Works matching IS 00099163 AND DT 2011 AND VI 79 AND IP 1

Results: 15

Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 86, doi. 10.1111/j.1399-0004.2010.01440.x

By:

Xin, B.;
Wang, H.

Publication type:

Article

Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 23, doi. 10.1111/j.1399-0004.2010.01591.x

By:

Merner, N. D.;
Dion, P. A.;
Rouleau, G. A.

Publication type:

Article

TMEM216 joins its ciliary cousins in ciliopathies.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 45, doi. 10.1111/j.1399-0004.2010.01556_2.x

By:

Wang, A. Y.

Publication type:

Article

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 1, doi. 10.1111/j.1399-0004.2010.01453.x

By:

Mukherjee, S.;
Zakalik, D.

Publication type:

Article

Novel mutations of wolframin: a report with a look at the protein structure.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 96, doi. 10.1111/j.1399-0004.2010.01511.x

By:

Alimadadi, A.;
Ebrahim-Habibi, A.;
Abbasi, F.;
Amoli, M. M.;
Sayahpour, F.-A.;
Larijani, B.

Publication type:

Article

Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 35, doi. 10.1111/j.1399-0004.2010.01534.x

By:

Gjone, H.;
Diseth, T. H.;
Fausa, O.;
Nøvik, T. S.;
Heiberg, A.

Publication type:

Article

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 71, doi. 10.1111/j.1399-0004.2010.01438.x

By:

Gijsbers, A. C. J.;
Den Hollander, N. S.;
Helderman-van de Enden, A. T. J. M.;
Schuurs-Hoeijmakers, J. H. M.;
Vijfhuizen, L.;
Bijlsma, E. K.;
Van Haeringen, A.;
Hansson, K. B. M.;
Bakker, E.;
Breuning, M. H.;
Ruivenkamp, C. A. L.

Publication type:

Article

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 49, doi. 10.1111/j.1399-0004.2010.01486.x

By:

Smit, D. L.;
Mensenkamp, A. R.;
Badeloe, S.;
Breuning, M. H.;
Simon, M. E. H.;
Van Spaendonck, K. Y.;
Aalfs, C. M.;
Post, J. G.;
Shanley, S.;
Krapels, I. P. C.;
Hoefsloot, L. H.;
Van Moorselaar, R. J. A.;
Starink, T. M.;
Bayley, J.-P.;
Frank, J.;
Van Steensel, M. A. M.;
Menko, F. H.

Publication type:

Article

Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 44, doi. 10.1111/j.1399-0004.2010.01556_1.x

By:

Schulze, J. M.

Publication type:

Article

Mendelian susceptibility to mycobacterial disease.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 17, doi. 10.1111/j.1399-0004.2010.01510.x

By:

Cottle, L. E.

Publication type:

Article

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 100, doi. 10.1111/j.1399-0004.2010.01508.x

By:

Emmel, V. E.;
Alonso, I.;
Jardim, L. B.;
Saraiva-Pereira, M. L.;
Sequeiros, J.

Publication type:

Article

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 92, doi. 10.1111/j.1399-0004.2010.01513.x

By:

Castori, M.;
Castiglia, D.;
Brancati, F.;
Foglio, M.;
Heath, S.;
Floriddia, G.;
Madonna, S.;
Fischer, J.;
Zambruno, G.

Publication type:

Article

Cognitive deficits in Down syndrome: narrowing 'Down' to Olig1 and Olig2.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 47, doi. 10.1111/j.1399-0004.2010.01556_3.x

By:

Wong, B. K. Y.

Publication type:

Article

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 79, doi. 10.1111/j.1399-0004.2010.01590.x

By:

Filges, I.;
Röthlisberger, B.;
Blattner, A.;
Boesch, N.;
Demougin, P.;
Wenzel, F.;
Huber, A. R.;
Heinimann, K.;
Weber, P.;
Miny, P.

Publication type:

Article

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 60, doi. 10.1111/j.1399-0004.2010.01498.x

By:

Shaheen, R.;
Al-Dirbashi, O. Y.;
Al-Hassnan, Z. N.;
Al-Owain, M.;
Makhsheed, N.;
Basheeri, F.;
Seidahmed, M. Z.;
Salih, M. A. M.;
Faqih, E.;
Zaidan, H.;
Al-Sayed, M.;
Rahbeeni, Z.;
Al-Sheddi, T.;
Hashem, M.;
Kurdi, W.;
Shimozawa, N.;
Alkuraya, F. S.

Publication type:

Article