Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Dayna Morel"'
Autor:
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
Abstract Background We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary Hearing Loss Clinic
Externí odkaz:
https://doaj.org/article/ce2d44a8f2df49bea02b040f0748896b
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101150- (2024)
Externí odkaz:
https://doaj.org/article/cb0c31260be149e3949460a30e65702a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Abstract Clinical Description KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short s
Externí odkaz:
https://doaj.org/article/83dad1a30d6349c9b908cfbaaadb5773
Autor:
Saradadevi Thanikachalam, Elizabeth Hodapp, Ta C. Chang, Dayna Morel Swols, Filiz B. Cengiz, Shengru Guo, Mohammad F. Zafeer, Serhat Seyhan, Guney Bademci, William K. Scott, Alana Grajewski, Mustafa Tekin
Publikováno v:
Genes, Vol 11, Iss 4, p 350 (2020)
Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequenc
Externí odkaz:
https://doaj.org/article/65f359cbe931406ba3a40069503f2627
Autor:
Nicholas Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson, Guney Bademci, Mustafa Tekin
Publikováno v:
American Journal of Medical Genetics Part A. 191:1044-1049
Akademický článek
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Autor:
Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné
Publikováno v:
American Journal of Medical Genetics Part A. 185:3446-3458
The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical
Autor:
Paldeep S. Atwal, Kathleen S. Hruska, Anna M. Armitage, Rebecca I. Torene, Monica A. Kundra, Dayna Morel, Neda Ghiam, Irman Forghani, J. William Harbour
Publikováno v:
American Journal of Medical Genetics Part A. 185:208-212
We report the first case of blood chimerism involving a pathogenic RB1 variant in naturally conceived monochorionic-dizygotic twins (MC/DZ) with the twin-twin-transfusion syndrome (TTTS), presumably caused by the exchange of stem-cells. Twin A develo
Autor:
Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Autor:
Swols, Dayna Morel1, Foster II, Joseph2,3, Tekin, Mustafa1,2 mtekin@miami.edu, Morel Swols, Dayna4 (AUTHOR), Foster, Joseph 2nd2,5 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 12/19/2017, Vol. 12, p1-7. 7p.