Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 1

Results: 15

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 84, doi. 10.1111/cge.12707

By:

Ekhilevitch, N.;
Kurolap, A.;
Oz‐Levi, D.;
Mory, A.;
Hershkovitz, T.;
Ast, G.;
Mandel, H.;
Baris, H.N.

Publication type:

Article

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 63, doi. 10.1111/cge.12709

By:

Mårtensson, A.;
Ivarsson, S.;
Letelier, A.;
Manderstedt, E.;
Halldén, C.;
Ljung, R.

Publication type:

Article

Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 35, doi. 10.1111/cge.12731

By:

Hervé, B.;
Coussement, A.;
Gilbert, T.;
Dumont, F.;
Jacques, S.;
Cuisset, L.;
Chicard, M.;
Hizem, S.;
Bourdoncle, P.;
Letourneur, F.;
Dupont, C.;
Vialard, F.;
Choiset, A.;
Dupont, J.‐M.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 90, n. 1, p. 1, doi. 10.1111/cge.12665
Publication type:: Article

Genetics of human Bardet-Biedl syndrome, an updates.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 3, doi. 10.1111/cge.12737

By:

Khan, S.A.;
Muhammad, N.;
Khan, M.A.;
Kamal, A.;
Rehman, Z.U.;
Khan, S.

Publication type:

Article

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 21, doi. 10.1111/cge.12759

By:

Mussa, A.;
Russo, S.;
de Crescenzo, A.;
Freschi, A.;
Calzari, L.;
Maitz, S.;
Macchiaiolo, M.;
Molinatto, C.;
Baldassarre, G.;
Mariani, M.;
Tarani, L.;
Bedeschi, M.F.;
Milani, D.;
Melis, D.;
Bartuli, A.;
Cubellis, M.V.;
Selicorni, A.;
Silengo, M.C.;
Larizza, L.;
Riccio, A.

Publication type:

Article

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 16, doi. 10.1111/cge.12755

By:

Basit, S.;
Hannan, M. A.;
Khoshhal, K. I.

Publication type:

Article

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 28, doi. 10.1111/cge.12675

By:

Leslie, E.J.;
Koboldt, D.C.;
Kang, C.J.;
Ma, L.;
Hecht, J.T.;
Wehby, G.L.;
Christensen, K.;
Czeizel, A.E.;
Deleyiannis, F.W.‐B.;
Fulton, R.S.;
Wilson, R.K.;
Beaty, T.H.;
Schutte, B.C.;
Murray, J.C.;
Marazita, M.L.

Publication type:

Article

Relevance of truncating titin mutations in dilated cardiomyopathy.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 49, doi. 10.1111/cge.12741

By:

Akinrinade, O.;
Alastalo, T.‐P.;
Koskenvuo, J.W.

Publication type:

Article

Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 99, doi. 10.1111/cge.12725

By:

Mujezinović, F;
Krgović, D;
Blatnik, A;
Zagradišnik, B;
Vipotnik, TV;
Golec, TČ;
Tul, N;
Vokač, N Kokalj

Publication type:

Article

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 55, doi. 10.1111/cge.12693

By:

Jelsig, A. M.;
Tørring, P. M.;
Kjeldsen, A. D.;
Qvist, N.;
Bojesen, A.;
Jensen, U. B.;
Andersen, M. K.;
Gerdes, A. M.;
Brusgaard, K.;
Ousager, L. B.

Publication type:

Article

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 69, doi. 10.1111/cge.12749

By:

Park, J.;
Jeong, D.‐C.;
Yoo, J.;
Jang, W.;
Chae, H.;
Kim, J.;
Kwon, A.;
Choi, H.;
Lee, J.W.;
Chung, N.‐G.;
Kim, M.;
Kim, Y.

Publication type:

Article

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 90, doi. 10.1111/cge.12694

By:

Waryah, A. M.;
Shahzad, M.;
Shaikh, H.;
Sheikh, S. A.;
Channa, N. A.;
Hufnagel, R. B.;
Makhdoom, A.;
Riazuddin, S.;
Ahmed, Z. M.

Publication type:

Article

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 79, doi. 10.1111/cge.12697

By:

Braun, J.J.;
Noblet, V.;
Kremer, S.;
Molière, S.;
Dollfus, H.;
Marion, V.;
Goetz, N.;
Muller, J.;
Riehm, S.

Publication type:

Article

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 96, doi. 10.1111/cge.12715

By:

Khan, A. O.;
Tamimi, M.;
Lenzner, S.;
Bolz, H. J.

Publication type:

Article