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Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: labilloy a. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman N. Tatton-Brown K, et al. Among authors: labilloy a. Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29900417 Free PMC article.
Genetics, TREX1 Mutations.
Hosseini SA, Labilloy A. Hosseini SA, et al. Among authors: labilloy a. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31335009 Free Books & Documents.
CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).
Pereira EM, Silva ASD, Silva RND, Monte Neto JT, Nascimento FFD, Sousa JLM, Costa Filho HCSAL, Sales Filho HLA, Labilloy A, Monte SJHD. Pereira EM, et al. Among authors: labilloy a. J Bras Nefrol. 2018 Oct-Dec;40(4):333-338. doi: 10.1590/2175-8239-JBN-3910. Epub 2018 Jun 4. J Bras Nefrol. 2018. PMID: 29927462 Free PMC article.
Podocyturia in Fabry disease.
Pereira EM, Silva AS, Labilloy A, Monte Neto JT, Monte SJ. Pereira EM, et al. Among authors: labilloy a. J Bras Nefrol. 2016 Mar;38(1):49-53. doi: 10.5935/0101-2800.20160008. J Bras Nefrol. 2016. PMID: 27049364 Free article. English, Portuguese.
New concepts in basement membrane biology.
Halfter W, Oertle P, Monnier CA, Camenzind L, Reyes-Lua M, Hu H, Candiello J, Labilloy A, Balasubramani M, Henrich PB, Plodinec M. Halfter W, et al. Among authors: labilloy a. FEBS J. 2015 Dec;282(23):4466-79. doi: 10.1111/febs.13495. Epub 2015 Sep 21. FEBS J. 2015. PMID: 26299746 Free article. Review.
15 results