Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 3

Results: 19

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 269, doi. 10.1111/j.1399-0004.2012.01895.x

By:

Li, M;
Pang, SYY;
Song, Y;
Kung, MHW;
Ho, S‐L;
Sham, P‐C

Publication type:

Article

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 274, doi. 10.1111/j.1399-0004.2012.01891.x

By:

Mohebbi, N;
Vargas‐Poussou, R;
Hegemann, SCA;
Schuknecht, B;
Kistler, AD;
Wüthrich, RP;
Wagner, CA

Publication type:

Article

The fragile X-associated tremor ataxia syndrome ( FXTAS) in Indonesia.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 263, doi. 10.1111/j.1399-0004.2012.01899.x

By:

Winarni, T I;
Mundhofir, F E P;
Ediati, A;
Belladona, M;
Nillesen, W M;
Yntema, H G;
Hamel, B C J;
Faradz, S M H;
Hagerman, R J

Publication type:

Article

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 212, doi. 10.1111/cge.12050

By:

Bögershausen, N;
Bruford, E;
Wollnik, B

Publication type:

Article

In relation to the article 'Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases' by Bögerhausen et al.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 295, doi. 10.1111/cge.12098

By:

Diaz, MO

Publication type:

Article

Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 293, doi. 10.1111/j.1399-0004.2012.01902.x

By:

Almaguer‐Mederos, LE;
Aguilera Rodríguez, R;
González Zaldivar, Y;
Almaguer Gotay, D;
Cuello Almarales, D;
Laffita Mesa, J;
Vázquez Mojena, Y;
Zayas Feria, P;
Auburger, G;
Gispert, S;
Velásquez Pérez, L

Publication type:

Article

Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 232, doi. 10.1111/j.1399-0004.2012.01906.x

By:

Narod, SA;
Moody, JRK;
Rosen, B;
Fan, I;
Risch, A;
Sun, P;
McLaughlin, JR

Publication type:

Article

New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 291, doi. 10.1111/j.1399-0004.2012.01894.x

By:

Suzuki, KT;
Torres, LC;
Sugayama, SMM;
Aguiar Alves, B da Costa;
Moreira‐Filho, CA;
Carneiro‐Sampaio, M

Publication type:

Article

Recurrent and founder mutations in the PMS2 gene.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 238, doi. 10.1111/j.1399-0004.2012.01898.x

By:

Tomsic, J;
Senter, L;
Liyanarachchi, S;
Clendenning, M;
Vaughn, C P;
Jenkins, M A;
Hopper, J L;
Young, J;
Samowitz, W;
Chapelle, A

Publication type:

Article

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 288, doi. 10.1111/j.1399-0004.2012.01901.x

By:

Ariani, F;
Mari, F;
Amitrano, S;
Di Marco, C;
Artuso, R;
Scala, E;
Meloni, I;
Della Volpe, R;
Rossi, A;
Bokhoven, H;
Renieri, A

Publication type:

Article

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 251, doi. 10.1111/j.1399-0004.2012.01905.x

By:

Holman, SK;
Morgan, T;
Baujat, G;
Cormier‐Daire, V;
Cho, T‐J;
Lees, M;
Samanich, J;
Tapon, D;
Hove, HD;
Hing, A;
Hennekam, R;
Robertson, SP

Publication type:

Article

Recommendations for the predictive genetic test in Huntington's disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 221, doi. 10.1111/j.1399-0004.2012.01900.x

By:

MacLeod, R;
Tibben, A;
Frontali, M;
Evers‐Kiebooms, G;
Jones, A;
Martinez‐Descales, A;
Roos, RA

Publication type:

Article

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 244, doi. 10.1111/j.1399-0004.2012.01904.x

By:

Chassaing, N;
Ragge, N;
Kariminejad, A;
Buffet, A;
Ghaderi‐Sohi, S;
Martinovic, J;
Calvas, P

Publication type:

Article

Modification of risk for cancer as a coincidental finding in DNA array investigation.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 284, doi. 10.1111/j.1399-0004.2012.01881.x

By:

Rostasy, K;
Fauth, C;
Gautsch, K;
Laimer, I;
Krabichler, B;
Wimmer, K;
Frühmesser, A;
Kotzot, D;
Moshir, S

Publication type:

Article

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 257, doi. 10.1111/j.1399-0004.2012.01896.x

By:

Sánchez‐Ferrero, E;
Coto, E;
Beetz, C;
Gámez, J;
Corao, AI;
Díaz, M;
Esteban, J;
del Castillo, E;
Moris, G;
Infante, J;
Menéndez, M;
Pascual‐Pascual, SI;
López de Munaín, A;
Garcia‐Barcina, MJ;
Alvarez, V

Publication type:

Article

Unmasking Kabuki syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 201, doi. 10.1111/cge.12051

By:

Bögershausen, N;
Wollnik, B

Publication type:

Article

Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 215, doi. 10.1111/cge.12091

By:

Burton‐Chase, AM;
Hovick, SR;
Peterson, SK;
Marani, SK;
Vernon, SW;
Amos, CI;
Frazier, ML;
Lynch, PM;
Gritz, ER

Publication type:

Article

Response to Diaz.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 296, doi. 10.1111/cge.12099

By:

Bögershausen, N;
Bruford, E;
Wollnik, B

Publication type:

Article

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 279, doi. 10.1111/j.1399-0004.2012.01903.x

By:

Lindquist, SG;
Duno, M;
Batbayli, M;
Puschmann, A;
Braendgaard, H;
Mardosiene, S;
Svenstrup, K;
Pinborg, LH;
Vestergaard, K;
Hjermind, LE;
Stokholm, J;
Andersen, BB;
Johannsen, P;
Nielsen, JE

Publication type:

Article