Works matching IS 00099163 AND DT 2011 AND VI 79 AND IP 6

Results: 18

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 568, doi. 10.1111/j.1399-0004.2010.01494.x

By:

Sheikhzadeh, S.;
Rybczynski, M.;
Habermann, C. R.;
Bernhardt, A. M. J.;
Arslan-Kirchner, M.;
Keyser, B.;
Kaemmerer, H.;
Mir, T. S.;
Staebler, A.;
Oezdal, N.;
Robinson, P. N.;
Berger, J.;
Meinertz, T;
von Kodolitsch, Y

Publication type:

Article

Addendum to '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. 6, p. 601, doi. 10.1111/j.1399-0004.2011.01665.x

By:

Rouleau, G. A.

Publication type:

Article

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 582, doi. 10.1111/j.1399-0004.2010.01476.x

By:

Flanagan, S. E.;
Kapoor, R. R.;
Banerjee, I.;
Hall, C.;
Smith, V. V.;
Hussain, K.;
Ellard, S.

Publication type:

Article

Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 539, doi. 10.1111/j.1399-0004.2010.01464.x

By:

Sorrell, A. D.;
Lee, S.;
Stolle, C.;
Ellenhorn, J.;
Grix, A.;
Kaelin, W. G.;
Weitzel, J. N.

Publication type:

Article

The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 599, doi. 10.1111/j.1399-0004.2010.01597.x

By:

Seshadri, D.;
Jones, S.;
Burt, K.;
Lavery, L.;
Wraith, J. E.

Publication type:

Article

Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 588, doi. 10.1111/j.1399-0004.2010.01509.x

By:

Kumar, J.;
Yumnam, S.;
Basu, T.;
Ghosh, A.;
Garg, G.;
Karthikeyan, G.;
Sengupta, S.

Publication type:

Article

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 523, doi. 10.1111/j.1399-0004.2010.01501.x

By:

McCorquodale, D.S.;
Ozomaro, U.;
Huang, J.;
Montenegro, G.;
Kushman, A.;
Citrigno, L.;
Price, J.;
Speziani, F.;
Pericak-Vance, M.A.;
Züchner, S.

Publication type:

Article

Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 507, doi. 10.1111/j.1399-0004.2011.01662.x

By:

Wijesekara, N.

Publication type:

Article

DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 546, doi. 10.1111/j.1399-0004.2010.01482.x

By:

Tierling, S.;
Souren, N.Y.;
Reither, S.;
Zang, K.D.;
Meng-Hentschel, J.;
Leitner, D.;
Oehl-Jaschkowitz, B.;
Walter, J.

Publication type:

Article

Mad for SMAD: unraveling the genetics of a new aneurysm syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 510, doi. 10.1111/j.1399-0004.2011.01666.x

By:

Ladha, S.

Publication type:

Article

Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 531, doi. 10.1111/j.1399-0004.2010.01496.x

By:

El-Hattab, A. W.;
Bournat, J.;
Eng, P. A.;
Wu, J. B. S.;
Walker, B. A.;
Stankiewicz, P.;
Cheung, S. W.;
Brown, C. W.

Publication type:

Article

Clinical variability of genetic isolates of Cohen syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 501, doi. 10.1111/j.1399-0004.2011.01669.x

By:

Douzgou, S.;
Petersen, M. B.

Publication type:

Article

Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 554, doi. 10.1111/j.1399-0004.2010.01489.x

By:

Vilain, R. E.;
Dudding, T.;
Braye, S. G.;
Groombridge, C.;
Meldrum, C.;
Spigelman, A. D.;
Ackland, S.;
Ashman, L.;
Scott, R. J.

Publication type:

Article

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 512, doi. 10.1111/j.1399-0004.2010.01594.x

By:

Raskin, L.;
Schwenter, F.;
Freytsis, M.;
Tischkowitz, M.;
Wong, N.;
Chong, G.;
Narod, S. A.;
Levine, D. A..;
Bogomolniy, F.;
Aronson, M.;
Thibodeau, S. N.;
Hunt, K. S.;
Rennert, G.;
Gallinger, S.;
Gruber, S. B.;
Foulkes, W. D.

Publication type:

Article

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 575, doi. 10.1111/j.1399-0004.2011.01682.x

By:

Brunham, L. R.;
Tietjen, I.;
Bochem, A. E.;
Singaraja, R. R.;
Franchini, P. L.;
Radomski, C.;
Mattice, M.;
Legendre, A.;
Hovingh, G. K.;
Kastelein, J. J. P.;
Hayden, M. R.

Publication type:

Article

Novel mutations in the HPS1 gene among Puerto Rican patients.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 561, doi. 10.1111/j.1399-0004.2010.01491.x

By:

Carmona-Rivera, C.;
Hess, R. A.;
O'Brien, K.;
Golas, G.;
Tsilou, E.;
White, J. G.;
Gahl, W. A.;
Huizing, M.

Publication type:

Article

Fragile X syndrome therapy: to respond or not to respond may be a matter of methylation.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 508, doi. 10.1111/j.1399-0004.2011.01663.x

By:

Pouladi, M. A.

Publication type:

Article

DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment.

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 594, doi. 10.1111/j.1399-0004.2010.01593.x

By:

Tabatabaiefar, M. A.;
Alasti, F.;
Shariati, L.;
Farrokhi, E.;
Fransen, E.;
Nooridaloii, M. R.;
Chaleshtori, M. H.;
Van Camp, G.

Publication type:

Article