Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 6

Results: 17

Polycystin-1: a key player in hereditary cystic kidney and liver disorders.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 507, doi. 10.1111/j.1399-0004.2011.01780.x

By:

Skotte, NH

Publication type:

Article

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 523, doi. 10.1111/j.1399-0004.2011.01688.x

By:

Bennouna-Greene, V;
Kremer, S;
Stoetzel, C;
Christmann, D;
Schuster, C;
Durand, M;
Verloes, A;
Sigaudy, S;
Holder-Espinasse, M;
Godet, J;
Brandt, C;
Marion, V;
Danion, A;
Dietemann, J-L;
Dollfus, H

Publication type:

Article

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 591, doi. 10.1111/j.1399-0004.2011.01710.x

By:

Guida, V;
Chiappe, F;
Ferese, R;
Usala, G;
Maestrale, G;
Iannascoli, C;
Bellacchio, E;
Mingarelli, R;
Digilio, MC;
Marino, B;
Uda, M;
De Luca, A;
Dallapiccola, B

Publication type:

Article

Huntington's disease in Greece: the experience of 14 years.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 586, doi. 10.1111/j.1399-0004.2010.01603.x

By:

Panas, M;
Karadima, G;
Vassos, E;
Kalfakis, N;
Kladi, A;
Christodoulou, K;
Vassilopoulos, D

Publication type:

Article

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 558, doi. 10.1111/j.1399-0004.2010.01608.x

By:

Leenen, CHM;
Geurts-Giele, WRR;
Dubbink, HJ;
Reddingius, R;
van den Ouweland, AM;
Tops, CMJ;
van de Klift, HM;
Kuipers, EJ;
van Leerdam, ME;
Dinjens, WNM;
Wagner, A

Publication type:

Article

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 550, doi. 10.1111/j.1399-0004.2010.01595.x

By:

Barbosa, M;
Sousa, AB;
Medeira, A;
Lourenço, T;
Saraiva, J;
Pinto-Basto, J;
Soares, G;
Fortuna, AM;
Superti-Furga, A;
Mittaz, L;
Reis-Lima, M;
Bonafé, L

Publication type:

Article

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 532, doi. 10.1111/j.1399-0004.2011.01686.x

By:

Bhat, V;
Girimaji, SC;
Mohan, G;
Arvinda, HR;
Singhmar, P;
Duvvari, MR;
Kumar, A

Publication type:

Article

Bone resorption in syndromes of the Ras/MAPK pathway.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 566, doi. 10.1111/j.1399-0004.2010.01619.x

By:

Stevenson, DA;
Schwarz, EL;
Carey, JC;
Viskochil, DH;
Hanson, H;
Bauer, S;
Cindy Weng, H-Y;
Greene, T;
Reinker, K;
Swensen, J;
Chan, RJ;
Yang, F-C;
Senbanjo, L;
Yang, Z;
Mao, R;
Pasquali, M

Publication type:

Article

Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 506, doi. 10.1111/j.1399-0004.2011.01779.x

By:

Ladha, S

Publication type:

Article

Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01577.x

By:

Anuradha, S;
Radha, V;
Mohan, V

Publication type:

Article

Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 600, doi. 10.1111/j.1399-0004.2011.01711.x

By:

Takano, K;
Tan, W-H;
Irons, MB;
Jones, JR;
Schwartz, CE

Publication type:

Article

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 581, doi. 10.1111/j.1399-0004.2010.01588.x

By:

Negrisolo, S;
Benetti, E;
Centi, S;
Della Vella, M;
Ghirardo, G;
Zanon, GF;
Murer, L;
Artifoni, L

Publication type:

Article

A GPHN point mutation leading to molybdenum cofactor deficiency.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 598, doi. 10.1111/j.1399-0004.2011.01709.x

By:

Reiss, J;
Lenz, U;
Aquaviva-Bourdain, C;
Joriot-Chekaf, S;
Mention-Mulliez, K;
Holder-Espinasse, M

Publication type:

Article

Diagnostic accuracy of non-invasive prenatal sex determination: a large-scale study.

Published in:

2011

By:

Centra, M;
Picchiassi, E;
Bini, V;
Tarquini, F;
Pennacchi, L;
Koutras, I;
Di Renzo, GC;
Coata, G

Publication type:

Letter

Screening and cell-based assessment of mutations in the Aristaless-related homeobox ( ARX) gene.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 510, doi. 10.1111/j.1399-0004.2011.01685.x

By:

Fullston, T;
Finnis, M;
Hackett, A;
Hodgson, B;
Brueton, L;
Baynam, G;
Norman, A;
Reish, O;
Shoubridge, C;
Gecz, J

Publication type:

Article

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP ( ZNF9) gene.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 574, doi. 10.1111/j.1399-0004.2010.01616.x

By:

Sun, C;
Van Ghelue, M;
Tranebjærg, L;
Thyssen, F;
Nilssen, Ø;
Torbergsen, T

Publication type:

Article

Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 505, doi. 10.1111/j.1399-0004.2011.01761.x

By:

Kay, C

Publication type:

Article