Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nayla Y León"'
Autor:
Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley
Publikováno v:
iScience, Vol 27, Iss 5, Pp 109629- (2024)
Summary: ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects
Externí odkaz:
https://doaj.org/article/cc8b6960af0b463f8a197a663dae71ef
Publikováno v:
Nature Reviews Urology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43d020172ccede90ce322d5b7355d8cb
https://doi.org/10.1038/s41585-023-00754-x
https://doi.org/10.1038/s41585-023-00754-x
Autor:
Vincent R. Harley, Nayla Y León
Publikováno v:
Human Genetics. 140:1625-1634
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b934f730c0dbcc2f75674bfc06f8bd7
https://doi.org/10.1007/s00439-021-02361-5
https://doi.org/10.1007/s00439-021-02361-5
Autor:
Nayla Y, León, Vincent R, Harley
Publikováno v:
Human genetics. 140(12)
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5a361a0900cb70e4f1e7e94ef2e6375
https://pubmed.ncbi.nlm.nih.gov/34524523
https://pubmed.ncbi.nlm.nih.gov/34524523
Publikováno v:
Yearbook of Paediatric Endocrinology.
Summary The diagnosis and management of children born with ambiguous genitalia is challenging for clinicians. Such differences of sex development (DSDs) are congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. The aetio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cb9994209415cbf9203f8c0270b0e3
https://doi.org/10.1530/ey.17.6.2
https://doi.org/10.1530/ey.17.6.2
Autor:
Constanza García-Delgado, Carlos Serrano-Bello, Verónica F Morán Barroso, Alicia Cervantes, Nayla Y León-Carlos, Ariadna Berenice Morales-Jiménez
Publikováno v:
Archivos Argentinos de Pediatria. 116
In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ec6b075c32ce4e604978aa52eace88e
https://doi.org/10.5546/aap.2018.e603
https://doi.org/10.5546/aap.2018.e603
Autor:
Nayla Y, León-Carlos, Constanza, García-Delgado, Ariadna B, Morales-Jiménez, Carlos, Serrano-Bello, Alicia, Cervantes, Verónica F, Morán Barroso
Publikováno v:
Archivos argentinos de pediatria. 116(4)
In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae3549043ec356817cbca0983bad8740
https://pubmed.ncbi.nlm.nih.gov/30016040
https://pubmed.ncbi.nlm.nih.gov/30016040