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

Results: 18

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
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
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
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
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
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
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
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
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
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
Erratum.
Published in:
2011
Publication type:
Erratum
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
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
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
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
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
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
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