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

Results: 15

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
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
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
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
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
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
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
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
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
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
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
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
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
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