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Page 1
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A, Perouse de Montclos T, Nguyen K, Consolino E, Nadeau G, Rey G, Bouchot O, Blanchet P, Sabbagh Q, Cazeneuve C, El-Malti R, Morel E, Delinière A, Chevalier P, Millat G. Janin A, et al. Among authors: nguyen k. Mol Diagn Ther. 2022 Sep;26(5):551-560. doi: 10.1007/s40291-022-00604-3. Epub 2022 Jul 15. Mol Diagn Ther. 2022. PMID: 35838873
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.
Richard P, Ader F, Roux M, Donal E, Eicher JC, Aoutil N, Huttin O, Selton-Suty C, Coisne D, Jondeau G, Damy T, Mansencal N, Casalta AC, Michel N, Haentjens J, Faivre L, Lavoute C, Nguyen K, Tregouët DA, Habib G, Charron P. Richard P, et al. Among authors: nguyen k. Clin Genet. 2019 Mar;95(3):356-367. doi: 10.1111/cge.13484. Epub 2018 Dec 27. Clin Genet. 2019. PMID: 30471092 Free article.
Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.
Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, Rooryck C, Charron P, Richard P, Casalta AC, Michel N, Magdinier F, Béroud C, Lévy N, Habib G. Nguyen K, et al. Circ Genom Precis Med. 2019 May;12(5):e002500. doi: 10.1161/CIRCGEN.119.002500. Circ Genom Precis Med. 2019. PMID: 31112424 Free article. No abstract available.
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Depienne C, et al. Among authors: nguyen k. J Med Genet. 2007 Apr;44(4):281-4. doi: 10.1136/jmg.2006.046425. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098887 Free PMC article.
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N. Krahn M, et al. Among authors: nguyen k. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. Hum Mutat. 2009. PMID: 18853459
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network. Clot F, et al. Among authors: nguyen k. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. Brain. 2009. PMID: 19491146
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A. Tezenas du Montcel S, et al. Arch Neurol. 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. Arch Neurol. 2012. PMID: 22491195
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: nguyen k. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.
4,078 results