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Page 1
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. Smol T, et al. Among authors: goldenberg a. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
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: goldenberg a. 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
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: goldenberg a. 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
A cryopyrin-associated periodic syndrome with joint destruction.
Lequerré T, Vittecoq O, Saugier-Veber P, Goldenberg A, Patoz P, Frébourg T, Le Loët X. Lequerré T, et al. Among authors: goldenberg a. Rheumatology (Oxford). 2007 Apr;46(4):709-14. doi: 10.1093/rheumatology/kel399. Epub 2006 Dec 18. Rheumatology (Oxford). 2007. PMID: 17178739
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: goldenberg a. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.
Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.
Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Among authors: goldenberg a. Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14. Eur J Med Genet. 2008. PMID: 18222743
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: goldenberg a. 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.
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Muller J, et al. Among authors: goldenberg a. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Hum Genet. 2010. PMID: 20177705 Free PMC article.
656 results