Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 2

Results: 19

Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 221, doi. 10.1111/cge.12956

By:

Stern, D.;
Cho, M.T.;
Chikarmane, R.;
Willaert, R.;
Retterer, K.;
Kendall, F.;
Deardorff, M.;
Hopkins, S.;
Bedoukian, E.;
Slavotinek, A.;
Schrier Vergano, S.;
Spangler, B.;
McDonald, M.;
McConkie‐Rosell, A.;
Burton, B.K.;
Kim, K.H.;
Oundjian, N.;
Kronn, D.;
Chandy, N.;
Baskin, B.

Publication type:

Article

The inheritance of juvenile onset primary open angle glaucoma.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 134, doi. 10.1111/cge.12906

By:

Gupta, V.;
Somarajan, B.I.;
Gupta, S.;
Chaurasia, A.K.;
Kumar, S.;
Dutta, P.;
Sharma, A.;
Tayo, B.O.;
Nischal, K.

Publication type:

Article

BMP15 'knockout-like' effect in familial premature ovarian insufficiency with persistent ovarian reserve.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 208, doi. 10.1111/cge.12970

By:

Mayer, A.;
Fouquet, B.;
Pugeat, M.;
Misrahi, M.

Publication type:

Article

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 166, doi. 10.1111/cge.12948

By:

Lumaka, A.;
Cosemans, N.;
Lulebo Mampasi, A.;
Mubungu, G.;
Mvuama, N.;
Lubala, T.;
Mbuyi‐Musanzayi, S.;
Breckpot, J.;
Holvoet, M.;
de Ravel, T.;
Van Buggenhout, G.;
Peeters, H.;
Donnai, D.;
Mutesa, L.;
Verloes, A.;
Lukusa Tshilobo, P.;
Devriendt, K.

Publication type:

Article

PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 172, doi. 10.1111/cge.12949

By:

Biesecker, B.B.;
Woolford, S.W.;
Klein, W.M.P.;
Brothers, K.B.;
Umstead, K.L.;
Lewis, K.L.;
Biesecker, L.G.;
Han, P.K.J.

Publication type:

Article

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 224, doi. 10.1111/cge.12960

By:

Gigante, M.;
Diella, S.;
Santangelo, L.;
Trevisson, E.;
Acosta, M.J.;
Amatruda, M.;
Finzi, G.;
Caridi, G.;
Murer, L.;
Accetturo, M.;
Ranieri, E.;
Ghiggeri, G.M.;
Giordano, M.;
Grandaliano, G.;
Salviati, L.;
Gesualdo, L.

Publication type:

Article

Genetic profile of Brazilian patients with dystrophinopathies.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 199, doi. 10.1111/cge.12975

By:

de Almeida, P.A.D.;
Machado‐Costa, M.C.;
Manzoli, G.N.;
Ferreira, L.S.;
Rodrigues, M.C.S.;
Bueno, L.S.M.;
Saute, J.A.M.;
Pinto Vairo, F.;
Matte, U.S.;
Siebert, M.;
Cossio, S.L.;
Macedo, G.S.;
Winckler, P.B.;
Becker, M.M.;
Magalhães, L.V.B.;
Gonçalves, M.V.M.;
Marrone, C.D.;
Nucci, A.;
França, M.C.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 92, n. 2, p. 119, doi. 10.1111/cge.12941
Publication type:: Article

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 158, doi. 10.1111/cge.12947

By:

Badiner, N.;
Taylor, S.P.;
Forlenza, K.;
Lachman, R. S.;
Bamshad, M.;
Nickerson, D.;
Cohn, D. H.;
Krakow, D.

Publication type:

Article

A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 150, doi. 10.1111/cge.13001

By:

Tsai, P.‐C.;
Tsai, Y.‐S.;
Soong, B.‐W.;
Huang, Y.‐H.;
Wu, H.‐T.;
Chen, Y.‐H.;
Lin, K.‐P.;
Liao, Y.‐C.;
Lee, Y.‐C.

Publication type:

Article

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 180, doi. 10.1111/cge.12991

By:

Iwama, Kazuhiro;
Mizuguchi, Takeshi;
Takanashi, Jun‐ichi;
Shibayama, Hidehiro;
Shichiji, Minobu;
Ito, Susumu;
Oguni, Hirokazu;
Yamamoto, Toshiyuki;
Sekine, Akiko;
Nagamine, Shun;
Ikeda, Yoshio;
Nishida, Hiroya;
Kumada, Satoko;
Yoshida, Takeshi;
Awaya, Tomonari;
Tanaka, Ryuta;
Chikuchi, Ryo;
Niwa, Hisayoshi;
Oka, Yu‐ichi;
Miyatake, Satoko

Publication type:

Article

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 213, doi. 10.1111/cge.12996

By:

Xu, C.;
Lang‐Muritano, M.;
Phan‐Hug, F.;
Dwyer, A.A.;
Sykiotis, G.P.;
Cassatella, D.;
Acierno, J.;
Mohammadi, M.;
Pitteloud, N.

Publication type:

Article

EDA mutation by exome sequencing in non-syndromic X-linked oligodontia.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 227, doi. 10.1111/cge.12961

By:

Martins, L.;
Machado, R. A.;
Araujo, D. S.;
Giovani, P. A.;
Rebouças, P. D.;
Rodrigues, L. P.;
Mofatto, L. S.;
Ribeiro, M. M.;
Coutinho, L. L.;
Puppin‐Rontani, R. M.;
Coletta, R. D.;
Nociti, F. H.;
Kantovitz, K. R.

Publication type:

Article

Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 143, doi. 10.1111/cge.12962

By:

An, X.‐K.;
Fang, J.;
Yu, Z.‐Z.;
Lin, Q.;
Lu, C.‐X.;
Qu, H.‐L.;
Ma, Q.‐L.

Publication type:

Article

A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 230, doi. 10.1111/cge.12963

By:

Sulaiman, R.A.;
Patel, N.;
Alsharif, H.;
Arold, S.T.;
Alkuraya, F.S.

Publication type:

Article

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 204, doi. 10.1111/cge.12969

By:

Klemetti, P.;
Valta, H.;
Kostjukovits, S.;
Taskinen, M.;
Toiviainen‐Salo, S.;
Mäkitie, O.

Publication type:

Article

A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 217, doi. 10.1111/cge.12981

By:

Tzeng, C.‐C.;
Tsai, L.‐P.;
Chang, Y.‐K.;
Hung, Y.‐J.;
Chang, Y.‐Y.;
Su, Y.‐P.;
Jiang, J.‐J.;
Liang, H.‐M.

Publication type:

Article

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 188, doi. 10.1111/cge.12985

By:

Nambot, S.;
Gavrilov, D.;
Thevenon, J.;
Bruel, A.L.;
Bainbridge, M.;
Rio, M.;
Goizet, C.;
Rötig, A.;
Jaeken, J.;
Niu, N.;
Xia, F.;
Vital, A.;
Houcinat, N.;
Mochel, F.;
Kuentz, P.;
Lehalle, D.;
Duffourd, Y.;
Rivière, J.B.;
Thauvin‐Robinet, C.;
Beaudet, A.L.

Publication type:

Article

Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 121, doi. 10.1111/cge.12868

By:

Willis, A.M.;
Smith, S.K.;
Meiser, B.;
Ballinger, M.L.;
Thomas, D.M.;
Young, M.‐A.

Publication type:

Article