Harvard Catalyst Profiles

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Alessandra Mancini, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Mancini A, Magnotto JC, Abreu AP. Genetics of pubertal timing. Best Pract Res Clin Endocrinol Metab. 2022 Jan; 36(1):101618. PMID: 35183440.
    Citations:    Fields:    
  2. Saengkaew T, Ruiz-Babot G, David A, Mancini A, Mariniello K, Cabrera CP, Barnes MR, Dunkel L, Guasti L, Howard SR. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty. NPJ Genom Med. 2021 Dec 20; 6(1):107. PMID: 34930920.
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  3. Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJ, Leprovots M, Hadjidemetriou I, Monti E, David A, Wehkalampi K, Oleari R, Lettieri A, Vezzoli V, Vassart G, Cariboni A, Bonomi M, Garcia MI, Guasti L, Dunkel L. LGR4 deficiency results in delayed puberty through impaired Wnt/ß-catenin signaling. JCI Insight. 2020 06 04; 5(11). PMID: 32493844.
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  4. Hadjidemetriou I, Mariniello K, Ruiz-Babot G, Pittaway J, Mancini A, Mariannis D, Gomez-Sanchez CE, Parvanta L, Drake WM, Chung TT, Abdel-Aziz TE, DiMarco A, Palazzo FF, Wierman ME, Kiseljak-Vassiliades K, King PJ, Guasti L. DLK1/PREF1 marks a novel cell population in the human adrenal cortex. J Steroid Biochem Mol Biol. 2019 10; 193:105422. PMID: 31265901.
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  5. Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Heger S, Lomniczi A, Guasti L, Ojeda SR, Dunkel L. EAP1 regulation of GnRH promoter activity is important for human pubertal timing. Hum Mol Genet. 2019 04 15; 28(8):1357-1368. PMID: 30608578.
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  6. Howard SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr HL, Metherell LA, Sternberg MJ, Cabrera CP, Warren HR, Barnes MR, Quinton R, de Roux N, Young J, Guiochon-Mantel A, Wehkalampi K, André V, Gothilf Y, Cariboni A, Dunkel L. IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty. EMBO Mol Med. 2016 06; 8(6):626-42. PMID: 27137492.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.