Works matching IS 00099163 AND DT 2015 AND VI 88 AND IP 1

Results: 18

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 25, doi. 10.1111/cge.12479
By:
- van der Steen, S.L.;
- Diderich, K.E.M.;
- Riedijk, S.R.;
- Verhagen‐Visser, J.;
- Govaerts, L.C.P.;
- Joosten, M.;
- Knapen, M.F.C.M.;
- Van Opstal, D.;
- Srebniak, M.I.;
- Tibben, A.;
- Galjaard, R.J.H.
Publication type:
Article
Cornelia de Lange syndrome.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499
By:
- Boyle, M.I.;
- Jespersgaard, C.;
- Brøndum‐Nielsen, K.;
- Bisgaard, A.‐M.;
- Tümer, Z.
Publication type:
Article
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 49, doi. 10.1111/cge.12440
By:
- McInerney‐Leo, A. M.;
- Duncan, E. L.;
- Leo, P. J.;
- Gardiner, B.;
- Bradbury, L. A.;
- Harris, J. E.;
- Clark, G. R.;
- Brown, M. A.;
- Zankl, A.
Publication type:
Article
The role of targeted BRCA1/ BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 41, doi. 10.1111/cge.12441
By:
- Peixoto, A.;
- Santos, C.;
- Pinto, P.;
- Pinheiro, M.;
- Rocha, P.;
- Pinto, C.;
- Bizarro, S.;
- Veiga, I.;
- Principe, A.S.;
- Maia, S.;
- Castro, F.;
- Couto, R.;
- Gouveia, A.;
- Teixeira, M.R.
Publication type:
Article
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 80, doi. 10.1111/cge.12442
By:
- Seo, S. H.;
- Hwang, S. M.;
- Ko, J. M.;
- Ko, J. S.;
- Hyun, Y. J.;
- Cho, S. I.;
- Park, H.;
- Kim, S. Y.;
- Seong, M.‐W.;
- Park, S. S.
Publication type:
Article
Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 56, doi. 10.1111/cge.12443
By:
- Yu, L.‐H.;
- Liu, D.;
- Cai, R.;
- Shang, X.;
- Zhang, X.‐H.;
- Ma, X.‐X.;
- Yan, S.‐H.;
- Fang, P.;
- Zheng, C.‐G.;
- Wei, X.‐F.;
- Liu, Y.‐H.;
- Zhou, T.‐B.;
- Xu, X.‐M.
Publication type:
Article
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444
By:
- Vela‐Amieva, M.;
- Abreu‐González, M.;
- González‐del Angel, A.;
- Ibarra‐González, I.;
- Fernández‐Lainez, C.;
- Barrientos‐Ríos, R.;
- Monroy‐Santoyo, S.;
- Guillén‐López, S.;
- Alcántara‐Ortigoza, M.A.
Publication type:
Article
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 68, doi. 10.1111/cge.12447
By:
- Mantere, T.;
- Haanpää, M.;
- Hanenberg, H.;
- Schleutker, J.;
- Kallioniemi, A.;
- Kähkönen, M.;
- Parto, K.;
- Avela, K.;
- Aittomäki, K.;
- von Koskull, H.;
- Hartikainen, J.M.;
- Kosma, V.‐M.;
- Laasanen, S.‐L.;
- Mannermaa, A.;
- Pylkäs, K.;
- Winqvist, R.
Publication type:
Article
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 74, doi. 10.1111/cge.12448
By:
- Anderson, S.L.;
- Jalas, C.;
- Fedick, A.;
- Reid, K.F.;
- Carpenter, T.O.;
- Chirnomas, D.;
- Treff, N.R.;
- Ekstein, J.;
- Rubin, B.Y.
Publication type:
Article
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 95, doi. 10.1111/cge.12516
By:
- Zaki, M. S.;
- Selim, L.;
- Mansour, L.;
- Mahmoud, I. G.;
- Fenstermaker, A. G.;
- Gabriel, S. B.;
- Gleeson, J. G.
Publication type:
Article
Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 13, doi. 10.1111/cge.12517
By:
- Schneider, M.;
- Chandler, K.;
- Tischkowitz, M.;
- Meyer, S.
Publication type:
Article
Response to Dylan Mordaunt and Alisha McLauchlan.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 99, doi. 10.1111/cge.12587
By:
- Boyle, M. I.;
- Tümer, Z.
Publication type:
Article
HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 98, doi. 10.1111/cge.12588
By:
- Mordaunt, D. A.;
- McLauchlan, A.
Publication type:
Article
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 34, doi. 10.1111/cge.12464
By:
- Dyment, D.A.;
- Tétreault, M.;
- Beaulieu, C.L.;
- Hartley, T.;
- Ferreira, P.;
- Chardon, J.W.;
- Marcadier, J.;
- Sawyer, S.L.;
- Mosca, S.J.;
- Innes, A.M.;
- Parboosingh, J.S.;
- Bulman, D.E.;
- Schwartzentruber, J.;
- Majewski, J.;
- Tarnopolsky, M.;
- Boycott, K.M.
Publication type:
Article
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. E1, doi. 10.1111/cge.12605
By:
- Srour, M.;
- Hamdan, F. F.;
- Gan‐Or, Z.;
- Labuda, D.;
- Nassif, C.;
- Oskoui, M.;
- Gana‐Weisz, M.;
- Orr‐Urtreger, A.;
- Rouleau, G.A.;
- Michaud, J.L.
Publication type:
Article
CRISPR screen: a high-throughput approach for cancer genetic research.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 32, doi. 10.1111/cge.12606
By:
- Lu, Xiao‐Jie;
- Xiang, Yuan‐Yuan;
- Li, Xue‐Jing
Publication type:
Article
An assessment of Canadian systems for triaging referred out genetic testing.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 90, doi. 10.1111/cge.12435
By:
- Christian, S.;
- Blumenschein, P.;
- Lilley, M.
Publication type:
Article
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 85, doi. 10.1111/cge.12438
By:
- Verver, E.;
- Pecci, A.;
- De Rocco, D.;
- Ryhänen, S.;
- Barozzi, S.;
- Kunst, H.;
- Topsakal, V.;
- Savoia, A.
Publication type:
Article