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Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, Barlier A. Mougel G, et al. Among authors: mohamed a. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N. Ben Aim L, et al. Among authors: mohamed a. J Med Genet. 2022 Aug;59(8):785-792. doi: 10.1136/jmedgenet-2020-107652. Epub 2021 Aug 27. J Med Genet. 2022. PMID: 34452955 Free PMC article.
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D. Lebeault M, et al. Among authors: mohamed a. Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3. Thyroid. 2017. PMID: 28946813
Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.
Lagarde A, Mougel G, Coppin L, Haissaguerre M, Le Collen L, Mohamed A, Klein M, Odou MF, Tabarin A, Brixi H, Cuny T, Delemer B, Barlier A, Romanet P. Lagarde A, et al. Among authors: mohamed a. Endocr Connect. 2022 Oct 14;11(11):e220093. doi: 10.1530/EC-22-0093. Print 2022 Nov 1. Endocr Connect. 2022. PMID: 36112497 Free PMC article.
Somatostatin receptor sst2 gene transfer in human prolactinomas in vitro: impact on sensitivity to dopamine, somatostatin and dopastatin, in the control of prolactin secretion.
Cuny T, Mohamed A, Graillon T, Roche C, Defilles C, Germanetti AL, Couderc B, Figarella-Branger D, Enjalbert A, Barlier A, Saveanu A. Cuny T, et al. Among authors: mohamed a. Mol Cell Endocrinol. 2012 May 15;355(1):106-13. doi: 10.1016/j.mce.2012.01.026. Epub 2012 Feb 14. Mol Cell Endocrinol. 2012. PMID: 22348806
4,802 results