Works matching IS 00099163 AND DT 2010 AND VI 77 AND IP 1

Results: 15

Mutation screening in patients for familial hypercholesterolaemia (ADH).

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 97, doi. 10.1111/j.1399-0004.2009.01279.x

By:

Taylor, A.;
Patel, K.;
Tsedeke, J.;
Humphries, S. E.;
Norbury, G.

Publication type:

Article

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 79, doi. 10.1111/j.1399-0004.2009.01285.x

By:

Reinhardt, K.;
Grapp, M.;
Schlachter, K.;
Brück, W.;
Gärtner, J.;
Steinfeld, R

Publication type:

Article

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 92, doi. 10.1111/j.1399-0004.2009.01286.x

By:

C. Córdova-Fletes;
Rademacher, N.;
I. Müller;
Mundo-Ayala, J. N.;
Morales-Jeanhs, E. A.;
García-Ortiz, J. E.;
León-Gil, A.;
Rivera, H.;
Domínguez, M. G.;
Kalscheuer, V. M.

Publication type:

Article

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 60, doi. 10.1111/j.1399-0004.2009.01272.x

By:

Infante, M.;
Durán, M.;
Acedo, A.;
Pérez-Cabornero, L.;
Sanz, D. J.;
García-González, M.;
Beristain, E.;
Esteban-Cardeñosa, E.;
de la Hoya, M.;
Teulé, A.;
Vega, A.;
Tejada, M.-I.;
Lastra, E.;
Miner, C.;
Velasco, E. A.

Publication type:

Article

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 86, doi. 10.1111/j.1399-0004.2009.01249.x

By:

Hulsebos, T. J. M.;
Kenter, S. B.;
Jakobs, M. E.;
Baas, F.;
Chong, B.;
Delatycki, M. B.

Publication type:

Article

Surveillance in von Hippel-Lindau disease (vHL).

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 49, doi. 10.1111/j.1399-0004.2009.01281.x

By:

Poulsen, M. L. M.;
Budtz-Jørgensen, E.;
Bisgaard, M. L.

Publication type:

Article

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 70, doi. 10.1111/j.1399-0004.2009.01284.x

By:

López-Garrido, M.-P.;
Blanco-Marchite, C.;
Sánchez-Sánchez, F.;
López-Sánchez, E.;
Chaqués-Alepuz, V.;
Campos-Mollo, E.;
Salinas-Sánchez, A. S.;
Escribano, J.

Publication type:

Article

Large-scale sequencing to identify disease causing variants in X-linked mental retardation.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 35, doi. 10.1111/j.1399-0004.2009.01299.x

By:

Sanders, S. S.

Publication type:

Article

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 37, doi. 10.1111/j.1399-0004.2009.01282.x

By:

Barahona-Dussault, C.;
Benito, B.;
Campuzano, O.;
Iglesias, A.;
Leung, T. L.;
Robb, L.;
Talajic, M.;
Brugada, R.

Publication type:

Article

DCTN1 mutations are implicated in multiple neurodegenerative disorders.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 32, doi. 10.1111/j.1399-0004.2009.01300.x

By:

Uribe, V.

Publication type:

Article

Ciliary dysfunction and obesity.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 18, doi. 10.1111/j.1399-0004.2009.01305.x

By:

Mok, C. A.;
Héon, E.;
Zhen, M.

Publication type:

Article

The β-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 34, doi. 10.1111/j.1399-0004.2009.01301.x

By:

Uribe, V.

Publication type:

Article

Reproductive decision-making in the context of mitochondrial DNA disorders: views and experiences of professionals.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 10, doi. 10.1111/j.1399-0004.2009.01312.x

By:

Bredenoord, A. L.;
Krumeich, A.;
de Vries, M. C.;
Dondorp, W.;
de Wert, G.

Publication type:

Article

Public understandings of genetics and health.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 1, doi. 10.1111/j.1399-0004.2009.01316.x

By:

Condit, C. M.

Publication type:

Article

Eyebrow anomalies as a diagnostic sign of genomic disorders.

Published in:

Clinical Genetics, 2010, v. 77, n. 1, p. 28, doi. 10.1111/j.1399-0004.2009.01347.x

By:

Silengo, M.;
Belligni, E.;
Molinatto, C.;
Baldassare, G.;
Biamino, E.;
Chiesa, N.;
Zuffardi, O.;
Girirajan, S.;
Eichler, E. E.;
Ferrero, G. B.

Publication type:

Article