Works matching IS 00099163 AND DT 2008 AND VI 73 AND IP 6

Results: 13

The epigenetic origins of mental retardation.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 528, doi. 10.1111/j.1399-0004.2008.00979_1.x

By:

Grant, M. E.

Publication type:

Article

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 573, doi. 10.1111/j.1399-0004.2008.00999.x

By:

Defesche, J.C.;
Schuurman, E. J. M.;
Klaaijsen, L. N.;
Khoo, K. L.;
Wiegman, A.;
Stalenhoef, A. F.H.

Publication type:

Article

DNA methylation and mental retardation.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 531, doi. 10.1111/j.1399-0004.2008.00979_3.x

By:

Grant, M. E.

Publication type:

Article

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 566, doi. 10.1111/j.1399-0004.2008.01000.x

By:

Stuhrmann, M.;
Hennies, H. C.;
Bukhari, I. A.;
Brakensiek, K.;
N&a#x00FC;rnberg, G.;
Becker, C.;
Huebener, J.;
Miranda, M. C.;
Frye-Boukhriss, H.;
Knothe, S.;
Schmidtke, J.;
El-Harith, E.-HA

Publication type:

Article

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 554, doi. 10.1111/j.1399-0004.2008.01004.x

By:

Tekin, M.;
Akay, H. Öztürkmen;
Fitoz, S.;
Birnbaum, S.;
Cengiz, F. B.;
Sennaroğlu, L.;
İncesulu, A.;
Konuk, E. B. Yüksel;
Bayrak, A. Hasanefendioğlu;
Şentürk, S.;
Cebeci, İ;
Ütine, G. E.;
Tunçbilek, E.;
Nance, W. E.;
Duman, D.

Publication type:

Article

Genetic factors in congenital heart malformation.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 516, doi. 10.1111/j.1399-0004.2008.01009.x

By:

Andelfinger, G.

Publication type:

Article

The skeletal manifestations of the congenital disorders of glycosylation.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 507, doi. 10.1111/j.1399-0004.2008.01015.x

By:

Coman, D.;
Irving, M.;
Kannu, P.;
Jaeken, J.;
Savarirayan, R.

Publication type:

Article

Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 545, doi. 10.1111/j.1399-0004.2008.00998.x

By:

Yanaru-Fujisawa, R.;
Matsumoto, T.;
Ushijima, Y.;
Esaki, M.;
Hirahashi, M.;
Gushima, M.;
Yao, T.;
Nakabeppu, Y.;
Iida, M.

Publication type:

Article

Loss of dynamic histone regulation underlies mental retardation.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 530, doi. 10.1111/j.1399-0004.2008.00979_2.x

By:

Grant, M. E.

Publication type:

Article

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 535, doi. 10.1111/j.1399-0004.2008.00992.x

By:

Miyoshi, Y.;
Akagi, M.;
Agarwal, A. K.;
Namba, N.;
Kato-Nishimura, K.;
Mohri, I.;
Yamagata, M.;
Nakajima, S.;
Mushiake, S.;
Shima, M.;
Auchus, R. J.;
Taniike, M.;
Garg, A.;
Ozono, K.

Publication type:

Article

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.

Published in:

2008

By:

Sztriha, L.;
Panzeri, C.;
Kálmánchey, R.;
Szabó, N.;
Endreffy, E.;
Túria, S.;
C Baschirotto;
Bresolin, N.;
Vekerdy, Z.;
Bassi, M. T.

Publication type:

Letter

Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion.

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 585, doi. 10.1111/j.1399-0004.2008.00995.x

By:

Fang, J.-S.;
Lee, K.-F.;
Huang, C.-T.;
Syu, C.-L.;
Yang, K.-J.;
Wang, L.-H.;
Liao, D.-L.;
Chen, C.-H.

Publication type:

Article

Mowat–Wilson syndrome: an underdiagnosed syndrome?

Published in:

Clinical Genetics, 2008, v. 73, n. 6, p. 579, doi. 10.1111/j.1399-0004.2008.00997.x

By:

Engenheiro, E.;
Møller, R. S.;
Pinto, M.;
Soares, G.;
Nikanorova, M.;
Carreira, I. M.;
Ullmann, R.;
Tommerup, N.;
Tümer, Z.

Publication type:

Article