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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A. Saugier-Veber P, et al. Among authors: goldenberg a. Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. Acta Neuropathol Commun. 2017. PMID: 28460636 Free PMC article.
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
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.
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. Guilmatre A, et al. Among authors: goldenberg a. Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Arch Gen Psychiatry. 2009. PMID: 19736351 Free PMC article. Review.
[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.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Among authors: goldenberg a. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099
659 results