Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 5

Results: 19

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 452, doi. 10.1111/j.1399-0004.2012.01950.x

By:

Roberts, JD;
Herkert, JC;
Rutberg, J;
Nikkel, SM;
Wiesfeld, ACP;
Dooijes, D;
Gow, RM;
Tintelen, JP;
Gollob, MH

Publication type:

Article

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 467, doi. 10.1111/j.1399-0004.2012.01955.x

By:

Banka, S;
Howard, E;
Bunstone, S;
Chandler, KE;
Kerr, B;
Lachlan, K;
McKee, S;
Mehta, SG;
Tavares, ALT;
Tolmie, J;
Donnai, D

Publication type:

Article

Genetic heterogeneity in Pakistani microcephaly families.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 446, doi. 10.1111/j.1399-0004.2012.01932.x

By:

Sajid Hussain, M;
Marriam Bakhtiar, S;
Farooq, M;
Anjum, I;
Janzen, E;
Reza Toliat, M;
Eiberg, H;
Kjaer, KW;
Tommerup, N;
Noegel, AA;
Nürnberg, P;
Baig, SM;
Hansen, L

Publication type:

Article

Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 494, doi. 10.1111/j.1399-0004.2012.01954.x

By:

Seo, SH;
Ahn, HS;
Yu, YS;
Kang, HJ;
Park, KD;
Cho, SI;
Park, JS;
Hyun, YJ;
Kim, JY;
Seong, M‐W;
Park, SS

Publication type:

Article

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 422, doi. 10.1111/cge.12000

By:

Mehta, SG;
Khare, M;
Ramani, R;
Watts, GDJ;
Simon, M;
Osann, KE;
Donkervoort, S;
Dec, E;
Nalbandian, A;
Platt, J;
Pasquali, M;
Wang, A;
Mozaffar, T;
Smith, CD;
Kimonis, VE

Publication type:

Article

Autism spectrum disorder in the genetics clinic: a review.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 399, doi. 10.1111/cge.12101

By:

Carter, MT;
Scherer, SW

Publication type:

Article

Fabry disease in children: agalsidase-beta enzyme replacement therapy.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 432, doi. 10.1111/j.1399-0004.2012.01947.x

By:

Borgwardt, L;
Feldt‐Rasmussen, U;
Rasmussen, AK;
Ballegaard, M;
Meldgaard Lund, A

Publication type:

Article

Molecular characterization and clinical presentation of HKαα and anti- HKαα alleles in southern Chinese subjects.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 472, doi. 10.1111/cge.12021

By:

Shang, X;
Li, Q;
Cai, R;
Huang, J;
Wei, X;
Xu, X

Publication type:

Article

Doing the right thing for one's children: deciding whether to take the genetic test for Huntington's disease as a moral dilemma.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 417, doi. 10.1111/cge.12124

By:

Smith, JA;
Stephenson, M;
Jacobs, C;
Quarrell, O

Publication type:

Article

Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 439, doi. 10.1111/j.1399-0004.2012.01939.x

By:

Jahnavi, S;
Poovazhagi, V;
Mohan, V;
Bodhini, D;
Raghupathy, P;
Amutha, A;
Suresh Kumar, P;
Adhikari, P;
Shriraam, M;
Kaur, T;
Das, AK;
Molnes, J;
Njolstad, PR;
Unnikrishnan, R;
Radha, V

Publication type:

Article

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis Clinical and genetic heterogeneity of amyotrophic lateral sclerosis.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 408, doi. 10.1111/cge.12117

By:

Sabatelli, M;
Conte, A;
Zollino, M

Publication type:

Article

Estrogen receptor mutation in a girl with primary amenorrhea.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 497, doi. 10.1111/cge.12083

By:

Asadi, M;
Ghafouri‐Fard, S;
Zare‐Abdollahi, D;
Ebrahim‐Habibi, A;
Matin, N

Publication type:

Article

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 477, doi. 10.1111/cge.12006

By:

Gao, J;
Xue, J;
Chen, Li;
Ke, X;
Qi, Y;
Liu, Y

Publication type:

Article

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 462, doi. 10.1111/j.1399-0004.2012.01952.x

By:

Hernández‐Imaz, E;
Campos, B;
Rodríguez‐Álvarez, FJ;
Abad, O;
Melean, G;
Gardenyes, J;
Martín, Y;
Hernández‐Chico, C

Publication type:

Article

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 491, doi. 10.1111/j.1399-0004.2012.01934.x

By:

Muñoz‐Muñoz, J;
Cuadrado‐Grande, N;
Moreno‐Carralero, M‐I;
Hoyos‐Sanabria, B;
Manubes‐Guarch, A;
González, A‐F;
Tejada‐Palacios, P;
del‐Castillo‐Rueda, A;
Morán‐Jiménez, M‐J

Publication type:

Article

Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 488, doi. 10.1111/j.1399-0004.2012.01949.x

By:

Papari, E;
Bastami, M;
Farhadi, A;
Abedini, SS;
Hosseini, M;
Bahman, I;
Mohseni, M;
Garshasbi, M;
Moheb, L Abbasi;
Behjati, F;
Kahrizi, K;
Ropers, H‐H;
Najmabadi, H

Publication type:

Article

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 457, doi. 10.1111/j.1399-0004.2012.01951.x

By:

Hanchard, NA;
Murdock, DR;
Magoulas, PL;
Bainbridge, M;
Muzny, D;
Wu, YQ;
Wang, M;
McGuire, AL;
Lupski, JR;
Gibbs, RA;
Brown, CW

Publication type:

Article

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 482, doi. 10.1111/j.1399-0004.2012.01922.x

By:

Ragge, NK;
Quaghebeur, G;
Stewart, H

Publication type:

Article

The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 485, doi. 10.1111/j.1399-0004.2012.01933.x

By:

Campbell, J;
Speevak, MD

Publication type:

Article