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

Results: 21

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
Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2017, v. 92, n. 5, p. 455, doi. 10.1111/cge.12944
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
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
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
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
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
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
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
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
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
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
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
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
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
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