Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Susanna Sorrentino"'
Autor:
Patrick Calvas, Susanna Sorrentino, Ahmet Yesilyurt, Consolato Sergi, Dominique Carles, Hülya Kayserili, Ona Faye-Petersen, Dominique Martin-Coignard, Anthony J. Iacovelli, Adeline Vigouroux, Surasak Puvabanditsin, Nicolas Chassaing, Nicholas Katsanis, Philippe Loget, Ethylin Wang Jabs, William A. Paznekas, Férechté Encha-Razavi, Erica E. Davis, Simeon A. Boyadjiev, Catherine Mercer, Bryn D. Webb, Leopoldine Lequeux, Heather C. Etchevers, Chih Ping Chen
Publikováno v:
Journal of Medical Genetics. 49:373-379
Background Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans. Methods and results This stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0df91575575a9a506edf882aae23d0ba
https://doi.org/10.1136/jmedgenet-2012-100892
https://doi.org/10.1136/jmedgenet-2012-100892
Autor:
Tina T. Ling, Susanna Sorrentino
Publikováno v:
American journal of medical genetics. Part A. (1)
Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Since it was first identified in a large consanguineous Arabic family in 2012, additional cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe5d204d3e5488ff0704de442563e0b
https://pubmed.ncbi.nlm.nih.gov/26374271
https://pubmed.ncbi.nlm.nih.gov/26374271
Autor:
Yuri A. Zarate, Megan T. Cho, Melissa K. Gabriel, Tina Barbaro-Dieber, Kyle Retterer, Susanna Sorrentino, Wendy K. Chung, Ilse J. Anderson, Maria J. Guillen Sacoto, Akemi J. Tanaka, Kimihiko Oishi, Lucia Ortega, Alice Basinger, Katie Bosanko, Vikki Stefans, Golder N. Wilson, Rhonda E. Schnur, Rebecca Willaert, Amy Williamson
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e45ee35e7ea9d2a2e0058996a4c90a8
https://doi.org/10.1101/mcs.a002097
https://doi.org/10.1101/mcs.a002097