Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 4

Results: 17

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 380, doi. 10.1111/cge.12979
By:
- van den Boogaard, M.L.;
- Thijssen, P.E.;
- Aytekin, C.;
- Licciardi, F.;
- Kıykım, A.A.;
- Spossito, L.;
- Dalm, V.A.S.H.;
- Driessen, G.J.;
- Kersseboom, R.;
- de Vries, F.;
- van Ostaijen‐ten Dam, M.M.;
- Ikinciogullari, A.;
- Dogu, F.;
- Oleastro, M.;
- Bailardo, E.;
- Daxinger, L.;
- Nain, E.;
- Baris, S.;
- van Tol, M.J.D.;
- Weemaes, C.
Publication type:
Article
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 444, doi. 10.1111/cge.13000
By:
- Luyckx, I.;
- Proost, D.;
- Hendriks, J.M.H.;
- Saenen, J.;
- Van Craenenbroeck, E.M.;
- Vermeulen, T.;
- Peeters, N.;
- Wuyts, W.;
- Rodrigus, I.;
- Verstraeten, A.;
- Van Laer, L.;
- Loeys, B.L.
Publication type:
Article
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 415, doi. 10.1111/cge.13009
By:
- Di Gregorio, E.;
- Riberi, E.;
- Belligni, E.F.;
- Biamino, E.;
- Spielmann, M.;
- Ala, U.;
- Calcia, A.;
- Bagnasco, I.;
- Carli, D.;
- Gai, G.;
- Giordano, M.;
- Guala, A.;
- Keller, R.;
- Mandrile, G.;
- Arduino, C.;
- Maffè, A.;
- Naretto, V.G.;
- Sirchia, F.;
- Sorasio, L.;
- Ungari, S.
Publication type:
Article
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 440, doi. 10.1111/cge.13005
By:
- Fontana, P.;
- Grasso, M.;
- Acquaviva, F.;
- Gennaro, E.;
- Galli, M.L.;
- Falco, M.;
- Scarano, F.;
- Scarano, G.;
- Lonardo, F.
Publication type:
Article
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 423, doi. 10.1111/cge.12982
By:
- Zarate, Y.A.;
- Kalsner, L.;
- Basinger, A.;
- Jones, J.R.;
- Li, C.;
- Szybowska, M.;
- Xu, Z.L.;
- Vergano, S.;
- Caffrey, A.R.;
- Gonzalez, C.V.;
- Dubbs, H.;
- Zackai, E.;
- Millan, F.;
- Telegrafi, A.;
- Baskin, B.;
- Person, R.;
- Fish, J.L.;
- Everman, D.B.
Publication type:
Article
DEPDC5 mutations in familial and sporadic focal epilepsy.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 397, doi. 10.1111/cge.12992
By:
- Tsai, M.‐H.;
- Chan, C.‐K.;
- Chang, Y.‐C.;
- Yu, Y.‐T.;
- Chuang, S.‐T.;
- Fan, W.‐L.;
- Li, S.‐C.;
- Fu, T.‐Y.;
- Chang, W.‐N.;
- Liou, C.‐W.;
- Chuang, Y.‐C.;
- Ng, C.‐C.;
- Hwang, D.‐Y.;
- Lim, K.‐S.
Publication type:
Article
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 430, doi. 10.1111/cge.12995
By:
- Helbig, K.L.;
- Mroske, C.;
- Moorthy, D.;
- Sajan, S.A.;
- Velinov, M.
Publication type:
Article
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 434, doi. 10.1111/cge.12997
By:
- Oliveira, J.;
- Martins, M.;
- Pinto Leite, R.;
- Sousa, M.;
- Santos, R.
Publication type:
Article
Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 353, doi. 10.1111/cge.12943
Publication type:
Article
Systematic approach to understanding the pathogenesis of systemic sclerosis.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 365, doi. 10.1111/cge.12946
By:
- Zuo, Xiaoxia;
- Zhang, Lihua;
- Luo, Hui;
- Li, Yisha;
- Zhu, Honglin
Publication type:
Article
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 405, doi. 10.1111/cge.12994
By:
- Hansen, Maren F.;
- Johansen, Jostein;
- Sylvander, Anna E.;
- Bjørnevoll, Inga;
- Talseth‐Palmer, Bente A.;
- Lavik, Liss A. S.;
- Xavier, Alexandre;
- Engebretsen, Lars F.;
- Scott, Rodney J.;
- Drabløs, Finn;
- Sjursen, Wenche
Publication type:
Article
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 388, doi. 10.1111/cge.12988
By:
- Santana, L.S.;
- Caetano, L.A.;
- Costa‐Riquetto, A.D.;
- Quedas, E.P.S.;
- Nery, M.;
- Collett‐Solberg, P.;
- Boguszewski, M.C.S.;
- Vendramini, M.F.;
- Crisostomo, L.G.;
- Floh, F.O.;
- Zarabia, Z.I.;
- Kohara, S.K.;
- Guastapaglia, L.;
- Passone, C.G.B.;
- Sewaybricker, L.E.;
- Jorge, A.A.L.;
- Teles, M.G.
Publication type:
Article
Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 447, doi. 10.1111/cge.13016
By:
- McGovern, M.;
- Flanagan, O.;
- Lynch, B.;
- Lynch, S.A.;
- Allen, N.M.
Publication type:
Article
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 355, doi. 10.1111/cge.12954
By:
- Santoro, M.;
- Masciullo, M.;
- Silvestri, G.;
- Novelli, G.;
- Botta, A.
Publication type:
Article
Novel founder mutation in French-Canadian families with Naxos disease.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 451, doi. 10.1111/cge.12971
By:
- Marino, T. Cruz;
- Maranda, B.;
- Leblanc, J.;
- Pratte, A.;
- Barabas, M.;
- Dupéré, A.;
- Lévesque, S.
Publication type:
Article
Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 449, doi. 10.1111/cge.12977
By:
- Trimouille, A.;
- Barouk‐Simonet, E.;
- Charron, S.;
- Bouron, J.;
- Bernhard, J.‐C.;
- Lacombe, D.;
- Fergelot, P.;
- Rooryck, C.
Publication type:
Article
Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 372, doi. 10.1111/cge.12978
By:
- Ozyilmaz, B.;
- Kirbiyik, O.;
- Koc, A.;
- Ozdemir, T.R.;
- Kaya, O.O.;
- Guvenc, M.S.;
- Erdoğan, K.M.;
- Kutbay, Y.B.
Publication type:
Article