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Severe Neurodevelopmental Phenotype, Diagnostic and Treatment Challenges in Patients with SECISBP2 Deficiency.
Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM. Stoupa A, et al. Among authors: franca mm. Genet Med. 2024 Sep 21:101280. doi: 10.1016/j.gim.2024.101280. Online ahead of print. Genet Med. 2024. PMID: 39315526 Free article.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Grasberger H, Dumitrescu AM, Liao XH, Swanson EG, Weiss RE, Srichomkwun P, Pappa T, Chen J, Yoshimura T, Hoffmann P, França MM, Tagett R, Onigata K, Costagliola S, Ranchalis J, Vollger MR, Stergachis AB, Chong JX, Bamshad MJ, Smits G, Vassart G, Refetoff S. Grasberger H, et al. Among authors: franca mm. Nat Genet. 2024 May;56(5):877-888. doi: 10.1038/s41588-024-01717-7. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714869 Free PMC article.
A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions.
Franca MM, Condezo YB, Elzaiat M, Felipe-Medina N, Sánchez-Sáez F, Muñoz S, Sainz-Urruela R, Martín-Hervás MR, García-Valiente R, Sánchez-Martín MA, Astudillo A, Mendez J, Llano E, Veitia RA, Mendonca BB, Pendás AM. Franca MM, et al. Cell Death Differ. 2022 Dec;29(12):2347-2361. doi: 10.1038/s41418-022-01021-z. Epub 2022 May 27. Cell Death Differ. 2022. PMID: 35624308 Free PMC article.
49 results