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

Results: 17

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

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

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

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

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

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

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

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

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

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

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

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

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

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