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2006 1
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36 results

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Page 1
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Malbos M, Vera G, Sheth H, Schnur RE, Juven A, Brehin AC, Sheth J, Gandhi A, Shapiro FL, Bruel AL, Marguet F, Begtrup A, Monaghan KG, Safraou H, Brasseur-Daudruy M, Mau-Them FT, Duffourd Y, Faivre L, Thauvin-Robinet C, Benke PJ, Philippe C. Malbos M, et al. Among authors: brehin ac. Clin Genet. 2024 Dec;106(6):757-763. doi: 10.1111/cge.14608. Epub 2024 Aug 21. Clin Genet. 2024. PMID: 39169672
RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.
Hermida A, Ader F, Millat G, Jedraszak G, Vogel L, Garçon L, Maury P, Fay F, Beyls C, Bréhin AC, Champ-Rigot L, Dauphin C, Dauriat B, De Groote P, Donal E, Dupin-Deguine D, Faivre L, Janin A, Jobbe Duval A, Jondeau G, Laredo M, Magnin I, Marijon E, Nguyen K, Palmyre A, Perani A, Picard F, Reant P, Richard P, Rooryck C, Roubille F, Rouzier C, Toutain A, Vernier A, Winum PF, Scarlatti D, Sacher F, Diouf M, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: brehin ac. Circ Heart Fail. 2025 Mar;18(3):e012492. doi: 10.1161/CIRCHEARTFAILURE.124.012492. Epub 2025 Jan 17. Circ Heart Fail. 2025. PMID: 39823286 No abstract available.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: brehin ac. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Thauvin-Robinet C, Garde A, Favier M, Delanne J, Racine C, Rousseau T, Nambot S, Bruel AL, Moutton S, Quelin C, Colson C, Brehin AC, Guerrot AM, Rooryck C, Putoux A, Blanchet P, Odent S, Schaefer E, Boute O, Goldenberg A, Guichet A, Abel C, Morel G, Fradin M, Isidor B, Vincent M, Francannet C, Vera G, Petit F, Nizon M, Wells C, Jeanne M, Deiller C, Ziegler A, Godin M, Saugier-Veber P, Cassinari K, Blanc P, Simon E, Binquet C, Duffourd Y, Safraou H, Denomme-Pichon AS, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: brehin ac. Eur J Hum Genet. 2025 May;33(5):675-682. doi: 10.1038/s41431-025-01823-y. Epub 2025 Apr 4. Eur J Hum Genet. 2025. PMID: 40186013
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Ader F, Derridj N, Brehin AC, Domanski O, Baudelet JB, Gras P, Kuster A, Benbrik N, Troadec Y, Denjoy I, Bonnefoy R, Beyler C, El Chehadeh S, Schaeffer E, Dupin-Deguine D, Bloch A, Rooryck C, Proukhnitzky J, Bosser G, Vincenti M, Gandjbakhch E, Charron P, Richard P, Bonnet D, Khraiche D. Ader F, et al. Among authors: brehin ac. Int J Cardiol. 2025 Jan 15;419:132729. doi: 10.1016/j.ijcard.2024.132729. Epub 2024 Nov 14. Int J Cardiol. 2025. PMID: 39549770
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Massier M, de Groote P, Donal E, Magnin-Poull I, Coubes C, Le Guillou Horn X, Rooryck C, Réant P, Troadec Y, Bréhin AC, Proukhnitzky J, Gandjbakhch E, Charron P, Richard P, Ader F. Massier M, et al. Among authors: brehin ac. Clin Genet. 2025 Apr;107(4):425-433. doi: 10.1111/cge.14679. Epub 2025 Jan 22. Clin Genet. 2025. PMID: 39844436
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Palmyre A, Koraichi F, Ader F, Donal E, Bordet C, de Groote P, Faivre L, Reant P, Toutain A, Nguyen K, Isidor B, Brehin AC, Legrand L, Gandjbakhch E, Proukhnitzky J, Isnard R, Mansencal N, Pruny JF, Rabes JP, Francou B, Caillaud C, Richard P, Charron P. Palmyre A, et al. Among authors: brehin ac. Orphanet J Rare Dis. 2025 Jun 10;20(1):294. doi: 10.1186/s13023-025-03815-z. Orphanet J Rare Dis. 2025. PMID: 40495216 Free PMC article.
Human genetic determinants of dengue virus susceptibility.
Coffey LL, Mertens E, Brehin AC, Fernandez-Garcia MD, Amara A, Després P, Sakuntabhai A. Coffey LL, et al. Among authors: brehin ac. Microbes Infect. 2009 Feb;11(2):143-56. doi: 10.1016/j.micinf.2008.12.006. Epub 2008 Dec 24. Microbes Infect. 2009. PMID: 19121645 Free article. Review.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: brehin ac. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
36 results