Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 5

Results: 21

Study of the Huntington's disease IT-15 gene in different ethnic groups in Ecuador.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 544, doi. 10.1111/cge.13028

By:

Paz‐y‐Miño, C.;
Salazar‐Ruales, C.;
García‐Cárdenas, J.M.;
Cabrera‐Andrade, A.;
López‐Cortés, A.;
Pavón‐Realpe, V.H.;
Eras, E.;
Rodriguez P, C;
Domínguez Enríquez, J.P.;
Cusco Cuzco, C.D.;
Navarrete Socasi, D.C.;
Leone, P.E.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 92, n. 5, p. 455, doi. 10.1111/cge.12944
Publication type:: Article

Response to Lefebvre et al.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 563, doi. 10.1111/cge.13011

By:

Takeda, K.;
Kou, I.;
Kawakami, N.;
Yasuhiko, Y.;
Ogura, Y.;
Imagawa, E.;
Miyake, N.;
Matsumoto, N.;
Sudo, H.;
Kotani, T.;
Nakamura, M.;
Matsumoto, M.;
Watanabe, K.;
Ikegawa, S.

Publication type:

Article

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 510, doi. 10.1111/cge.13012

By:

Bondeson, M.‐L.;
Ericson, K.;
Gudmundsson, S.;
Ameur, A.;
Pontén, F.;
Wesström, J.;
Frykholm, C.;
Wilbe, M.

Publication type:

Article

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 540, doi. 10.1111/cge.13013

By:

Gripp, K.W.;
Baker, L.;
Kandula, V.;
Piatt, J.;
Walter, A.;
Chen, Z.;
Messiaen, L.

Publication type:

Article

Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 503, doi. 10.1111/cge.12993

By:

Zhu, Zhongxian;
Peng, Lei;
Chen, Guanglin;
Jiang, Weiwei;
Shen, Ziyang;
Du, Chunxia;
Zang, Rujin;
Su, Yang;
Xie, Hua;
Li, Hongxing;
Xia, Yankai;
Tang, Weibing

Publication type:

Article

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 517, doi. 10.1111/cge.13077

By:

Papazachariou, L.;
Papagregoriou, G.;
Hadjipanagi, D.;
Demosthenous, P.;
Voskarides, K.;
Koutsofti, C.;
Stylianou, K.;
Ioannou, P.;
Xydakis, D.;
Tzanakis, I.;
Papadaki, A.;
Kallivretakis, N.;
Nikolakakis, N.;
Perysinaki, G.;
Gale, D.P.;
Diamantopoulos, A.;
Goudas, P.;
Goumenos, D.;
Soloukides, A.;
Boletis, I.

Publication type:

Article

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 495, doi. 10.1111/cge.12968

By:

Kadara, H.;
Nemer, G.;
Safi, R.;
Rebeiz, N.;
Daou, L.;
Delbani, D.;
Btadini, W.;
Abbas, O.;
Tofaili, M.;
Bitar, F.;
Kibbi, A.G.;
Shimomura, Y.;
Kurban, M.

Publication type:

Article

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 554, doi. 10.1111/cge.13023

By:

Miyake, N.;
Inaba, M.;
Mizuno, S.;
Shiina, M.;
Imagawa, E.;
Miyatake, S.;
Nakashima, M.;
Mizuguchi, T.;
Takata, A.;
Ogata, K.;
Matsumoto, N.

Publication type:

Article

PAX9 gene mutations and tooth agenesis: A review.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 467, doi. 10.1111/cge.12986

By:

Bonczek, O.;
Balcar, V.J.;
Šerý, O.

Publication type:

Article

Response to Ciuculete et al.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 565, doi. 10.1111/cge.13041

By:

Smit, R.A.J.;
le Cessie, S.;
Jukema, J.W.;
Trompet, S.

Publication type:

Article

Response to Leusink et al.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 566, doi. 10.1111/cge.13042

By:

Ciuculete, D.M.;
Schiöth, H.B.;
Mwinyi, J.

Publication type:

Article

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 556, doi. 10.1111/cge.13062

By:

Lavillaureix, A.;
Heide, S.;
Chantot‐Bastaraud, S.;
Marey, I.;
Keren, B.;
Grigorescu, R.;
Jouannic, J.M.;
Gelot, A.;
Whalen, S.;
Héron, D.;
Siffroi, J.P.

Publication type:

Article

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 561, doi. 10.1111/cge.13069

By:

Bublitz, S.K.;
Alhaddad, B.;
Synofzik, M.;
Kuhl, V.;
Lindner, A.;
Freiberg, C.;
Schmidt, H.;
Strom, T.M.;
Haack, T.B.;
Deschauer, M.

Publication type:

Article

Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 559, doi. 10.1111/cge.13064

By:

Amin, S.;
Forrester, N.;
Norman, A.;
Lux, A.;
Vijayakumar, K.

Publication type:

Article

GLI3-related polydactyly: a review.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 457, doi. 10.1111/cge.12952

By:

Al‐Qattan, M.M.;
Shamseldin, H.E.;
Salih, M.A.;
Alkuraya, F.S.

Publication type:

Article

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 548, doi. 10.1111/cge.13083

By:

Tümer, Z.;
Petris, M.;
Zhu, S.;
Mercer, J.;
Bukrinski, J.;
Bilz, S.;
Baerlocher, K.;
Horn, N.;
Møller, L.B

Publication type:

Article

The mutation p. D313Y is associated with organ manifestation in Fabry disease.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 528, doi. 10.1111/cge.13007

By:

du Moulin, M.;
Koehn, A.F.;
Golsari, A.;
Dulz, S.;
Atiskova, Y.;
Patten, M.;
Münch, J.;
Avanesov, M.;
Ullrich, K.;
Muschol, N.

Publication type:

Article

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 534, doi. 10.1111/cge.13008

By:

Ozes, B.;
Karagoz, N.;
Schüle, R.;
Rebelo, A.;
Sobrido, M.‐J.;
Harmuth, F.;
Synofzik, M.;
Pascual, S.I.P.;
Colak, M.;
Ciftci‐Kavaklioglu, B.;
Kara, B.;
Ordóñez‐Ugalde, A.;
Quintáns, B.;
Gonzalez, M.A.;
Soysal, A.;
Zuchner, S.;
Battaloglu, E.

Publication type:

Article

Association of genetic variation with blood pressure traits among East Africans.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 487, doi. 10.1111/cge.12974

By:

Kayima, J.;
Liang, J.;
Natanzon, Y.;
Nankabirwa, J.;
Ssinabulya, I.;
Nakibuuka, J.;
Katamba, A.;
Mayanja‐Kizza, H.;
Miron, A.;
Li, C.;
Zhu, X.

Publication type:

Article

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 477, doi. 10.1111/cge.12972

By:

Tardieu, C.;
Jung, S.;
Niederreither, K.;
Prasad, M.;
Hadj‐Rabia, S.;
Philip, N.;
Mallet, A.;
Consolino, E.;
Sfeir, E.;
Noueiri, B.;
Chassaing, N.;
Dollfus, H.;
Manière, M.C.;
Bloch‐Zupan, A.;
Clauss, F.

Publication type:

Article