Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 1

Results: 16

DNA methylation in neurodegenerative disorders: a missing link between genome and environment?

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 1, doi. 10.1111/j.1399-0004.2011.01673.x

By:

Iraola-Guzmán, S.;
Estivill, X.;
Rabionet, R.

Publication type:

Article

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 83, doi. 10.1111/j.1399-0004.2010.01514.x

By:

Begemann, M.;
Spengler, S.;
Kanber, D.;
Haake, A.;
Baudis, M.;
Leisten, I.;
Binder, G.;
Markus, S.;
Rupprecht, T.;
Segerer, H.;
Fricke-Otto, S.;
Mühlenberg, R.;
Siebert, R.;
Buiting, K.;
Eggermann, T.

Publication type:

Article

Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 97, doi. 10.1111/j.1399-0004.2011.01691.x

By:

Zhang, L.;
Fleischut, M. H.;
Kohut, K.;
Spencer, S.;
Wong, K.;
Stadler, Z. K.;
Kauff, N. D.;
Offit, K.;
Robson, M. E.

Publication type:

Article

Craniofacial and intraoral phenotype of Robinow syndrome forms.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 15, doi. 10.1111/j.1399-0004.2011.01683.x

By:

Beiraghi, S.;
Leon-Salazar, V.;
Larson, B. E.;
John, M. T.;
Cunningham, M. L.;
Petryk, A.;
Lohr, J. L.

Publication type:

Article

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 31, doi. 10.1111/j.1399-0004.2010.01607.x

By:

Willemsen, M. H.;
Beunders, G.;
Callaghan, M.;
de Leeuw, N.;
Nillesen, W. M.;
Yntema, H. G.;
van Hagen, J. M.;
Nieuwint, A. W. M.;
Morrison, N.;
Keijzers-Vloet, S. T. M.;
Hoischen, A.;
Brunner, H. G.;
Tolmie, J.;
Kleefstra, T.

Publication type:

Article

Non-invasive prenatal determination of fetal sex: translating research into clinical practice.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 68, doi. 10.1111/j.1399-0004.2010.01533.x

By:

Hill, M.;
Finning, K.;
Martin, P.;
Hogg, J.;
Meaney, C.;
Norbury, G.;
Daniels, G.;
Chitty, L. S.

Publication type:

Article

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 39, doi. 10.1111/j.1399-0004.2010.01504.x

By:

Macías-Vidal, J.;
Rodríguez-Pascau, L.;
Sánchez-Ollé, G.;
Lluch, M.;
Vilageliu, L.;
Grinberg, D.;
Coll, M. J.

Publication type:

Article

Identification of five novel SPRED1 germline mutations in Legius syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 93, doi. 10.1111/j.1399-0004.2010.01618.x

By:

Laycock-van Spyk, S.;
Jim, H. P.;
Thomas, L.;
Spurlock, G.;
Fares, L.;
Palmer-Smith, S.;
Kini, U.;
Saggar, A.;
Patton, M.;
Mautner, V.;
Pilz, D. T.;
Upadhyaya, M.

Publication type:

Article

Contribution of VANGL2 mutations to isolated neural tube defects.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 76, doi. 10.1111/j.1399-0004.2010.01515.x

By:

Kibar, Z.;
Salem, S.;
Bosoi, C. M.;
Pauwels, E.;
De Marco, P.;
Merello, E.;
Bassuk, A. G.;
Capra, V.;
Gros, P.

Publication type:

Article

Erratum.

Published in:: 2011
Publication type:: Correction Notice

Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 28, doi. 10.1111/j.1399-0004.2011.01679.x

By:

Kang, M. H.

Publication type:

Article

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 50, doi. 10.1111/j.1399-0004.2010.01518.x

By:

Al-Owain, M.;
Wakil, S.;
Shareef, F.;
Al-Fatani, A.;
Hamadah, E.;
Haider, M.;
Al-Hindi, H.;
Awaji, A.;
Khalifa, O.;
Baz, B.;
Ramadhan, R.;
Meyer, B.

Publication type:

Article

It's a trap: bone abnormalities and autoimmune disorders resulting from TRAP deficiency.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 26, doi. 10.1111/j.1399-0004.2011.01678.x

By:

Sawkins, J. N.

Publication type:

Article

Identification of disease-associated DNA methylation in intestinal tissues from patients with inflammatory bowel disease.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 59, doi. 10.1111/j.1399-0004.2010.01546.x

By:

Lin, Z.;
Hegarty, J. P.;
Cappel, J. A.;
Yu, W.;
Chen, X.;
Faber, P.;
Wang, Y.;
Kelly, A. A.;
Poritz, L. S.;
Peterson, B. Z.;
Schreiber, S.;
Fan, J.-B.;
Koltun, W. A.

Publication type:

Article

Sequencing: the next generation. Moving beyond population-based recessive disease carrier screening.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 25, doi. 10.1111/j.1399-0004.2011.01677.x

By:

Kobelka, C. E.

Publication type:

Article

Family history, BRCA mutations and breast cancer in Vietnamese women.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 89, doi. 10.1111/j.1399-0004.2010.01545.x

By:

Ginsburg, O. M.;
Dinh, N. V.;
To, T. V.;
Quang, L. H.;
Linh, N. D.;
Duong, B. T. H.;
Royer, R.;
Llacuachaqui, M.;
Tulman, A.;
Vichodez, G.;
Li, S.;
Love, R. R.;
Narod, S. A.

Publication type:

Article