Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 4

Results: 17

Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 402, doi. 10.1111/j.1399-0004.2010.01437.x

By:

Izumi, K;
Culler, D;
Solomon, BD;
Muenke, M;
Parikh, AS

Publication type:

Article

Hippocampus development and function: role of epigenetic factors and implications for cognitive disease.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 321, doi. 10.1111/j.1399-0004.2010.01503.x

By:

Lagali, PS;
Corcoran, CP;
Picketts, DJ

Publication type:

Article

A novel link between Tourette's syndrome and histaminergic signalling.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 349, doi. 10.1111/j.1399-0004.2010.01506.x

By:

Mah, AK

Publication type:

Article

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 381, doi. 10.1111/j.1399-0004.2010.01388.x

By:

Sequeiros, J;
Ramos, EM;
Cerqueira, J;
Costa, MC;
Sousa, A;
Pinto-Basto, J;
Alonso, I

Publication type:

Article

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 388, doi. 10.1111/j.1399-0004.2010.01393.x

By:

Dad, S;
Østergaard, E;
Thykjær, T;
Albrectsen, A;
Ravn, K;
Rosenberg, T;
Møller, LB

Publication type:

Article

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 364, doi. 10.1111/j.1399-0004.2010.01473.x

By:

Bogdanova, NV;
Antonenkova, NN;
Rogov, YI;
Karstens, JH;
Hillemanns, P;
Dörk, T

Publication type:

Article

SLITRK5, a protein that links striatal deficits to OCD-like behaviours in mice.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 350, doi. 10.1111/j.1399-0004.2010.01507.x

By:

Mah, AK

Publication type:

Article

Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 398, doi. 10.1111/j.1399-0004.2010.01403.x

By:

Kharrat, M;
Trabelsi, S;
Chaabouni, M;
Maazoul, F;
Kraoua, L;
Ben Jemaa, L;
Gandoura, N;
Barsaoui, S;
Morel, Y;
M’rad, R;
Chaabouni, H

Publication type:

Article

The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 373, doi. 10.1111/j.1399-0004.2010.01404.x

By:

Elsakov, P;
Kurtinaitis, J;
Petraitis, S;
Ostapenko, V;
Razumas, M;
Razumas, T;
Meskauskas, R;
Petrulis, K;
Luksite, A;
Lubiński, J;
Górski, B;
Narod, SA;
Gronwald, J

Publication type:

Article

The contribution of founder mutations in BRCA1 to breast cancer in Belarus.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 377, doi. 10.1111/j.1399-0004.2010.01439.x

By:

Uglanitsa, N;
Oszurek, O;
Uglanitsa, K;
Savonievich, E;
Lubiński, J;
Cybulski, C;
Debniak, T;
Narod, SA;
Gronwald, J

Publication type:

Article

SET(BP1)-ing the stage for a better understanding of Schinzel—Giedion syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 348, doi. 10.1111/j.1399-0004.2010.01505.x

By:

Taubert, S

Publication type:

Article

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 299, doi. 10.1111/j.1399-0004.2010.01445.x

By:

Kurahashi, H;
Inagaki, H;
Ohye, T;
Kogo, H;
Tsutsumi, M;
Kato, T;
Tong, M;
Emanuel, BS

Publication type:

Article

Large genomic rearrangements in mutation-negative BRCA families: a population-based study.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 405, doi. 10.1111/j.1399-0004.2010.01463.x

By:

Rodríguez, Marta;
Torres, Asuncion;
Borràs, Joan;
Salvat, Mònica;
Gum, Josep

Publication type:

Article

Revealing the human mutome.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 310, doi. 10.1111/j.1399-0004.2010.01474.x

By:

Chen, JM;
Férec, C;
Cooper, DN

Publication type:

Article

MUTYH-associated polyposis – variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 353, doi. 10.1111/j.1399-0004.2010.01478.x

By:

Morak, M;
Laner, A;
Bacher, U;
Keiling, C;
Holinski-Feder, E

Publication type:

Article

Hermann Friedberg's case report: an early description of CLOVES syndrome.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 342, doi. 10.1111/j.1399-0004.2010.01479.x

By:

Alomari, AI;
Thiex, R;
Mulliken, JB

Publication type:

Article

Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma.

Published in:

Clinical Genetics, 2010, v. 78, n. 4, p. 334, doi. 10.1111/j.1399-0004.2010.01484.x

By:

Dommering, CJ;
van den Heuvel, MR;
Moll, AC;
Imhof, SM;
Meijers-Heijboer, H;
Henneman, L

Publication type:

Article