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[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C. Renouil M, et al. Among authors: jacquemont ml. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. Rev Neurol (Paris). 2013. PMID: 24011642 French.
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V. Cartault F, et al. Among authors: jacquemont ml. Eur J Hum Genet. 2015 Jan;23(1):49-53. doi: 10.1038/ejhg.2014.60. Epub 2014 Apr 23. Eur J Hum Genet. 2015. PMID: 24755949 Free PMC article.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S. Lerat J, et al. Among authors: jacquemont ml. Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30298622
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Heide S, et al. Among authors: jacquemont ml. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906476 Free article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Fiore M, De Thoré C, Randrianaivo-Ranjatoelina H, Baas MJ, Jacquemont ML, Dreyfus M, Lavenu-Bombled C, Li R, Gachet C, Dupuis A, Lanza F. Fiore M, et al. Among authors: jacquemont ml. Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30. Br J Haematol. 2020. PMID: 31997307 Free PMC article. No abstract available.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J. Gouronc A, et al. Among authors: jacquemont ml. Clin Genet. 2020 Aug;98(2):166-171. doi: 10.1111/cge.13768. Epub 2020 Jun 22. Clin Genet. 2020. PMID: 32361989
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J. Alessandri JL, et al. Among authors: jacquemont ml. Eur J Med Genet. 2024 Jun;69:104940. doi: 10.1016/j.ejmg.2024.104940. Epub 2024 May 3. Eur J Med Genet. 2024. PMID: 38705458 Free article.
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. Démurger F, et al. Among authors: jacquemont ml. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736735 Free PMC article.
75 results