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A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.
Neurology. 2015.
PMID: 26581302
Free PMC article.
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.
Buffet A, Ben Aim L, Leboulleux S, Drui D, Vezzosi D, Libé R, Ajzenberg C, Bernardeschi D, Cariou B, Chabolle F, Chabre O, Darrouzet V, Delemer B, Desailloud R, Goichot B, Esvant A, Offredo L, Herman P, Laboureau S, Lefebvre H, Pierre P, Raingeard I, Reznik Y, Sadoul JL, Hadoux J, Tabarin A, Tauveron I, Zenaty D, Favier J, Bertherat J, Baudin E, Amar L, Gimenez-Roqueplo AP; French Group of Endocrine Tumors (GTE) and COMETE Network.
Buffet A, et al. Among authors: ben aim l.
J Clin Endocrinol Metab. 2019 Apr 1;104(4):1109-1118. doi: 10.1210/jc.2018-02411.
J Clin Endocrinol Metab. 2019.
PMID: 30698717
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Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, Amar L, Bertherat J, Drui D, Guilhem I, Baudin E, Lussey-Lepoutre C, Corsini C, Chabrier G, Briet C, Faivre L, Cardot-Bauters C, Favier J, Gimenez-Roqueplo AP, Burnichon N.
Ben Aim L, et al.
J Med Genet. 2019 Aug;56(8):513-520. doi: 10.1136/jmedgenet-2018-105714. Epub 2019 Mar 15.
J Med Genet. 2019.
PMID: 30877234
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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.
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.
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