Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 5

Results: 15

The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 420, doi. 10.1111/cge.12766

By:

Hidding, E.;
Swaab, H.;
Sonneville, L.M.J.;
Engeland, H.;
Vorstman, J.A.S.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 90, n. 5, p. 391, doi. 10.1111/cge.12669
Publication type:: Article

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 413, doi. 10.1111/cge.12729

By:

Jansen, S.;
Kleefstra, T.;
Willemsen, M.H.;
Vries, P.;
Pfundt, R.;
Hehir‐Kwa, J.Y.;
Gilissen, C.;
Veltman, J.A.;
Vries, B.B.A.;
Vissers, L.E.L.M.

Publication type:

Article

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 461, doi. 10.1111/cge.12756

By:

Ferri, L.;
Dionisi‐Vici, C.;
Taurisano, R.;
Vaz, F. M.;
Guerrini, R.;
Morrone, A.

Publication type:

Article

Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 428, doi. 10.1111/cge.12768

By:

Ma, Y.;
Chen, C.;
Wang, Y.;
Wu, L.;
He, F.;
Zhang, C.;
Deng, X.;
Yang, L.;
Chen, Y.;
Yin, F.;
Peng, J.

Publication type:

Article

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 445, doi. 10.1111/cge.12771

By:

Grandone, A.;
Torella, A.;
Santoro, C.;
Giugliano, T.;
del Vecchio Blanco, F.;
Mutarelli, M.;
Cirillo, M.;
Cirillo, G.;
Piluso, G.;
Capristo, C.;
Festa, A.;
Marzuillo, P.;
Miraglia del Giudice, E.;
Perrone, L.;
Nigro, V.

Publication type:

Article

Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 451, doi. 10.1111/cge.12772

By:

Tong, H.;
Jin, Y.;
Xu, Y.;
Zou, B.;
Ye, H.;
Wu, H.;
Kumar, S.;
Pitman, J.L.;
Zhou, G.;
Song, Q.

Publication type:

Article

Down syndrome in adults: a 27-year follow-up of adaptive skills.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 456, doi. 10.1111/cge.12787

By:

Arvio, M.;
Luostarinen, L.

Publication type:

Article

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 472, doi. 10.1111/cge.12805

By:

Zaha, K.;
Matsumoto, H.;
Itoh, M.;
Saitsu, H.;
Kato, K.;
Kato, M.;
Ogata, S.;
Murayama, K.;
Kishita, Y.;
Mizuno, Y.;
Kohda, M.;
Nishino, I.;
Ohtake, A.;
Okazaki, Y.;
Matsumoto, N.;
Nonoyama, S.

Publication type:

Article

Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 466, doi. 10.1111/cge.12806

By:

Major, T.;
Gindele, R.;
Szabó, Z.;
Alef, T.;
Thiele, B.;
Bora, L.;
Kis, Z.;
Bárdossy, P.;
Rácz, T.;
Havacs, I.;
Bereczky, Z.

Publication type:

Article

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 393, doi. 10.1111/cge.12812

By:

Jaruga, A.;
Hordyjewska, E.;
Kandzierski, G.;
Tylzanowski, P.

Publication type:

Article

Characterization of SPATA5-related encephalopathy in early childhood.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 437, doi. 10.1111/cge.12813

By:

Kurata, H.;
Terashima, H.;
Nakashima, M.;
Okazaki, T.;
Matsumura, W.;
Ohno, K.;
Saito, Y.;
Maegaki, Y.;
Kubota, M.;
Nanba, E.;
Saitsu, H.;
Matsumoto, N.;
Kato, M.

Publication type:

Article

Mutation in JPH2 cause dilated cardiomyopathy.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 468, doi. 10.1111/cge.12825

By:

Sabater‐Molina, M.;
Navarro, M.;
García‐Molina Sáez, E.;
Garrido, I.;
Pascual‐Figal, D.;
González Carrillo, J.;
Gimeno Blanes, J.R.

Publication type:

Article

Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 470, doi. 10.1111/cge.12830

By:

Gupta, N.;
Shastri, S.;
Singh, P.K.;
Jana, M.;
Mridha, A.;
Verma, G.;
Kabra, M.

Publication type:

Article

Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 5, p. 403, doi. 10.1111/cge.12807

By:

Furuya, Mitsuko;
Yao, Masahiro;
Tanaka, Reiko;
Nagashima, Yoji;
Kuroda, Naoto;
Hasumi, Hisashi;
Baba, Masaya;
Matsushima, Jun;
Nomura, Fumio;
Nakatani, Yukio

Publication type:

Article