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Page 1
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P. Cassinari K, et al. Among authors: chambon p. Clin Chem. 2019 Sep;65(9):1153-1160. doi: 10.1373/clinchem.2019.304246. Epub 2019 Jul 10. Clin Chem. 2019. PMID: 31292136
Pitfalls in the use of DGV for CNV interpretation.
Duclos A, Charbonnier F, Chambon P, Latouche JB, Blavier A, Redon R, Frébourg T, Flaman JM. Duclos A, et al. Among authors: chambon p. Am J Med Genet A. 2011 Oct;155A(10):2593-6. doi: 10.1002/ajmg.a.34195. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910227 No abstract available.
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P. Grotto S, et al. Among authors: chambon p. Eur J Med Genet. 2014 Apr;57(5):200-6. doi: 10.1016/j.ejmg.2013.12.012. Epub 2014 Jan 22. Eur J Med Genet. 2014. PMID: 24462886
Chromosomal instability but lack of transformation in human myoblast preparations.
Bisson A, Le Corre S, Joly-Helas G, Chambon P, Demoulins L, Jean L, Adriouch S, Drouot L, Giverne C, Roussel F, Jacquot S, Doucet C, Michot F, Lamacz M, Frébourg T, Flaman JM, Boyer O. Bisson A, et al. Among authors: chambon p. Cell Transplant. 2014;23(12):1475-87. doi: 10.3727/096368913X670192. Cell Transplant. 2014. PMID: 25565635 Free article.
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. Mosca-Boidron AL, et al. Among authors: chambon p. Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395558 Free PMC article.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, Vialard F. Gruchy N, et al. Among authors: chambon p. Prenat Diagn. 2016 Jun;36(6):523-9. doi: 10.1002/pd.4817. Epub 2016 May 10. Prenat Diagn. 2016. PMID: 27018091
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Among authors: chambon p. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Sudrié-Arnaud B, Marguet F, Patrier S, Martinovic J, Louillet F, Broux F, Charbonnier F, Dranguet H, Coutant S, Vezain M, Lanos R, Tebani A, Fuller M, Lamari F, Chambon P, Brehin AC, Trestard L, Tournier I, Marret S, Verspyck E, Laquerrière A, Bekri S. Sudrié-Arnaud B, et al. Among authors: chambon p. Clin Chim Acta. 2018 Jun;481:1-8. doi: 10.1016/j.cca.2018.02.023. Epub 2018 Feb 22. Clin Chim Acta. 2018. PMID: 29476731
1,063 results