Works matching IS 00099163 AND DT 2014 AND VI 86 AND IP 4

Results: 18

Genetics of hypertrophic cardiomyopathy in Norway.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 355, doi. 10.1111/cge.12286

By:

Berge, K.E.;
Leren, T.P.

Publication type:

Article

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 342, doi. 10.1111/cge.12292

By:

Takayama, T.;
Takaoka, N.;
Nagata, M.;
Johnin, K.;
Okada, Y.;
Tanaka, S.;
Kawamura, M.;
Inokuchi, T.;
Ohse, M.;
Kuhara, T.;
Tanioka, F.;
Yamada, H.;
Sugimura, H.;
Ozono, S.

Publication type:

Article

Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 387, doi. 10.1111/cge.12296

By:

Ghaffari, S.R.;
Rafati, M.;
Ghaffari, G.;
Morra, M.;
Tekin, M.

Publication type:

Article

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 394, doi. 10.1111/cge.12290

By:

Nikkel, S.M.;
Ahmed, A.;
Smith, A.;
Marcadier, J.;
Bulman, D.E.;
Boycott, K.M.

Publication type:

Article

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275

By:

Chassaing, N.;
Causse, A.;
Vigouroux, A.;
Delahaye, A.;
Alessandri, J.‐L.;
Boespflug‐Tanguy, O.;
Boute‐Benejean, O.;
Dollfus, H.;
Duban‐Bedu, B.;
Gilbert‐Dussardier, B.;
Giuliano, F.;
Gonzales, M.;
Holder‐Espinasse, M.;
Isidor, B.;
Jacquemont, M.‐L.;
Lacombe, D.;
Martin‐Coignard, D.;
Mathieu‐Dramard, M.;
Odent, S.;
Picone, O.

Publication type:

Article

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 318, doi. 10.1111/cge.12352

By:

Lohan, S.;
Spielmann, M.;
Doelken, S.C.;
Flöttmann, R.;
Muhammad, F.;
Baig, S.M.;
Wajid, M.;
Hülsemann, W.;
Habenicht, R.;
Kjaer, K.W.;
Patil, S.J.;
Girisha, K.M.;
Abarca‐Barriga, H.H.;
Mundlos, S.;
Klopocki, E.

Publication type:

Article

PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 349, doi. 10.1111/cge.12282

By:

Chen, X.‐Y.;
Lu, F.;
Wang, Y.‐M.;
Yang, Y.;
Wei, G.‐Q.;
Wu, D.;
Wang, L.‐F.;
Wu, Y.‐M.

Publication type:

Article

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 378, doi. 10.1111/cge.12278

By:

Santa María, L.;
Pugin, A.;
Alliende, M.A.;
Aliaga, S.;
Curotto, B.;
Aravena, T.;
Tang, H.‐T.;
Mendoza‐Morales, G.;
Hagerman, R.;
Tassone, F.

Publication type:

Article

A novel mutation of the leptin gene in an Indian patient.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 391, doi. 10.1111/cge.12289

By:

Thakur, S.;
Kumar, A.;
Dubey, S.;
Saxena, R.;
Peters, A.N.C.;
Singhal, A.

Publication type:

Article

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 367, doi. 10.1111/cge.12297

By:

Ferri, L.;
Funghini, S.;
Fioravanti, A.;
Biondi, E.G.;
la Marca, G.;
Guerrini, R.;
Donati, M.A.;
Morrone, A.

Publication type:

Article

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 335, doi. 10.1111/cge.12279

By:

Faruq, M.;
Narang, A.;
Kumari, R.;
Pandey, R.;
Garg, A.;
Behari, M.;
Dash, D.;
Srivastava, A.K.;
Mukerji, M.

Publication type:

Article

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 396, doi. 10.1111/cge.12295

By:

Masciullo, M.;
Silvestri, G.;
Modoni, A.;
Tessa, A.;
Bianchi, M.L.E.;
Santorelli, F.M.

Publication type:

Article

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 361, doi. 10.1111/cge.12288

By:

Spreiz, A.;
Haberlandt, E.;
Baumann, M.;
Baumgartner Sigl, S.;
Fauth, C.;
Gautsch, K.;
Karall, D.;
Janetschek, C.;
Rostasy, K.;
Scholl‐Bürgi, S.;
Zotter, S.;
Utermann, G.;
Zschocke, J.;
Kotzot, D.

Publication type:

Article

A 'cure' for Down syndrome: what do parents want?

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 310, doi. 10.1111/cge.12364

By:

Inglis, A.;
Lohn, Z.;
Austin, J. C.;
Hippman, C.

Publication type:

Article

The kidney in Fabry's disease.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 301, doi. 10.1111/cge.12386

By:

Pisani, A.;
Visciano, B.;
Imbriaco, M.;
Di Nuzzi, A.;
Mancini, A.;
Marchetiello, C.;
Riccio, E.

Publication type:

Article

Frequency of DMPK mutation carriers in Korean women of childbearing age.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 398, doi. 10.1111/cge.12310

By:

Jang, J.‐H.;
Lee, J.W.;
Cho, E.‐H.;
Lee, E.‐H.;
Kim, J.‐W.;
Ki, C.‐S.

Publication type:

Article

Huntington disease and Huntington disease-like in a case series from Brazil.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 373, doi. 10.1111/cge.12283

By:

Castilhos, R.M.;
Souza, A.F.D.;
Furtado, G.V.;
Gheno, T.C.;
Silva, A.L.;
Vargas, F.R.;
Lima, M.‐A.F.D.;
Barsottini, O.;
Pedroso, J.L.;
Godeiro, C.;
Salarini, D.;
Pereira, E.T.;
Lin, K.;
Toralles, M.‐B.;
Saute, J.A.M.;
Rieder, C.R.;
Quintas, M.;
Sequeiros, J.;
Alonso, I.;
Saraiva‐Pereira, M.L.

Publication type:

Article

Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 383, doi. 10.1111/cge.12294

By:

Wada, T.;
Matsuda, Y.;
Muraoka, M.;
Toma, T.;
Takehara, K.;
Fujimoto, M.;
Yachie, A.

Publication type:

Article