Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements

Autor: Ibrahim Kalelioglu, Recep Has, Atıl Yüksel, Seher Başaran, Birsen Karaman, NB Satkin, Hülya Kayserili, S Ergin

Publikováno v: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507a9afefccb296048e0a96f99f32d61
http://europepmc.org/articles/PMC8009573

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Autor: Schaffer AE; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Eggens VR; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands., Caglayan AO; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Reuter MS; Institute of Human Genetics, Universität Erlangen-Nürnberg, Schwabachanlage 10, Erlangen 91054, Germany., Scott E; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Coufal NG; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Silhavy JL; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Xue Y; Cellular Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA., Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Fatih/Istanbul, Turkey., Yasuno K; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Rosti RO; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Abdellateef M; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Caglar C; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Kasher PR; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands., Cazemier JL; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands., Weterman MA; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands., Cantagrel V; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Institut IMAGINE, INSERM U1163, Faculté Paris-Descartes, 75015 Paris, France., Cai N; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Zweier C; Institute of Human Genetics, Universität Erlangen-Nürnberg, Schwabachanlage 10, Erlangen 91054, Germany., Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Fatih/Istanbul, Turkey., Satkin NB; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Fatih/Istanbul, Turkey., Aktar F; Department of Pediatrics, Diyarbakir State Hospital, 21100 Diyarbakir, Turkey., Tuysuz B; Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, 34098 Istanbul, Turkey., Yalcinkaya C; Department of Neurology, Division of Child Neurology, Cerrahpaşa Medical School, Istanbul University, 34098 Istanbul, Turkey., Caksen H; Department of Pediatrics, Meram Medical School, Necmettin Erbakan University, 42080 Konya, Turkey., Bilguvar K; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Fu XD; Cellular Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA., Trotta CR; PTC Therapeutics, South Plainfield, NJ 07080, USA., Gabriel S; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA., Reis A; Institute of Human Genetics, Universität Erlangen-Nürnberg, Schwabachanlage 10, Erlangen 91054, Germany., Gunel M; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Baas F; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands., Gleeson JG; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: jogleeson@ucsd.edu.

Publikováno v: Cell [Cell] 2014 Apr 24; Vol. 157 (3), pp. 651-63.