Works matching IS 00099163 AND DT 2011 AND VI 79 AND IP 4

Results: 18

A specific subtype of Infantile Parkinsonism-dystonia identified.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 332, doi. 10.1111/j.1399-0004.2011.01633.x

By:

Fisher, E.

Publication type:

Article

Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 321, doi. 10.1111/j.1399-0004.2010.01622.x

By:

Hadley, D. W.;
Ashida, S.;
Jenkins, J. F.;
Calzone, K. A.;
Kirsch, I. R.;
Koehly, L. M.

Publication type:

Article

Erratum.

Published in:: 2011
Publication type:: Erratum

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 371, doi. 10.1111/j.1399-0004.2010.01465.x

By:

Albuisson, J.;
Isidor, B.;
Giraud, M.;
Pichon, O.;
Marsaud, T.;
David, A.;
Le Caignec, C.;
Bezieau, S.

Publication type:

Article

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 335, doi. 10.1111/j.1399-0004.2010.01596.x

By:

McDonald, J.;
Damjanovich, K.;
Millson, A.;
Wooderchak, W.;
Chibuk, J. M.;
Stevenson, D. A.;
Gedge, F.;
Bayrak-Toydemir, P.

Publication type:

Article

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 385, doi. 10.1111/j.1399-0004.2010.01457.x

By:

Drousiotou, A.;
DiMeo, I.;
Mineri, R.;
Georgiou, Th.;
Stylianidou, G.;
Tiranti, V.

Publication type:

Article

Response to Nucaro et al.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 396, doi. 10.1111/j.1399-0004.2010.01549.x

By:

Gau, S. S.-F.;
Chen, C.-H.

Publication type:

Article

Exploring the genetic origins of Treacher Collins syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 330, doi. 10.1111/j.1399-0004.2011.01632.x

By:

Fisher, E.

Publication type:

Article

Response to Palmirotta et al.: The frequency of the PRKCSH GAG trinucleotide repeat in PCLD patients.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 399, doi. 10.1111/j.1399-0004.2010.01537.x

By:

Waanders, E.;
Janssen, M. J.;
Drenth, J. P. H.

Publication type:

Article

Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy?

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 394, doi. 10.1111/j.1399-0004.2010.01548.x

By:

Nucaro, A.;
Pisano, T.;
Chillotti, I.;
Montaldo, C.;
Pruna, D.

Publication type:

Article

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 345, doi. 10.1111/j.1399-0004.2010.01480.x

By:

Maffé, A.;
Toschi, B.;
Circo, G.;
Giachino, D.;
Giglio, S.;
Rizzo, A.;
Carloni, A.;
Poletti, V.;
Tomassetti, S.;
Ginardi, C.;
Ungari, S.;
Genuardi, M.

Publication type:

Article

Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 329, doi. 10.1111/j.1399-0004.2011.01631.x

By:

Sutton, L. M.

Publication type:

Article

PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 397, doi. 10.1111/j.1399-0004.2010.01536.x

By:

Palmirotta, R.;
Guadagni, F.;
Savonarola, A.;
Ludovici, G.;
De Marchis, M. L.;
Palli, D.;
Falchetti, M.;
Ottini, L.

Publication type:

Article

Nature and nurture: the complex genetics of myopia and refractive error.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 301, doi. 10.1111/j.1399-0004.2010.01592.x

By:

Wojciechowski, R.

Publication type:

Article

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 363, doi. 10.1111/j.1399-0004.2010.01462.x

By:

Al-Owain, M.;
Kaya, N.;
Al-Zaidan, H.;
Al-Hashmi, N.;
Al-Bakheet, A.;
Al-Muhaizea, M.;
Chedrawi, A.;
Basran, R. K.;
Milunsky, A.

Publication type:

Article

Autism severity is associated with child and maternal MAOA genotypes.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 355, doi. 10.1111/j.1399-0004.2010.01471.x

By:

Cohen, I. L.;
Liu, X.;
Lewis, M. E. S.;
Chudley, A.;
Forster-Gibson, C.;
Gonzalez, M.;
Jenkins, E. C.;
Brown, W. T.;
Holden, J. J. A.

Publication type:

Article

Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 378, doi. 10.1111/j.1399-0004.2010.01483.x

By:

Lee, K.-E.;
Kang, H.-Y.;
Lee, S.-K.;
Yoo, S.-H.;
Lee, J.-C.;
Hwang, Y.-H.;
Nam, K. H.;
Kim, J.-S.;
Park, J.-C.;
Kim, J.-W.

Publication type:

Article

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 4, p. 391, doi. 10.1111/j.1399-0004.2010.01552.x

By:

Suphapeetiporn, K.;
Srichomthong, C.;
Shotelersuk, V.

Publication type:

Article