Works matching IS 00099163 AND DT 2016 AND VI 89 AND IP 6

Results: 16

Assessment of PAX6 alleles in 66 families with aniridia.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 669, doi. 10.1111/cge.12708

By:

Bobilev, A.M.;
McDougal, M.E.;
Taylor, W.L.;
Geisert, E.E.;
Netland, P.A.;
Lauderdale, J.D.

Publication type:

Article

Mutational spectrum of Korean patients with corneal dystrophy.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 678, doi. 10.1111/cge.12726

By:

Chae, H.;
Kim, M.;
Kim, Y.;
Kim, J.;
Kwon, A.;
Choi, H.;
Park, J.;
Jang, W.;
Lee, Y.S.;
Park, S.H.;
Kim, M.S.

Publication type:

Article

Systematic review of chronic pain in persons with Marfan syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 647, doi. 10.1111/cge.12699

By:

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

Publication type:

Article

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 708, doi. 10.1111/cge.12740

By:

Oikonomakis, V.;
Kosma, K.;
Mitrakos, A.;
Sofocleous, C.;
Pervanidou, P.;
Syrmou, A.;
Pampanos, A.;
Psoni, S.;
Fryssira, H.;
Kanavakis, E.;
Kitsiou‐Tzeli, S.;
Tzetis, M.

Publication type:

Article

Genetic causes of MCPH in consanguineous Pakistani families.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 744, doi. 10.1111/cge.12685

By:

Kraemer, Nadine;
Picker‐Minh, Sylvie;
Abbasi, Ansar A.;
Fröhler, Sebastian;
Ninnemann, Olaf;
Khan, Muhammad N.;
Ali, Ghazanfar;
Chen, Wei;
Kaindl, Angela M.

Publication type:

Article

A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 739, doi. 10.1111/cge.12752

By:

Oka, M.;
Shimojima, K.;
Yamamoto, T.;
Hanaoka, Y.;
Sato, S.;
Yasuhara, T.;
Yoshinaga, H.;
Kobayashi, K.

Publication type:

Article

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 719, doi. 10.1111/cge.12702

By:

Regalado, E.S.;
Guo, D.C.;
Santos‐Cortez, R.L.P.;
Hostetler, E.;
Bensend, T.A.;
Pannu, H.;
Estrera, A.;
Safi, H.;
Mitchell, A.L.;
Evans, J.P.;
Leal, S.M.;
Bamshad, M.;
Shendure, J.;
Nickerson, D.A.;
Milewicz, D.M.

Publication type:

Article

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 746, doi. 10.1111/cge.12705

By:

Apra, C.;
Collet, C.;
Arnaud, E.;
Di Rocco, F.

Publication type:

Article

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 690, doi. 10.1111/cge.12746

By:

Neuillé, M.;
Malaichamy, S.;
Vadalà, M.;
Michiels, C.;
Condroyer, C.;
Sachidanandam, R.;
Srilekha, S.;
Arokiasamy, T.;
Letexier, M.;
Démontant, V.;
Sahel, J.‐A.;
Sen, P.;
Audo, I.;
Soumittra, N.;
Zeitz, C.

Publication type:

Article

SATB2-associated syndrome presenting with Rett-like phenotypes.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 728, doi. 10.1111/cge.12698

By:

Lee, J.S.;
Yoo, Y.;
Lim, B.C.;
Kim, K.J.;
Choi, M.;
Chae, J.‐H.

Publication type:

Article

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 659, doi. 10.1111/cge.12722

By:

Mouden, C.;
Dubourg, C.;
Carré, W.;
Rose, S.;
Quelin, C.;
Akloul, L.;
Hamdi‐Rozé, H.;
Viot, G.;
Salhi, H.;
Darnault, P.;
Odent, S.;
Dupé, V.;
David, V.

Publication type:

Article

The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 733, doi. 10.1111/cge.12769

By:

Schönewolf‐Greulich, B.;
Tejada, M.‐I.;
Stephens, K.;
Hadzsiev, K.;
Gauthier, J.;
Brøndum‐Nielsen, K.;
Pfundt, R.;
Ravn, K.;
Maortua, H.;
Gener, B.;
Martínez‐Bouzas, C.;
Piton, A.;
Rouleau, G.;
Clayton‐Smith, J.;
Kleefstra, T.;
Bisgaard, A.‐M.;
Tümer, Z.

Publication type:

Article

The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 639, doi. 10.1111/cge.12713

By:

Zhang, L.;
Wang, H.‐H.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 89, n. 6, p. 637, doi. 10.1111/cge.12664
Publication type:: Article

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 700, doi. 10.1111/cge.12732

By:

Thevenon, J.;
Duffourd, Y.;
Masurel‐Paulet, A.;
Lefebvre, M.;
Feillet, F.;
El Chehadeh‐Djebbar, S.;
St‐Onge, J.;
Steinmetz, A.;
Huet, F.;
Chouchane, M.;
Darmency‐Stamboul, V.;
Callier, P.;
Thauvin‐Robinet, C.;
Faivre, L.;
Rivière, J.B.

Publication type:

Article

DMRTA2 ( DMRT5) is mutated in a novel cortical brain malformation.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 724, doi. 10.1111/cge.12734

By:

Urquhart, J.E.;
Beaman, G.;
Byers, H.;
Roberts, N.A.;
Chervinsky, E.;
O'Sullivan, J.;
Pilz, D.;
Fry, A.;
Williams, S.G.;
Bhaskar, S.S.;
Khayat, M.;
Simanovsky, N.;
Shachar, I.B.;
Shalev, S.A.;
Newman, W.G.

Publication type:

Article