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

Results: 22

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
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
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
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
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
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
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
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
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
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
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
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