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Page 1
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G. Blanluet M, et al. Among authors: frebourg t. Am J Med Genet A. 2021 Oct;185(10):3057-3061. doi: 10.1002/ajmg.a.62361. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34043868
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A. Le Meur N, et al. Among authors: frebourg t. Am J Med Genet A. 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. Am J Med Genet A. 2005. PMID: 15810003
[A, not so robertsonian, translocation!].
Amiot J, Layet V, Talbot A, Castelain M, Frebourg T, Chambon P, Le Meur N, Joly Helas G, Cassinari K. Amiot J, et al. Among authors: frebourg t. Ann Biol Clin (Paris). 2021 Jun 1;79(3):261-264. doi: 10.1684/abc.2021.1646. Ann Biol Clin (Paris). 2021. PMID: 34159905 Free article. French. 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: frebourg t. 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
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM, Nicolas G. Lecoquierre F, et al. Among authors: frebourg t. Am J Med Genet A. 2019 Nov;179(11):2257-2262. doi: 10.1002/ajmg.a.61317. Epub 2019 Aug 7. Am J Med Genet A. 2019. PMID: 31390136
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D. Le Meur N, et al. Among authors: frebourg t. J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592390 Free PMC article.
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
de La Rochebrochard C, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T. de La Rochebrochard C, et al. Among authors: frebourg t. Am J Med Genet A. 2006 Jul 15;140(14):1608-13. doi: 10.1002/ajmg.a.31227. Am J Med Genet A. 2006. PMID: 16761289 No abstract available.
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, Drouot N, Le Meur N, Gilbert-Du-Ssardier B, Joly-Hélas G, Moirot H, Rossi A, Tosi M, Frébourg T. Saugier-Veber P, et al. Among authors: frebourg t. Eur J Hum Genet. 2006 Sep;14(9):1009-17. doi: 10.1038/sj.ejhg.5201661. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773131
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: frebourg t. 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.
401 results