
Yu, P.-J.;
Galloway, A. C.;
Ostrer, H.

Publication type:

Article

Gene dosage influences the age at onset of SCA2 in a family from southern Italy.

Published in:

2007

By:

Spadafora, P.;
Annesi, G.;
Liguori, M.;
Tarantino, P.;
Cutuli, N.;
Carrideo, S.;
Ciròcandiano, I. C.;
De Marco, E. V.;
Civitelli, D.;
Annesi, F.;
Giuffrida, S.;
Quattrone, A.

Publication type:

Letter

Non-random maternal X-chromosome inactivation associated with PHACES.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 345, doi. 10.1111/j.1399-0004.2007.00851.x

By:

Levin, J. H.;
Kaler, S. G.

Publication type:

Article

Mosaic paternally derived inv dup(15) may partially rescue the Prader–Willi syndrome phenotype with uniparental disomy.

Published in:

2007

By:

Saitoha, S.;
Hosokia, K.;
Takanoa, K.;
Tonoki, H.

Publication type:

Letter

Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 369, doi. 10.1111/j.1399-0004.2007.00870.x

By:

Swanepoel, D.

Publication type:

Article

Insights into the genetics of severe congenital neutropenia.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 308, doi. 10.1111/j.1399-0004.2007.00872.x

By:

Stein, R. A.

Publication type:

Article

Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert’s syndrome in Taiwanese adults.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 321, doi. 10.1111/j.1399-0004.2007.00873.x

By:

Teng, H.-C.;
Huang, M.-J.;
Tang, K.-S.;
Yang, S.-S.;
Tseng, C.-S.;
Huang, C.-S.

Publication type:

Article

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 311, doi. 10.1111/j.1399-0004.2007.00866.x

By:

Hartikainen, J. M.;
Kataja, V.;
Pirskanen, M.;
Arffman, A.;
Ristonmaa, U.;
Vahteristo, P.;
Ryynänen, M.;
Heinonen, S.;
Kosma, V.-M.;
Mannermaa, A.

Publication type:

Article

Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

Published in:

2007

By:

Romanellia, V.;
Arroyob, I.;
Rodrigueza, J. I.;
Maganoa, L.;
Ariasa, P.;
Inceraa, I.;
Gracia-Bouthelier, R.;
Lapunzina, P.

Publication type:

Letter

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 329, doi. 10.1111/j.1399-0004.2007.00876.x

By:

Kang, S.-H. L.;
Scheffer, A.;
Ou, Z.;
Li, J.;
Scaglia, F.;
Belmont, J.;
Lalani, S. R.;
Roeder, E.;
Enciso, V.;
Braddock, S.;
Buchholz, J.;
Vacha, S.;
Chinault, A. C.;
Cheung, S. W.;
Bacino, C. A.

Publication type:

Article

Pure subtelomeric microduplications as a cause of mental retardation.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 362, doi. 10.1111/j.1399-0004.2007.00874.x

By:

Ruiter, E. M.;
Koolen, D. A.;
Kleefstra, T.;
Nillesen, W. M.;
Pfundt, R.;
de Leeuw, N.;
Hamel, B. C. J.;
Brunner, H. G.;
Sistermans, E. A.;
de Vries, B. B. A.

Publication type:

Article

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.

Published in:

Clinical Genetics, 2007, v. 72, n. 4, p. 296, doi. 10.1111/j.1399-0004.2007.00888.x

By:

Wynshaw-Boris, A.

Publication type:

Article