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

Results: 16

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
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
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
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
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
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
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
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