Works matching IS 00099163 AND DT 2014 AND VI 86 AND IP 2

Results: 17

SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 194, doi. 10.1111/cge.12252
By:
- França, M.C.;
- Dogini, D.B.;
- D'Abreu, A.;
- Teive, H.A.G.;
- Munhoz, R.P.;
- Raskin, S.;
- Moro, A.;
- Melo, C.C.;
- Gomes, A.P.;
- Saute, J.A.M.;
- Jardim, L.B.;
- Lopes‐Cendes, I.
Publication type:
Article
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 142, doi. 10.1111/cge.12241
By:
- Weh, E.;
- Reis, L.M.;
- Tyler, R.C.;
- Bick, D.;
- Rhead, W.J.;
- Wallace, S.;
- McGregor, T.L.;
- Dills, S.K.;
- Chao, M.‐C.;
- Murray, J.C.;
- Semina, E.V.
Publication type:
Article
Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 149, doi. 10.1111/cge.12245
By:
- Boronat, S.;
- Shaaya, E.A.;
- Doherty, C.M.;
- Caruso, P.;
- Thiele, E.A.
Publication type:
Article
Strabismus genetics across a spectrum of eye misalignment disorders.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 103, doi. 10.1111/cge.12367
By:
- Ye, X.C.;
- Pegado, V.;
- Patel, M.S.;
- Wasserman, W.W.
Publication type:
Article
Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 181, doi. 10.1111/cge.12249
By:
- Summers, S.M.;
- Cogswell, J.;
- Goodrich, J.E.;
- Mu, Y.;
- Nguyen, D.V.;
- Brass, S.D.;
- Hagerman, R.J.
Publication type:
Article
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 134, doi. 10.1111/cge.12280
By:
- Fahiminiya, S.;
- Almuriekhi, M.;
- Nawaz, Z.;
- Staffa, A.;
- Lepage, P.;
- Ali, R.;
- Hashim, L.;
- Schwartzentruber, J.;
- Abu Khadija, K.;
- Zaineddin, S.;
- Gamal, H.;
- Majewski, J.;
- Ben‐Omran, T.
Publication type:
Article
Lynch syndrome mutations shared by the Baltic States and Poland.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 190, doi. 10.1111/cge.12251
By:
- Dymerska, D.;
- Kurzawski, G.;
- Suchy, J.;
- Roomere, H.;
- Toome, K.;
- Metspalu, A.;
- Janavičius, R.;
- Elsakov, P.;
- Irmejs, A.;
- Berzina, D.;
- Miklaševičs, E.;
- Gardovskis, J.;
- Rebane, E.;
- Kelve, M.;
- Kładny, J.;
- Huzarski, T.;
- Gronwald, J.;
- Dębniak, T.;
- Byrski, T.;
- Stembalska, A.
Publication type:
Article
Protein truncating variants of SLC30A8 reduce type 2 diabetes mellitus risk in humans.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 121, doi. 10.1111/cge.12412
By:
- Yakala, G.K.
Publication type:
Article
Molecular analysis for patients with IL-12 receptor β1 deficiency.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 161, doi. 10.1111/cge.12253
By:
- Ramirez‐Alejo, N.;
- Blancas‐Galicia, L.;
- Yamazaki‐Nakashimada, M.;
- García‐Rodríguez, S.E.;
- Rivas‐Larrauri, F.;
- Paolo‐Cienfuegos, D.P.;
- Alcantara‐Salinas, A.;
- Espinosa‐Rosales, F.;
- Santos‐Argumedo, L.
Publication type:
Article
Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient-family member dyads.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 112, doi. 10.1111/cge.12343
By:
- Shin, D.W.;
- Cho, J.;
- Roter, D.L.;
- Kim, S.Y.;
- Park, Ji.H.;
- Cho, B.;
- Eom, H.‐S.;
- Chung, J.‐S.;
- Yang, H.‐K.;
- Park, Jo.‐H.
Publication type:
Article
Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 185, doi. 10.1111/cge.12246
By:
- Burton‐Chase, A.M.;
- Hovick, S.R.;
- Sun, C.C.;
- Boyd‐Rogers, S.;
- Lynch, P.M.;
- Lu, K.H.;
- Peterson, S.K.
Publication type:
Article
The utilization of pre-implantation genetic testing in the absence of governance: a real-time experience.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 177, doi. 10.1111/cge.12250
By:
- Farra, C.;
- Nassar, A.;
- Arawi, T.;
- Ashkar, H.;
- Monsef, C.;
- Awwad, J.
Publication type:
Article
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 172, doi. 10.1111/cge.12236
By:
- Nikkel, S.M.;
- Huang, L.;
- Lachman, R.;
- Beaulieu, C.L.;
- Schwartzentruber, J.;
- Majewski, J.;
- Geraghty, M.T.;
- Boycott, K.M.
Publication type:
Article
Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 197, doi. 10.1111/cge.12260
By:
- Piccinno, E.;
- Ortolani, F.;
- Vendemiale, M.;
- Tummolo, A.;
- Masciopinto, M.;
- Natale, M.P.;
- De Luca, A.;
- Agolini, E.;
- Aloi, C.;
- Salina, A.;
- D'Annunzio, G.;
- Fischetto, R.;
- Papadia, F.
Publication type:
Article
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 167, doi. 10.1111/cge.12243
By:
- Pérez‐Carro, R.;
- Sánchez‐Alcudia, R.;
- Pérez, B.;
- Navarrete, R.;
- Pérez‐Cerdá, C.;
- Ugarte, M.;
- Desviat, L.R.
Publication type:
Article
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 155, doi. 10.1111/cge.12247
By:
- Webb, B.D.;
- Brandt, T.;
- Liu, L.;
- Jalas, C.;
- Liao, J.;
- Fedick, A.;
- Linderman, M.D.;
- Diaz, G.A.;
- Kornreich, R.;
- Trachtman, H.;
- Mehta, L.;
- Edelmann, L.
Publication type:
Article
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 123, doi. 10.1111/cge.12269
By:
- Tørring, P.M.;
- Brusgaard, K.;
- Ousager, L.B.;
- Andersen, P.E.;
- Kjeldsen, A.D.
Publication type:
Article