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Page 1
Fetal intracerebral hemorrhage and cataract: think COL4A1.
Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, Boussion F, Delorme B, Tournier-Lasserve E, Bonneau D. Colin E, et al. Among authors: delorme b. J Perinatol. 2014 Jan;34(1):75-7. doi: 10.1038/jp.2013.135. J Perinatol. 2014. PMID: 24374867
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Tessarech M, Gorce M, Boussion F, Bault JP, Triau S, Charif M, Khiaty S, Delorme B, Guichet A, Ziegler A, Bris C, Laquerrière A, Fallet-Bianco C, Jacquette A, Salhi H, Héron D, Reynier P, Procaccio V, Bonneau D, Colin E. Tessarech M, et al. Among authors: delorme b. Am J Med Genet A. 2020 Mar;182(3):565-569. doi: 10.1002/ajmg.a.61384. Epub 2019 Dec 3. Am J Med Genet A. 2020. PMID: 31793730
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: delorme b. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
Perineal nodular induration: a report of three cases in France.
Grimaux X, Delorme B, Le Clec'h C. Grimaux X, et al. Among authors: delorme b. Int J Dermatol. 2017 Apr;56(4):455-457. doi: 10.1111/ijd.13562. Epub 2017 Feb 15. Int J Dermatol. 2017. PMID: 28198002 No abstract available.
68 results