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Page 1
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: nadeau g. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.
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: nadeau g. 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
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Schluth-Bolard C, et al. Among authors: nadeau g. J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28. J Med Genet. 2019. PMID: 30923172
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L. Lehalle D, et al. Among authors: nadeau g. Am J Med Genet A. 2022 Jul;188(7):2036-2047. doi: 10.1002/ajmg.a.62739. Epub 2022 Apr 21. Am J Med Genet A. 2022. PMID: 35445792 Review.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: nadeau g. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.
Penther D, Etancelin P, Lusina D, Bidet A, Quilichini B, Gaillard B, Rafdord-Weiss I, Mozziconacci MJ, Ittel A, Roche-Lestienne C, Barin C, Soler G, Daudignon A, Nadal N, Chapiro E, Lefebvre C, Godon C, Nadeau G, Mugneret F, Richebourg S, Viailly PJ, Ferret Y, Nguyen-Khac F, Eclache V; Groupe Francophone de Cytogénétique Hématologique. Penther D, et al. Among authors: nadeau g. Am J Hematol. 2019 Nov;94(11):E285-E288. doi: 10.1002/ajh.25601. Epub 2019 Aug 26. Am J Hematol. 2019. PMID: 31379011 Free article. No abstract available.
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, Belaud-Rotureau MA, Schluth-Bolard C, Vialard F. Capron C, et al. Among authors: nadeau g. Andrology. 2022 Nov;10(8):1625-1631. doi: 10.1111/andr.13279. Epub 2022 Sep 7. Andrology. 2022. PMID: 36026611 Free article.
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J. Schluth-Bolard C, et al. Among authors: nadeau g. Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6. Eur J Med Genet. 2009. PMID: 19505601 Free article.
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.
Daccord C, Cottin V, Prévot G, Uzunhan Y, Mornex JF, Bonniaud P, Borie R, Briault A, Collonge-Rame MA, Crestani B, Devouassoux G, Freynet O, Gondouin A, Hauss PA, Khouatra C, Leroy S, Marchand-Adam S, Marquette C, Montani D, Naccache JM, Nadeau G, Poulalhon N, Reynaud-Gaubert M, Salaun M, Wallaert B, Cordier JF, Faouzi M, Lazor R; OrphaLung network. Daccord C, et al. Among authors: nadeau g. Orphanet J Rare Dis. 2020 May 24;15(1):120. doi: 10.1186/s13023-020-01402-y. Orphanet J Rare Dis. 2020. PMID: 32448321 Free PMC article.
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C. Mortreux J, et al. Among authors: nadeau g. Eur J Hum Genet. 2018 Jan;26(1):143-148. doi: 10.1038/s41431-017-0018-x. Epub 2017 Nov 29. Eur J Hum Genet. 2018. PMID: 29187737 Free PMC article.
171 results