Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 1

Results: 19

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 65, doi. 10.1111/cge.12040

By:

Seidenari, S;
Pellacani, G;
Nasti, S;
Tomasi, A;
Pastorino, L;
Ghiorzo, P;
Ruini, C;
Bianchi‐Scarrà, G;
Pollio, A;
Mandel, VD;
Ponti, G

Publication type:

Article

Providing predictive testing for Huntington disease via telehealth: results of a pilot study in British Columbia, Canada.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 60, doi. 10.1111/cge.12033

By:

Hawkins, AK;
Creighton, S;
Ho, A;
McManus, B;
Hayden, MR

Publication type:

Article

Fragile X-associated tremor/ataxia syndrome ( FXTAS) in grey zone carriers.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 74, doi. 10.1111/cge.12026

By:

Liu, Y;
Winarni, TI;
Zhang, L;
Tassone, F;
Hagerman, RJ

Publication type:

Article

Epigenetic changes in diabetes.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 1, doi. 10.1111/cge.12121

By:

Keating, ST;
El‐Osta, A

Publication type:

Article

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 91, doi. 10.1111/cge.12019

By:

Kausar, T;
Bhatti, MA;
Ali, M;
Shaikh, RS;
Ahmed, ZM

Publication type:

Article

Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 43, doi. 10.1111/cge.12037

By:

Senst, N;
Llacuachaqui, M;
Lubinski, J;
Lynch, H;
Armel, S;
Neuhausen, S;
Ghadirian, P;
Sun, P;
Narod, SA

Publication type:

Article

First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 70, doi. 10.1111/cge.12025

By:

Daina, G;
Ramos, L;
Obradors, A;
Rius, M;
Martinez‐Pasarell, O;
Polo, A;
Rey, J;
Obradors, J;
Benet, J;
Navarro, J

Publication type:

Article

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 31, doi. 10.1111/cge.12036

By:

Rio, M;
Royer, G;
Gobin, S;
Blois, MC;
Ozilou, C;
Bernheim, A;
Nizon, M;
Munnich, A;
Bonnefont, J‐P;
Romana, S;
Vekemans, M;
Turleau, C;
Malan, V

Publication type:

Article

The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 55, doi. 10.1111/cge.12029

By:

Ong, FS;
Vakil, H;
Xue, Y;
Kuo, JZ;
Shah, KH;
Lee, RB;
Bernstein, KE;
Rimoin, DL;
Getzug, T;
Das, K;
Deignan, JL;
Rotter, JI;
Grody, WW

Publication type:

Article

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 86, doi. 10.1111/cge.12013

By:

Thauvin‐Robinet, C;
Thomas, S;
Sinico, M;
Aral, B;
Burglen, L;
Gigot, N;
Dollfus, H;
Rossignol, S;
Raynaud, M;
Philippe, C;
Badens, C;
Touraine, R;
Gomes, C;
Franco, B;
Lopez, E;
Elkhartoufi, N;
Faivre, L;
Munnich, A;
Boddaert, N;
Maldergem, L Van

Publication type:

Article

'Information is information': a public perspective on incidental findings in clinical and research genome-based testing.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 11, doi. 10.1111/cge.12167

By:

Daack‐Hirsch, S;
Driessnack, M;
Hanish, A;
Johnson, VA;
Shah, LL;
Simon, CM;
Williams, JK

Publication type:

Article

Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 37, doi. 10.1111/cge.12035

By:

Ingham, SL;
Warwick, J;
Byers, H;
Lalloo, F;
Newman, WG;
Evans, DGR

Publication type:

Article

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 97, doi. 10.1111/cge.12041

By:

Schoonveld, C;
Donsante, A;
Gaudio, D;
Waggoner, D;
Das, S;
Kaler, SG

Publication type:

Article

BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 94, doi. 10.1111/cge.12023

By:

Fernandez‐Rozadilla, C;
Brea‐Fernández, A;
Bessa, X;
Álvarez‐Urturi, C;
Abulí, A;
Clofent, J;
Payá, A;
Jover, R;
Xicola, R;
Llor, X;
Andreu, M;
Castells, A;
Carracedo, Á;
Castellví‐Bel, S;
Ruiz‐Ponte, C

Publication type:

Article

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 82, doi. 10.1111/cge.12034

By:

Bettella, E;
Di Rosa, G;
Polli, R;
Leonardi, E;
Tortorella, G;
Sartori, S;
Murgia, A

Publication type:

Article

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 20, doi. 10.1111/cge.12056

By:

Rasmussen, TB;
Hansen, J;
Nissen, PH;
Palmfeldt, J;
Dalager, S;
Jensen, UB;
Kim, WY;
Heickendorff, L;
Mølgaard, H;
Jensen, HK;
Sørensen, KE;
Baandrup, UT;
Bross, P;
Mogensen, J

Publication type:

Article

Of mice, men, and King Tut: autosomal recessive Klippel-Feil syndrome is caused by mutations in MEOX1.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 19, doi. 10.1111/cge.12159

By:

Rosti, RO

Publication type:

Article

Application of chromosomal microarray in the evaluation of abnormal prenatal findings.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 47, doi. 10.1111/cge.12027

By:

Yatsenko, SA;
Davis, S;
Hendrix, NW;
Surti, U;
Emery, S;
Canavan, T;
Speer, P;
Hill, L;
Clemens, M;
Rajkovic, A

Publication type:

Article

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 78, doi. 10.1111/cge.12038

By:

Kaltenbach, S;
Capri, Y;
Rossignol, S;
Denjoy, I;
Soudée, S;
Aboura, A;
Baumann, C;
Verloes, A

Publication type:

Article