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Page 1
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, Badreddine A, Derhourhi M, Mouhoub TA, Jouret G, Juttet P, Souchon PF, Vaxillaire M, Froguel P, Bonnefond A, Doco Fenzy M. Le Collen L, et al. Orphanet J Rare Dis. 2022 Feb 28;17(1):86. doi: 10.1186/s13023-022-02248-2. Orphanet J Rare Dis. 2022. PMID: 35227307 Free PMC article.
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Coppin L, Giraud S, Pasmant E, Lagarde A, North MO, Le-Collen L, Aubert V, Mougel G, Ladsous M, Louboutin A, Brixi H, Haissaguerre M, Scheyer N, Klein M, Tabarin A, Delemer B, Barlier A, Odou MF, Romanet P. Coppin L, et al. Among authors: le collen l. Eur J Endocrinol. 2022 May 24;187(1):K1-K6. doi: 10.1530/EJE-22-0171. Eur J Endocrinol. 2022. PMID: 35521764 Review.
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: le collen l. 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.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, Badreddine A, Boissel M, Derhourhi M, Clément K, Petit JM, Mau-Them FT, Bruel AL, Thauvin-Robinet C, Saveanu A, Cherifi BG, Le Beyec-Le Bihan J, Froguel P, Bonnefond A. Le Collen L, et al. Genet Med. 2023 Jul;25(7):100857. doi: 10.1016/j.gim.2023.100857. Epub 2023 Apr 21. Genet Med. 2023. PMID: 37092539 Free article.
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Branzoli F, Salgues B, Marjańska M, Laloi-Michelin M, Herman P, Le Collen L, Delemer B, Riancho J, Kuhn E, Jublanc C, Burnichon N, Amar L, Favier J, Gimenez-Roqueplo AP, Buffet A, Lussey-Lepoutre C. Branzoli F, et al. Among authors: le collen l. Endocr Relat Cancer. 2023 Jan 5;30(2):e220198. doi: 10.1530/ERC-22-0198. Print 2023 Feb 1. Endocr Relat Cancer. 2023. PMID: 36449569 Free PMC article.
Monoallelic pathogenic variants in LEPR do not cause obesity.
Delplanque J, Le Collen L, Loiselle H, Leloire A, Toussaint B, Vaillant E, Charpentier G, Franc S, Balkau B, Marre M, Henriques E, Buse Falay E, Derhourhi M, Froguel P, Bonnefond A. Delplanque J, et al. Among authors: le collen l. Am J Hum Genet. 2024 Dec 5;111(12):2668-2674. doi: 10.1016/j.ajhg.2024.10.014. Epub 2024 Nov 18. Am J Hum Genet. 2024. PMID: 39561769 Clinical Trial.
21 results