Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 6

Results: 14

STIL on my small brain: a new gene for microcephaly.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 501, doi. 10.1111/j.1399-0004.2009.01297.x

By:

Kumar, R. A.

Publication type:

Article

Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 503, doi. 10.1111/j.1399-0004.2009.01274.x

By:

Silveira, E. L.;
Elnecave, R. H.;
dos Santos, E. P.;
Moura, V.;
Pinto, E. M.;
van der Linden Nader, I.;
Mendonca, B. B.;
Bachega, T. A. S. S.

Publication type:

Article

Phenotype and genotype in females with POU3F4 mutations.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 558, doi. 10.1111/j.1399-0004.2009.01215.x

By:

Marlin, S.;
Moizard, M. P.;
David, A.;
Chaissang, N.;
Raynaud, M.;
Jonard, L.;
Feldmann, D.;
Loundon, N.;
Denoyelle, F.;
Toutain, A.

Publication type:

Article

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 524, doi. 10.1111/j.1399-0004.2009.01233.x

By:

Nyström, A. M.;
Ekvall, S.;
Allanson, J.;
Edeby, C.;
Elinder, M.;
Holmström, G.;
Bondeson, M. L.;
Annerén, G.

Publication type:

Article

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 511, doi. 10.1111/j.1399-0004.2009.01237.x

By:

Lévesque, S.;
Dombrowski, C.;
Morel, M.-L.;
Rehel, R.;
Côté, J.-S.;
Bussières, J.;
Morgan, K.;
Rousseau, F.

Publication type:

Article

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 552, doi. 10.1111/j.1399-0004.2009.01242.x

By:

López-Garrido, M.-P.;
Campos-Mollo, E.;
Harto, M.-Á.;
Escribano, J.

Publication type:

Article

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 569, doi. 10.1111/j.1399-0004.2009.01244.x

By:

Faiyaz-Ul-Haque, M.;
Al-Jefri, A.;
Abalkhail, H. A.;
Toulimat, M.;
Al-Muallimi, M. A.;
Pulicat, M. S.;
Gaafar, A.;
Alaiya, A. A.;
Al-Dayel, F.;
Peltekova, I.;
Zaidi, S. H. E.

Publication type:

Article

General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 544, doi. 10.1111/j.1399-0004.2009.01245.x

By:

McCahon, D.;
Holder, R.;
Metcalfe, A.;
Clifford, S.;
Gill, P.;
Cole, T.;
Sleightholme, H. V.;
Wilson, S.

Publication type:

Article

Novel PORCN mutations in focal dermal hypoplasia.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 535, doi. 10.1111/j.1399-0004.2009.01248.x

By:

Froyen, G.;
Govaerts, K.;
van Esch, H.;
Verbeeck, J.;
Tuomi, M.-L.;
Heikkilä, H.;
Torniainen, S.;
Devriendt, K.;
Fryns, J.-P.;
Marynen, P.;
Järvel, I.;
Ala-Mello, S.

Publication type:

Article

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 564, doi. 10.1111/j.1399-0004.2009.01251.x

By:

Sambuughin, N.;
Capacchione, J.;
Blokhin, A.;
Bayarsaikhan, M.;
Bina, S.;
Muldoon, S.

Publication type:

Article

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 577, doi. 10.1111/j.1399-0004.2009.01252.x

By:

Moya-Quiles, M. R.;
Mondéjar-López, P.;
Pastor-Vivero, M. D.;
González-Gallego, I.;
Juan-Fita, M. J.;
Egea-Mellado, J. M.;
Carbonell, P.;
Casals, T.;
Fernández-Sánchez, A.;
Sánchez-Solís, M;
Glover, G.

Publication type:

Article

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 573, doi. 10.1111/j.1399-0004.2009.01262.x

By:

Borgatti, Renato;
Marelli, Susan;
Bernardini, Laura;
Novelli, Antonio;
Cavallini, Anna;
Tonelli, Alessandra;
Bassi, Maria Teresa;
Dallapiccola, Bruno

Publication type:

Article

Sex chromosome sequencing: X-citing findings in mental retardation.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 497, doi. 10.1111/j.1399-0004.2009.01295.x

By:

Kumar, R. A.

Publication type:

Article

Non-coding regulatory genetics of limb malformations.

Published in:

Clinical Genetics, 2009, v. 76, n. 6, p. 499, doi. 10.1111/j.1399-0004.2009.01296.x

By:

Kumar, R. A.

Publication type:

Article