Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 1

Results: 18

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 74, doi. 10.1111/cge.12330

By:

Al‐Aama, J.Y.;
Al‐Ghamdi, S.;
Bdier, A.Y.;
AlQarawi, A.;
Jiman, O.A.;
Al‐Aama, N.;
Al‐Aata, J.;
Wilde, A.A.M.;
Bhuiyan, Z.A.

Publication type:

Article

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 34, doi. 10.1111/cge.12401

By:

Roifman, M.;
Marcelis, C.L.M.;
Paton, T.;
Marshall, C.;
Silver, R.;
Lohr, J.L.;
Yntema, H.G.;
Venselaar, H.;
Kayserili, H.;
van Bon, B.;
Seaward, G.;
Brunner, H.G.;
Chitayat, D.

Publication type:

Article

Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 31, doi. 10.1111/cge.12483

By:

Gibson, W. T.

Publication type:

Article

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 85, doi. 10.1111/cge.12336

By:

Liao, X.;
Luo, Y.;
Zhan, Z.;
Du, J.;
Hu, Z.;
Wang, J.;
Guo, J.;
Yan, X.;
Pan, Q.;
Xia, K.;
Tang, B.;
Shen, L.

Publication type:

Article

Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 11, doi. 10.1111/cge.12436

By:

Cook, J.R.;
Carta, L.;
Galatioto, J.;
Ramirez, F.

Publication type:

Article

Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 42, doi. 10.1111/cge.12402

By:

Yuste‐Checa, P.;
Medrano, C.;
Gámez, A.;
Desviat, L.R.;
Matthijs, G.;
Ugarte, M.;
Pérez‐Cerdá, C.;
Pérez, B.

Publication type:

Article

DYRK1B variant linked to autosomal dominant metabolic syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 30, doi. 10.1111/cge.12477

By:

Hickmott, J.

Publication type:

Article

Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 32, doi. 10.1111/cge.12495

By:

Tay, Y.‐L.

Publication type:

Article

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 49, doi. 10.1111/cge.12332

By:

Vona, B.;
Hofrichter, M.A.H.;
Neuner, C.;
Schröder, J.;
Gehrig, A.;
Hennermann, J.B.;
Kraus, F.;
Shehata‐Dieler, W.;
Klopocki, E.;
Nanda, I.;
Haaf, T.

Publication type:

Article

Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 62, doi. 10.1111/cge.12326

By:

Warang, P.P.;
Kedar, P.S.;
Shanmukaiah, C.;
Ghosh, K.;
Colah, R.B.

Publication type:

Article

Array- CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 80, doi. 10.1111/cge.12328

By:

Gandomi, S.K.;
Parra, M.;
Reeves, D.;
Yap, V.;
Gau, C.‐L.

Publication type:

Article

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 56, doi. 10.1111/cge.12325

By:

Hijazi, H.;
Salih, M.A.;
Hamad, M.H.A.;
Hassan, H.H.;
Salih, S.B.M.;
Mohamed, K.A.;
Mukhtar, M.M.;
Karrar, Z.A.;
Ansari, S.;
Ibrahim, N.;
Alkuraya, F.S.

Publication type:

Article

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 68, doi. 10.1111/cge.12329

By:

Fernandes‐Lima, Z.S.;
Paixão‐Côrtes, V.R.;
de Andrade, A.K.M.;
Fernandes, A.S.;
Coronado, B.N.L.;
Monte Filho, H.P.;
Santos, M.J.;
de Omena Filho, R.L.;
Biondi, F.C.;
Ruiz‐Linares, A.;
Ramallo, V.;
Hünemeier, T.;
Schuler‐Faccini, L.;
Monlleó, I.L.

Publication type:

Article

Preferences for results from genomic microarrays: comparing parents and health care providers.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 21, doi. 10.1111/cge.12398

By:

Turbitt, E.;
Halliday, J.L.;
Amor, D.J.;
Metcalfe, S.A.

Publication type:

Article

Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 90, doi. 10.1111/cge.12340

By:

Lee, K.‐E.;
Ko, J.;
Le, C.G. Tran;
Shin, T.J.;
Hyun, H.‐K.;
Lee, S.‐H.;
Kim, J.‐W.

Publication type:

Article

Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 93, doi. 10.1111/cge.12341

By:

Ma, L.‐Y.;
Wang, L.;
Yang, Y.‐M.;
Lu, Y.;
Cheng, F.‐B.;
Wan, X.‐H.

Publication type:

Article

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 96, doi. 10.1111/cge.12346

By:

Neřoldová, M.;
Fraňková, S.;
Stránecký, V.;
Honsová, E.;
Lukšan, O.;
Beneš, M.;
Michalová, K.;
Kmoch, S.;
Jirsa, M.

Publication type:

Article

Cross-border reprogenetic services.

Published in:

Clinical Genetics, 2015, v. 87, n. 1, p. 1, doi. 10.1111/cge.12418

By:

Couture, V.;
Drouin, R.;
Tan, S.‐L.;
Moutquin, J.‐M.;
Bouffard, C.

Publication type:

Article