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Page 1
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.
Van Haute L, Páleníková P, Tang JX, Nash PA, Simon MT, Pyle A, Oláhová M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M. Van Haute L, et al. Among authors: grotto s. EMBO Mol Med. 2024 Nov 20. doi: 10.1038/s44321-024-00172-5. Online ahead of print. EMBO Mol Med. 2024. PMID: 39567835 Free article.
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Pannier E, Sekri A, Roux N, Vasiljevic A, El Khattabi L, Chatron N, Grotto S, Menzella D, Grangé G, Thébault F, Massardier J, Fourrage C, Lohmann L, Tsatsaris V, Putoux A, Boutaud L, Attié-Bitach T. Pannier E, et al. Among authors: grotto s. Birth Defects Res. 2024 Jul;116(7):e2380. doi: 10.1002/bdr2.2380. Birth Defects Res. 2024. PMID: 38980211
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R, Boutaud L, Loeuillet L, Talhi N, Grotto S, Bourgon N, Feresin A, Coussement A, Barrois M, Beaujard MP, Rambaud T, Razavi F, Attié-Bitach T. Nicolle R, et al. Among authors: grotto s. Eur J Hum Genet. 2024 May;32(5):545-549. doi: 10.1038/s41431-024-01558-2. Epub 2024 Feb 13. Eur J Hum Genet. 2024. PMID: 38351293
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Héron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-Maître S, Plu-Bureau G, El Khattabi L, Bienvenu T. Quilichini J, et al. Among authors: grotto s. Am J Med Genet A. 2024 Apr;194(4):e63479. doi: 10.1002/ajmg.a.63479. Epub 2023 Nov 21. Am J Med Genet A. 2024. PMID: 37987117
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Jordan P, Verebi C, Perol S, Grotto S, Fouveaut C, Christin-Maitre S, de la Perrière AB, Grouthier V, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, El Khattabi L, Bienvenu T. Jordan P, et al. Among authors: grotto s. J Assist Reprod Genet. 2024 Jan;41(1):135-146. doi: 10.1007/s10815-023-02981-y. Epub 2023 Nov 3. J Assist Reprod Genet. 2024. PMID: 37921973 Free PMC article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N. Plaisancié J, et al. Among authors: grotto s. J Med Genet. 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. J Med Genet. 2023. PMID: 37586836
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P; DDD Study; Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Caron V, et al. Among authors: grotto s. Genet Med. 2023 Aug;25(8):100856. doi: 10.1016/j.gim.2023.100856. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092537 Free PMC article.
34 results