Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 2

Results: 18

Clinical Exome/Genome Reports-Announcement.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 99, doi. 10.1111/cge.12556

By:

Hayden, Michael R.;
Pena, Sergio;
Mundlos, Stefan

Publication type:

Article

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 100, doi. 10.1111/cge.12450

By:

Thompson, B.A.;
Martins, A.;
Spurdle, A.B.

Publication type:

Article

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 185, doi. 10.1111/cge.12351

By:

Al‐Zadjali, S.;
Al‐Tamemi, S.;
Elnour, I.;
AlKindi, S.;
Lapoumeroulie, C.;
Al‐Maamari, S.;
Pathare, A.;
Dennison, D.;
Krishnamoorthy, R.

Publication type:

Article

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 133, doi. 10.1111/cge.12409

By:

Patel, R.M.;
Nagamani, S.C.S.;
Cuthbertson, D.;
Campeau, P.M.;
Krischer, J.P.;
Shapiro, J.R.;
Steiner, R.D.;
Smith, P.A.;
Bober, M.B.;
Byers, P.H.;
Pepin, M.;
Durigova, M.;
Glorieux, F.H.;
Rauch, F.;
Lee, B.H.;
Hart, T.;
Sutton, V.R.

Publication type:

Article

A novel ACAD8 mutation in asymptomatic patients with isobutyryl- CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 196, doi. 10.1111/cge.12350

By:

Yun, J.W.;
Jo, K.I.;
Woo, H.I.;
Lee, S.‐Y.;
Ki, C.‐S.;
Kim, J.‐W.;
Song, J.;
Lee, D.H.;
Lee, Y.‐W.;
Park, H.‐D.

Publication type:

Article

Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 155, doi. 10.1111/cge.12337

By:

Riahi, A.;
Kharrat, M.;
Ghourabi, M. E.;
Khomsi, F.;
Gamoudi, A.;
Lariani, I.;
May, A. E.;
Rahal, K.;
Chaabouni‐Bouhamed, H.

Publication type:

Article

The impact of multiplex genetic testing on disease risk perceptions.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 117, doi. 10.1111/cge.12403

By:

Shiloh, S.;
deHeer, H.D.;
Peleg, S.;
Hensley Alford, S.;
Skapinsky, K.;
Roberts, J.S.;
Hadley, D.W.

Publication type:

Article

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. e1, doi. 10.1111/cge.12542

By:

Pena, S.D.J.;
Coimbra, R.L.M.

Publication type:

Article

Systematic review of the psychosocial aspects of living with Marfan syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 109, doi. 10.1111/cge.12422

By:

Velvin, G.;
Bathen, T.;
Rand‐Hendriksen, S.;
Geirdal, A.Ø.

Publication type:

Article

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 192, doi. 10.1111/cge.12374

By:

Yariz, K.O.;
Sakalar, Y.B.;
Jin, X.;
Hertz, J.;
Sener, E.F.;
Akay, H.;
Özbek, M.N.;
Farooq, A.;
Goldberg, J.;
Tekin, M.

Publication type:

Article

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 141, doi. 10.1111/cge.12355

By:

van de Kamp, J.M.;
Errami, A.;
Howidi, M.;
Anselm, I.;
Winter, S.;
Phalin‐Roque, J.;
Osaka, H.;
van Dooren, S.J.M.;
Mancini, G.M.;
Steinberg, S.J.;
Salomons, G.S.

Publication type:

Article

A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 179, doi. 10.1111/cge.12356

By:

Ma, Y.‐Y.;
Wu, T.‐F.;
Liu, Y.‐P.;
Wang, Q.;
Li, X.‐Y.;
Ding, Y.;
Song, J.‐Q.;
Yang, Y.‐L.;
Zou, L.‐P.

Publication type:

Article

Comprehensive genetic testing can save lives in hereditary hearing loss.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 190, doi. 10.1111/cge.12376

By:

Tekin, D.;
Tutar, E.;
Ozturkmen Akay, H.;
Blanton, S.;
Foster, J.;
Tekin, M.

Publication type:

Article

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 173, doi. 10.1111/cge.12347

By:

Loesch, D. Z.;
Bui, M. Q.;
Hammersley, E.;
Schneider, A.;
Storey, E.;
Stimpson, P.;
Burgess, T.;
Francis, D.;
Slater, H.;
Tassone, F.;
Hagerman, R. J.;
Hessl, D.

Publication type:

Article

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348

By:

Negri, G.;
Milani, D.;
Colapietro, P.;
Forzano, F.;
Della Monica, M.;
Rusconi, D.;
Consonni, L.;
Caffi, L. G.;
Finelli, P.;
Scarano, G.;
Magnani, C.;
Selicorni, A.;
Spena, S.;
Larizza, L.;
Gervasini, C.

Publication type:

Article

Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 124, doi. 10.1111/cge.12411

By:

Girardet, A.;
Ishmukhametova, A.;
Willems, M.;
Coubes, C.;
Hamamah, S.;
Anahory, T.;
Des Georges, M.;
Claustres, M.

Publication type:

Article

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 161, doi. 10.1111/cge.12342

By:

Sathya Priya, C.;
Sen, P.;
Umashankar, V.;
Gupta, N.;
Kabra, M.;
Kumaramanickavel, G.;
Stoetzel, C.;
Dollfus, H.;
Sripriya, S.

Publication type:

Article

Founder mutation for Huntington disease in Caucasus Jews.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 167, doi. 10.1111/cge.12344

By:

Melamed, O.;
Behar, D. M.;
Bram, C.;
Magal, N.;
Pras, E.;
Reznik‐Wolf, H.;
Borochowitz, Z. U.;
Davidov, B.;
Mor‐Cohen, R.;
Baris, H. N.

Publication type:

Article