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Page 1
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Koolen DA, et al. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628315 Free PMC article.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, Deconinck N, Brischoux-Boucher E, De Leener A, Revencu N, Janssens S, Moorgat S, Blaumeiser B, Avela K, Touraine R, Abou Jaoude I, Keymolen K, Saugier-Veber P, Lenaerts T, Abramowicz M, Pirson I. Jacquemin V, et al. Hum Genomics. 2023 Mar 2;17(1):16. doi: 10.1186/s40246-023-00464-w. Hum Genomics. 2023. PMID: 36859317 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. 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.
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. 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.
[Genetics of mental retardation].
Goldenberg A, Saugier-Veber P. Goldenberg A, et al. Pathol Biol (Paris). 2010 Oct;58(5):331-42. doi: 10.1016/j.patbio.2009.09.013. Epub 2009 Nov 25. Pathol Biol (Paris). 2010. PMID: 19942372 Review. French.
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.
Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E. Saugier-Veber P, et al. Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369. Am J Med Genet A. 2010. PMID: 20425829
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. 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
123 results