Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 4

Results: 15

Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 305, doi. 10.1111/j.1399-0004.2011.01724.x

By:

Agola, JO;
Jim, PA;
Ward, HH;
BasuRay, S;
Wandinger-Ness, A

Publication type:

Article

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 398, doi. 10.1111/j.1399-0004.2010.01620.x

By:

Krahn, M;
Goicoechea, M;
Hanisch, F;
Groen, E;
Bartoli, M;
Pécheux, C;
Garcia-Bragado, F;
Leturcq, F;
Jeannet, P-Y;
Lobrinus, JA;
Jacquemont, S;
Strober, J;
Urtizberea, JA;
Saenz, A;
Bushby, K;
Lévy, N;
Lopez de Munain, A

Publication type:

Article

Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 375, doi. 10.1111/j.1399-0004.2010.01532.x

By:

Pertesi, M;
Konstantopoulou, I;
Yannoukakos, D

Publication type:

Article

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 367, doi. 10.1111/j.1399-0004.2010.01525.x

By:

Canals, I;
Elalaoui, SC;
Pineda, M;
Delgadillo, V;
Szlago, M;
Jaouad, IC;
Sefiani, A;
Chabás, A;
Coll, MJ;
Grinberg, D;
Vilageliu, L

Publication type:

Article

How the brain folds: a new genetic mechanism involving a laminin gene.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 330, doi. 10.1111/j.1399-0004.2011.01759.x

By:

Kumar, RA

Publication type:

Article

Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 346, doi. 10.1111/j.1399-0004.2011.01646.x

By:

Radonic, T;
de Witte, P;
Groenink, M;
de Bruin-Bon, RACM;
Timmermans, J;
Scholte, AJH;
van den Berg, MP;
Baars, MJH;
van Tintelen, JP;
Kempers, M;
Zwinderman, AH;
Mulder, BJM

Publication type:

Article

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 394, doi. 10.1111/j.1399-0004.2010.01543.x

By:

Jasperson, KW;
Samowitz, WS;
Burt, RW

Publication type:

Article

Genetic basis for tooth malformations: from mice to men and back again.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 319, doi. 10.1111/j.1399-0004.2011.01762.x

By:

Mitsiadis, TA;
Luder, HU

Publication type:

Article

Successful pre-implantation genetic diagnosis for Hirschsprung disease.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 403, doi. 10.1111/j.1399-0004.2011.01634.x

By:

Burlet, P;
Steichen, C;
Hesters, L;
Gigarel, N;
Kerbrat, V;
Frydman, R;
Munnich, A;
Amiel, J;
Frydman, N;
Steffann, J

Publication type:

Article

Erratum.

Published in:: 2011
Publication type:: Erratum

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 383, doi. 10.1111/j.1399-0004.2010.01553.x

By:

Perdu, B;
Lakeman, P;
Mortier, G;
Koenig, R;
Lachmeijer, AMA;
Van Hul, W

Publication type:

Article

Frequent mutation in North African patients with MUTYH-associated polyposis.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 389, doi. 10.1111/j.1399-0004.2010.01528.x

By:

Lefevre, JH;
Colas, C;
Coulet, F;
Baert-Desurmont, S;
Mongin, C;
Tiret, E;
Frebourg, T;
Soubrier, F;
Parc, Y

Publication type:

Article

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 334, doi. 10.1111/j.1399-0004.2011.01640.x

By:

Laššuthová, P;
Mazanec, R;
Vondráček, P;
Šišková, D;
Haberlová, J;
Sabová, J;
Seeman, P

Publication type:

Article

Desmin-related myopathy.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 354, doi. 10.1111/j.1399-0004.2010.01512.x

By:

van Spaendonck-Zwarts, KY;
van Hessem, L;
Jongbloed, JDH;
de Walle, HEK;
Capetanaki, Y;
van der Kooi, AJ;
van Langen, IM;
van den Berg, MP;
van Tintelen, JP

Publication type:

Article

Autism, mutations, and the environment: insights from exome sequencing.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 331, doi. 10.1111/j.1399-0004.2011.01760.x

By:

Kumar, RA

Publication type:

Article