Works matching IS 00099163 AND DT 2009 AND VI 75 AND IP 2

Results: 21

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 195, doi. 10.1111/j.1399-0004.2008.01074.x

By:

Orrico, A.;
Galli, L.;
Buoni, S.;
Orsi, A.;
Vonella, G.;
Sorrentino, V.

Publication type:

Article

Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 157, doi. 10.1111/j.1399-0004.2008.01079.x

By:

Kedar, P.;
Hamada, T.;
Warang, P.;
Nadkarni, A.;
Shimizu, K.;
Fujji, H.;
Ghosh, K.;
Kanno, H.;
Colah, R.

Publication type:

Article

Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.

Published in:

2009

By:

Derwińska, K.;
Bernaciak, J.;
Wiśniowiecka-Kowalnik, B.;
Obersztyn, E.;
Bocian, E.;
Stankiewicz, P.

Publication type:

Letter

Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 163, doi. 10.1111/j.1399-0004.2008.01097.x

By:

Olsson, M.;
Hellman, U.;
Planté-Bordeneuve, V.;
Jonasson, J.;
Lång, K.;
Suhr, O. B.

Publication type:

Article

Finding genes underlying human disease.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 101, doi. 10.1111/j.1399-0004.2008.01083.x

By:

Stein, C. M.;
Elston, R. C.

Publication type:

Article

Huntington’s disease-like 2 and apparent ancestry.

Published in:

2009

By:

Rodrigues, G. G. R.;
Teive, H. A. G.;
Tumas, V.

Publication type:

Letter

Response to Tumas et al.

Published in:

2009

By:

Sequeiros, J.;
Santos, C.;
Jardim, Laura B.

Publication type:

Letter

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 185, doi. 10.1111/j.1399-0004.2008.01100.x

By:

Schrader, K. A.;
Nelson, T. N.;
De Luca, A.;
Huntsman, D. G.;
McGillivray, B. C.

Publication type:

Article

Cystic kidney diseases and planar cell polarity signaling.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 107, doi. 10.1111/j.1399-0004.2008.01148.x

By:

Bacallao, R. L.;
McNeill, H.

Publication type:

Article

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 190, doi. 10.1111/j.1399-0004.2008.01085.x

By:

Lee, K. A.;
Williams, B.;
Roza, K.;
Ferguson, H.;
David, K.;
Eddleman, K.;
Stone, J.;
Edelmann, L.;
Richard, G.;
Gelb, B. D.;
Kornreich, R.

Publication type:

Article

Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 169, doi. 10.1111/j.1399-0004.2008.01101.x

By:

Sharman, R.;
Sullivan, K.;
Young, R.;
McGill, J.

Publication type:

Article

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 180, doi. 10.1111/j.1399-0004.2008.01110.x

By:

Freeman, S. B.;
Torfs, C. P.;
Romitti, P. A.;
Royle, M. H.;
Druschel, C.;
Hobbs, C. A.;
Sherman, S. L.

Publication type:

Article

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.

Published in:

2009

By:

Michel-Calemard, L.;
Dijoud, F.;
Till, M.;
Lambert, J. C.;
Vercherat, M.;
Tardya, V.;
Coubes, C.;
Morel, Y.

Publication type:

Letter

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 175, doi. 10.1111/j.1399-0004.2008.01113.x

By:

Bisgaard, A.-M.;
Kirchhoff, M.;
Nielsen, J. E.;
Kibæk, M.;
Lund, A.;
Schwartz, M.;
Christensen, E.

Publication type:

Article

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 ( FGFR3) in Portugal.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 150, doi. 10.1111/j.1399-0004.2008.01123.x

By:

Almeida, M. R.;
Campos-Xavier, A. B.;
Medeira, A.;
Cordeiro, I.;
Sousa, A. B.;
Lima, M.;
Soares, G.;
Rocha, M.;
Saraiva, J.;
Ramos, L.;
Sousa, S.;
Marcelino, J. P.;
Correia, A.;
Santos, H. G.

Publication type:

Article

Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 141, doi. 10.1111/j.1399-0004.2008.01125.x

By:

Barrow, E.;
Robinson, L.;
Alduaij, W.;
Shenton, A.;
Clancy, T.;
Lalloo, F.;
Hill, J.;
Evans, D. G.

Publication type:

Article

Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 133, doi. 10.1111/j.1399-0004.2008.01131.x

By:

Zhang, Y.-X.;
Zhang, Y.-P.;
Gu, Y.;
Guan, F.-J.;
Li, S.-L.;
Xie, J.-S.;
Shen, Y.;
Wu, B.-L.;
Ju, W.;
Jenkins, E. C.;
Brown, W. T.;
Zhong, N.

Publication type:

Article

The genetics of brachyolmia: between cilia and cell volume regulation.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 118, doi. 10.1111/j.1399-0004.2008.01140_1.x

By:

Stein, R. A.

Publication type:

Article

Digital clubbing: finally, a gene.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 119, doi. 10.1111/j.1399-0004.2008.01140_2.x

By:

Stein, R. A.

Publication type:

Article

A short-lived mRNA linked to blindness.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 121, doi. 10.1111/j.1399-0004.2008.01140_3.x

By:

Stein, R. A.

Publication type:

Article

Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 124, doi. 10.1111/j.1399-0004.2008.01146.x

By:

Evans, D. G. R.;
Binchy, A.;
Shenton, A.;
Hopwood, P.;
Craufurd, D.

Publication type:

Article