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Page 1
Chronic pain as a presenting feature of dysferlinopathy.
Sanchez-Casado L, Evangelista T, Nectoux J, Verebi C, Stojkovic T. Sanchez-Casado L, et al. Among authors: verebi c. Neuromuscul Disord. 2024 Dec 14;46:105269. doi: 10.1016/j.nmd.2024.105269. Online ahead of print. Neuromuscul Disord. 2024. PMID: 39798170
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Gérard L, et al. Among authors: verebi c. Eur J Hum Genet. 2024 Dec 26. doi: 10.1038/s41431-024-01781-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39725690
Potential New Expression Biomarkers for Anorexia Nervosa.
Verebi C, Lebrun N, Petit JV, Viltart O, Duriez P, Saint-Pierre B, Gorwood P, Ramoz N, Bienvenu T. Verebi C, et al. Am J Med Genet B Neuropsychiatr Genet. 2024 Dec 11:e33018. doi: 10.1002/ajmg.b.33018. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 39660767
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?
Jordan P, Verebi C, Hervé B, Perol S, Bernard V, Karila D, Jali E, Brac de la Perrière A, Grouthier V, Jonard-Catteau S, Touraine P, Fouveaut C, Plu-Bureau G, Michel Dupont J, Bachelot A, Christin-Maitre S, Bienvenu T. Jordan P, et al. Among authors: verebi c. Gene. 2024 Nov 15;927:148734. doi: 10.1016/j.gene.2024.148734. Epub 2024 Jun 26. Gene. 2024. PMID: 38942181 Free article.
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P, Verebi C, Hervé B, Perol S, Chakhtoura Z, Courtillot C, Bachelot A, Karila D, Renard C, Grouthier V, de la Croix SM, Bernard V, Fouveaut C, de la Perrière AB, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, Christin-Maitre S, Bienvenu T. Jordan P, et al. Among authors: verebi c. Clin Genet. 2024 Jul;106(1):102-108. doi: 10.1111/cge.14526. Epub 2024 Apr 1. Clin Genet. 2024. PMID: 38558253
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: verebi c. 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: verebi c. 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.
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Severa G, Pennisi A, Barnerias C, Fiorillo C, Scala M, Taglietti V, Cojocaru AI, Jouni D, Tosca L, Tachdjian G, Desguerre I, Authier FJ, Carlier RY, Metay C, Verebi C, Malfatti E. Severa G, et al. Among authors: verebi c. Neuromuscul Disord. 2023 Oct;33(10):817-821. doi: 10.1016/j.nmd.2023.08.011. Epub 2023 Aug 25. Neuromuscul Disord. 2023. PMID: 37743183
20 results