Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation.

Autor: Finnegan, Rebecca, O'Regan, Mary, White, Máire, Cavalleri, Gianpiero L., Delanty, Norman, Benson, Katherine A., Greally, Marie T.

Publikováno v: Molecular Genetics & Genomic Medicine; Sep2024, Vol. 12 Issue 9, p1-8, 8p

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder.

Autor: Roessler, Franziska, Beck, Anita E., Susie, Ball, Tobias, Bartolomaeus, Begtrup, Amber, Biskup, Saskia, Caluseriu, Oana, Delanty, Norman, Fröhlich, Christine, Greally, Marie T., Karnstedt, Maike, Klöckner, Chiara, Kurtzberg, Joanne, Schubert, Susanna, Schulze, Martin, Weidenbach, Michael, Westphal, Dominik S., White, Maire, Wolf, Cordula M., Zyskind, Jacob

Publikováno v: American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p469-478, 10p

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Autor: Buena-Atienza, Elena, Ruether, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd

Publikováno v: SCIENTIFIC REPORTS
Scientific Reports, 6:28253. Nature Publishing Group
Scientific Reports
Scientific Reports, Nature Publishing Group, 2016, 6 (1), pp.28253. ⟨10.1038/srep28253⟩
Scientific reports, 6. Nature Publishing Group

International audience; X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7512fb03f8d034a529f708bd1538cd5
https://biblio.ugent.be/publication/8099546/file/8099706

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