Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 6

Results: 17

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 542, doi. 10.1111/cge.12553

By:

Yang, W.;
Lee, P.P.W.;
Thong, M.‐K.;
Ramanujam, T.M.;
Shanmugam, A.;
Koh, M.‐T.;
Chan, K.‐W.;
Ying, D.;
Wang, Y.;
Shen, J.J.;
Yang, J.;
Lau, Y.L.

Publication type:

Article

Genetic counselors' ( GC) knowledge, awareness, understanding of clinical next-generation sequencing ( NGS) genomic testing.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 565, doi. 10.1111/cge.12555

By:

Boland, P.M.;
Ruth, K.;
Matro, J.M.;
Rainey, K.L.;
Fang, C.Y.;
Wong, Y.N.;
Daly, M.B.;
Hall, M.J.

Publication type:

Article

Gene therapy for primary immunodeficiencies.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 507, doi. 10.1111/cge.12576

By:

Fischer, A.;
Hacein‐Bey Abina, S.;
Touzot, F.;
Cavazzana, M.

Publication type:

Article

Regulator of dendritic cell migration, ASAP1 is associated with increased susceptibility to tuberculosis.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 530, doi. 10.1111/cge.12611

By:

Waltl, S.

Publication type:

Article

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 550, doi. 10.1111/cge.12550

By:

McInerney‐Leo, A.M.;
Harris, J.E.;
Leo, P.J.;
Marshall, M.S.;
Gardiner, B.;
Kinning, E.;
Leong, H.Y.;
McKenzie, F.;
Ong, W.P.;
Vodopiutz, J.;
Wicking, C.;
Brown, M.A.;
Zankl, A.;
Duncan, E.L.

Publication type:

Article

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.( Leu1877Pro) mutation in MYH2.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 573, doi. 10.1111/cge.12552

By:

Cabrera‐Serrano, M.;
Fabian, V.A.;
Boutilier, J.;
Wise, C.;
Faiz, F.;
Lamont, P.J.;
Laing, N.G.

Publication type:

Article

Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 584, doi. 10.1111/cge.12558

By:

Souzeau, E.;
Glading, J.;
Ridge, B.;
Wechsler, D.;
Chehade, M.;
Dubowsky, A.;
Burdon, K.P.;
Craig, J.E.

Publication type:

Article

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 558, doi. 10.1111/cge.12561

By:

Chardon, Jodi Warman;
Smith, A.C.;
Woulfe, J.;
Pena, E.;
Rakhra, K.;
Dennie, C.;
Beaulieu, C.;
Huang, Lijia;
Schwartzentruber, J.;
Hawkins, C.;
Harms, M.B.;
Dojeiji, S.;
Zhang, M.;
Majewski, J.;
Bulman, D.E.;
Boycott, K.M.;
Dyment, D.A.

Publication type:

Article

PDGFRB mutation causes autosomal-dominant Penttinen syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 531, doi. 10.1111/cge.12680

By:

Aminkeng, F.

Publication type:

Article

Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 593, doi. 10.1111/cge.12595

By:

Meloni, V.A.;
Moysés‐Oliveira, M.;
Melo, M.C.C.;
Caneloi, T.P.;
Dantas, A.G.;
Soares, M.F.F.;
Fock, R.;
Rodrigues de Nicola, P.D.;
Dias‐da‐Silva, M.R.;
Melaragno, M.I.

Publication type:

Article

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 579, doi. 10.1111/cge.12549

By:

Tenorio, J.;
Navas, P.;
Barrios, E.;
Fernández, L.;
Nevado, J.;
Quezada, C.A.;
López‐Meseguer, M.;
Arias, P.;
Mena, R.;
Lobo, J.L.;
Alvarez, C.;
Heath, K.;
Escribano‐Subías, P.;
Lapunzina, P.

Publication type:

Article

Malignancy in Noonan syndrome and related disorders.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 516, doi. 10.1111/cge.12568

By:

Smpokou, P.;
Zand, D.J.;
Rosenbaum, K.N.;
Summar, M.L.

Publication type:

Article

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 532, doi. 10.1111/cge.12681

By:

Aminkeng, F.

Publication type:

Article

Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 533, doi. 10.1111/cge.12560

By:

Rosenthal, E.T.;
Bowles, K.R.;
Pruss, D.;
van Kan, A.;
Vail, P.J.;
McElroy, H.;
Wenstrup, R.J.

Publication type:

Article

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 597, doi. 10.1111/cge.12581

By:

Williams, C.;
Jiang, Y.‐H.;
Shashi, V.;
Crimian, R.;
Schoch, K.;
Harper, A.;
McHale, D.;
Goldstein, D.;
Petrovski, S.

Publication type:

Article

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 523, doi. 10.1111/cge.12563

By:

Scherr, C.L.;
Lindor, N.M.;
Malo, T.L.;
Couch, F.J.;
Vadaparampil, S.T.

Publication type:

Article

Ethical considerations of population screening for late-onset genetic disease.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 589, doi. 10.1111/cge.12566

By:

Golden‐Grant, K.;
Merritt, J.L.;
Scott, C.R.

Publication type:

Article