Search Results - "León, Nayla Y"
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Y chromosome damage underlies testicular abnormalities in ATR-X syndrome
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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ATR-X syndrome: genetics, clinical spectrum, and management
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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3
Genetic control of typical and atypical sex development
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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4
A clinical algorithm to diagnose differences of sex development
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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Monosomía 9p24 secundaria a translocación (2;9) en dos pacientes no relacionadas
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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Monosomy 9p24 in two non-related patients as result of a translocation (2;9)
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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