Works matching IS 00099163 AND DT 2016 AND VI 89 AND IP 1

Results: 22

Neurological and endocrine phenotypes of fragile X carrier women.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 60, doi. 10.1111/cge.12646

By:

Hall, D.;
Todorova‐Koteva, K.;
Pandya, S.;
Bernard, B.;
Ouyang, B.;
Walsh, M.;
Pounardjian, T.;
Deburghraeve, C.;
Zhou, L.;
Losh, M.;
Leehey, M.;
Berry‐Kravis, E.

Publication type:

Article

Fragile-X syndrome -- a 20-year follow-up study of male patients.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 55, doi. 10.1111/cge.12639

By:

Arvio, M.

Publication type:

Article

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 82, doi. 10.1111/cge.12638

By:

Yatsenko, S.A.;
Bakos, H.A.;
Vitullo, K.;
Kedrov, M.;
Kishore, A.;
Jennings, B.J.;
Surti, U.;
Wood‐Trageser, M.A.;
Cercone, S.;
Yatsenko, A.N.;
Rajkovic, A.;
Iannaccone, A.

Publication type:

Article

New insights into Brunner syndrome and potential for targeted therapy.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 120, doi. 10.1111/cge.12589

By:

Palmer, E.E.;
Leffler, M.;
Rogers, C.;
Shaw, M.;
Carroll, R.;
Earl, J.;
Cheung, N.W.;
Champion, B.;
Hu, H.;
Haas, S.A.;
Kalscheuer, V.M.;
Gecz, J.;
Field, M.

Publication type:

Article

Gastrointestinal involvement in Fabry disease. So important, yet often neglected.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 5, doi. 10.1111/cge.12673

By:

Politei, J.;
Thurberg, B.L.;
Wallace, E.;
Warnock, D.;
Serebrinsky, G.;
Durand, C.;
Schenone, A.B.

Publication type:

Article

The Editors, in brief.

Published in:: Clinical Genetics, 2016, v. 89, n. 1, p. 4
Publication type:: Article

Clinical Genetics in the age of Genomics and Genome editing.

Published in:

2016

By:

Veitia, R. A.

Publication type:

Editorial

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 93, doi. 10.1111/cge.12674

By:

Longo, G.;
Russo, S.;
Novelli, G.;
Sangiuolo, F.;
D'Apice, M.R.

Publication type:

Article

Delineation of clinical features in Wiedemann--Steiner syndrome caused by KMT2A mutations.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 115, doi. 10.1111/cge.12586

By:

Miyake, N.;
Tsurusaki, Y.;
Koshimizu, E.;
Okamoto, N.;
Kosho, T.;
Brown, N.J.;
Tan, T.Y.;
Yap, P.J.J.;
Suzumura, H.;
Tanaka, T.;
Nagai, T.;
Nakashima, M.;
Saitsu, H.;
Niikawa, N.;
Matsumoto, N.

Publication type:

Article

Evaluating stakeholder's perspective on referred out genetic testing in Canada: a discrete choice experiment.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 133, doi. 10.1111/cge.12592

By:

Blumenschein, P.;
Lilley, M.;
Bakal, J.A.;
Christian, S.

Publication type:

Article

Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 128, doi. 10.1111/cge.12591

By:

Rijken, J.A.;
Niemeijer, N.D.;
Corssmit, E.P.M.;
Jonker, M.A.;
Leemans, C.R.;
Menko, F.H.;
Hensen, E.F.

Publication type:

Article

Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations -- different outcome?

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 88, doi. 10.1111/cge.12590

By:

Politei, J.;
Schenone, A.B.;
Cabrera, G.;
Heguilen, R.;
Szlago, M.

Publication type:

Article

X-chromosome inactivation in female patients with Fabry disease.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 44, doi. 10.1111/cge.12613

By:

Echevarria, L.;
Benistan, K.;
Toussaint, A.;
Dubourg, O.;
Hagege, A.A.;
Eladari, D.;
Jabbour, F.;
Beldjord, C.;
De Mazancourt, P.;
Germain, D.P.

Publication type:

Article

Diagnostic algorithms in Charcot--Marie--Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 34, doi. 10.1111/cge.12594

By:

Rudnik‐Schöneborn, S.;
Tölle, D.;
Senderek, J.;
Eggermann, K.;
Elbracht, M.;
Kornak, U.;
von der Hagen, M.;
Kirschner, J.;
Leube, B.;
Müller‐Felber, W.;
Schara, U.;
von Au, K.;
Wieczorek, D.;
Bußmann, C.;
Zerres, K.

Publication type:

Article

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 10, doi. 10.1111/cge.12579

By:

Bowdin, S.C.;
Hayeems, R.Z.;
Monfared, N.;
Cohn, R.D.;
Meyn, M.S.

Publication type:

Article

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 99, doi. 10.1111/cge.12565

By:

Kvarnung, M.;
Taylan, F.;
Nilsson, D.;
Albåge, M.;
Nordenskjöld, M.;
Anderlid, B.M.;
Nordgren, A.;
Syk Lundberg, E.

Publication type:

Article

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 20, doi. 10.1111/cge.12562

By:

Brancaleoni, V.;
Balwani, M.;
Granata, F.;
Graziadei, G.;
Missineo, P.;
Fiorentino, V.;
Fustinoni, S.;
Cappellini, M.D.;
Naik, H.;
Desnick, R.J.;
Di Pierro, E.

Publication type:

Article

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 109, doi. 10.1111/cge.12572

By:

Cuturilo, G.;
Hodge, J.C.;
Runke, C.K.;
Thorland, E.C.;
Al‐Owain, M.A.;
Ellison, J.W.;
Babovic‐Vuksanovic, D.

Publication type:

Article

Dysmorphology services: a snapshot of current practices and a vision for the future.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 27, doi. 10.1111/cge.12571

By:

Douzgou, S.;
Chervinsky, E.;
Gyftodimou, Y.;
Kitsiou‐Tzeli, S.;
Shalev, S.;
Kanavakis, E.;
Donnai, D.;
Clayton‐Smith, J.

Publication type:

Article

Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 104, doi. 10.1111/cge.12570

By:

Kecmanović, M.;
Jović, N.;
Keckarević‐Marković, M.;
Keckarević, D.;
Stevanović, G.;
Ignjatović, P.;
Romac, S.

Publication type:

Article

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 68, doi. 10.1111/cge.12567

By:

Leroy, C.;
Jacquemont, M.‐L.;
Doray, B.;
Lamblin, D.;
Cormier‐Daire, V.;
Philippe, A.;
Nusbaum, S.;
Patrat, C.;
Steffann, J.;
Colleaux, L.;
Vekemans, M.;
Romana, S.;
Turleau, C.;
Malan, V.

Publication type:

Article

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 74, doi. 10.1111/cge.12564

By:

Parenti, I.;
Gervasini, C.;
Pozojevic, J.;
Graul‐Neumann, L.;
Azzollini, J.;
Braunholz, D.;
Watrin, E.;
Wendt, K.S.;
Cereda, A.;
Cittaro, D.;
Gillessen‐Kaesbach, G.;
Lazarevic, D.;
Mariani, M.;
Russo, S.;
Werner, R.;
Krawitz, P.;
Larizza, L.;
Selicorni, A.;
Kaiser, F.J.

Publication type:

Article