Search Results - "León, Nayla Y"

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  1. 1

    Y chromosome damage underlies testicular abnormalities in ATR-X syndrome by León, Nayla Y., Le, Thanh Nha Uyen, Garvie, Andrew, Wong, Lee H., Bagheri-Fam, Stefan, Harley, Vincent R.

    Published in iScience (17-05-2024)
    “…ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes…”
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    Journal Article
  2. 2

    ATR-X syndrome: genetics, clinical spectrum, and management by León, Nayla Y., Harley, Vincent R.

    Published in Human genetics (01-12-2021)
    “…ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by…”
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    Journal Article
  3. 3

    Genetic control of typical and atypical sex development by Reyes, Alejandra P., León, Nayla Y., Frost, Emily R., Harley, Vincent R.

    Published in Nature reviews. Urology (01-07-2023)
    “…Sex development relies on the sex-specific action of gene networks to differentiate the bipotential gonads of the growing fetus into testis or ovaries,…”
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    Journal Article
  4. 4

    A clinical algorithm to diagnose differences of sex development by León, Nayla Y, Reyes, Alejandra P, Harley, Vincent R

    Published in The lancet. Diabetes & endocrinology (01-07-2019)
    “…The diagnosis and management of children born with ambiguous genitalia is challenging for clinicians. Such differences of sex development (DSDs) are congenital…”
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    Journal Article
  5. 5

    Monosomía 9p24 secundaria a translocación (2;9) en dos pacientes no relacionadas by León-Carlos, Nayla Y, García-Delgado, Constanza, Morales-Jiménez, Ariadna B, Serrano-Belld, Carlos, Cervantes, M. en C. Alicia, Morán Barroso, Verónica F

    Published in Archivos argentinos de pediatría (01-08-2018)
    “…En pacientes con malformaciones congénitas y retraso del desarrollo psicomotor, deben descartarse cromosomopatías. Las más frecuentes son las translocaciones…”
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    Journal Article
  6. 6

    Monosomy 9p24 in two non-related patients as result of a translocation (2;9) by León-Carlos, Nayla Y, García-Delgado, Constanza, Morales-Jiménez, Ariadna B, Serrano-Bello, Carlos, Cervantes, Alicia, Morán Barroso, Verónica F

    Published in Archivos argentinos de pediatría (01-08-2018)
    “…In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the…”
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    Journal Article