Works matching IS 00099163 AND DT 2006 AND VI 69 AND IP 3

Results: 18

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 234, doi. 10.1111/j.1399-0004.2006.00569.x

By:

Shashi, V.;
Keshavan, M. S.;
Howard, T. D.;
Berry, M. N.;
Basehore, M. J.;
Lewandowski, E.;
Kwapil, T. R.

Publication type:

Article

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 228, doi. 10.1111/j.1399-0004.2006.00567.x

By:

Palomares, M.;
Delicado, A.;
Lapunzina, P.;
Arjona, D.;
Amiñoso, C.;
Arcas, J.;
Martinez Bermejo, A.;
Fernández, L.;
López Pajares, I.

Publication type:

Article

A break near SLITRK1: A breakthrough in Tourette syndrome.

Published in:

2006

By:

Geddes, M. R.

Publication type:

Other

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 239, doi. 10.1111/j.1399-0004.2006.00574.x

By:

Wehner, L. -E.;
Folz, B. J.;
Argyriou, L.;
Twelkemeyer, S.;
Teske, U.;
Geisthoff, U. W.;
Werner, J. A.;
Engel, W.;
Nayernia, K.

Publication type:

Article

Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.

Published in:

2006

By:

Gregor, Anita

Publication type:

Letter

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 246, doi. 10.1111/j.1399-0004.2006.00576.x

By:

Stevenson, D. A.;
Viskochil, D. H.;
Rope, A. F.;
Carey, J. C.

Publication type:

Article

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 254, doi. 10.1111/j.1399-0004.2006.00577.x

By:

Marroni, F.;
Pastrello, C.;
Benatti, P.;
Torrini, M.;
Barana, D.;
Cordisco, E. L.;
Viel, A.;
Mareni, C.;
Oliani, C.;
Genuardi, M.;
Bailey-Wilson, J. E.;
Ponz de Leon, M.;
Presciuttini, S.

Publication type:

Article

A questionnaire study for 128 patients with Gaucher disease.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 209, doi. 10.1111/j.1399-0004.2006.00573.x

By:

Mankin, H. J.;
Trahan, C. A.;
Barnett, N. A.;
Laughead, J.;
Bove, C. M.;
Pastores, G. M.

Publication type:

Article

Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 263, doi. 10.1111/j.1399-0004.2006.00578.x

By:

Boekholdt, S. M.;
Souverein, O. W.;
Tanck, M. W. T.;
Hovingh, G. K.;
Kuivenhoven, J. A.;
Peters, R. I. G.;
Jansen, H.;
Schiffers, P. M. H.;
van der Wall, E. E.;
Doevendans, P. A.;
Reitsma, P. H.;
Zwinderman, A. H.;
Kastelein, J. J. P.;
Jukema, J. W.

Publication type:

Article

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.

Published in:

2006

By:

Malaspina, Patrizia

Publication type:

Letter

Pregnancy-associated plasma protein A, free human chorionic gonadotrophin and nuchal translucency as predictors of miscarriage.

Published in:

2006

By:

Heinonen, Seppo

Publication type:

Letter

The first characterization of homozygous HOX gene mutation in humans.

Published in:

2006

By:

Coburn, B.

Publication type:

Other

HMLH1 and HMSH2 germline mutations in Greek families with hereditary non-polyposis colorectal cancer.

Published in:: 2006
Publication type:: Letter

Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 199, doi. 10.1111/j.1399-0004.2006.00581.x

By:

Pullman, D.;
Hodgkinson, K.

Publication type:

Article

Transglutaminase 5 mutations result in Acral Peeling Skin Syndrome.

Published in:

2006

By:

Coburn, B.

Publication type:

Other

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 277, doi. 10.1111/j.1399-0004.2006.00585.x

By:

Brusgaard, K.;
Jordan, P.;
Hansen, H.;
Hansen, A. B.;
Hørder, M.

Publication type:

Article

Comparative transcriptome maps: a new approach to the diagnosis of colorectal carcinoma patients using cDNA microarrays.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 218, doi. 10.1111/j.1399-0004.2006.00588.x

By:

Jansov, E.;
Koutn, I.;
Krontorád, P.;
Svoboda, Z.;
Křivánkov, S.;
Žaloudík, J.;
Kozubek, M.;
Kozubek, S.

Publication type:

Article

A novel homozygous MMP2 mutation in a family with Winchester syndrome.

Published in:

Clinical Genetics, 2006, v. 69, n. 3, p. 271, doi. 10.1111/j.1399-0004.2006.00584.x

By:

Rouzier, C.;
Vanatka, R.;
Bannwarth, S.;
Philip, N.;
Coussement, A.;
Paquis-Flucklinger, V.;
Lambert, J.-C.

Publication type:

Article