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635 results

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Page 1
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L. Chevarin M, et al. Among authors: a barnard r, goldenberg a. J Med Genet. 2020 Jul;57(7):466-474. doi: 10.1136/jmedgenet-2019-106425. Epub 2020 Apr 10. J Med Genet. 2020. PMID: 32277047
Facial appearance in persistent hyperinsulinemic hypoglycemia.
de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, Saudubray JM. de Lonlay P, et al. Among authors: goldenberg a. Am J Med Genet. 2002 Aug 1;111(2):130-3. doi: 10.1002/ajmg.10463. Am J Med Genet. 2002. PMID: 12210338
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: goldenberg a. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: goldenberg a. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.
Werner mesomelic dysplasia with Hirschsprung disease.
Goldenberg A, Milh M, de Lagausie P, Mesnage R, Benarif F, de Blois MC, Munnich A, Lyonnet S, Cormier-Daire V. Goldenberg A, et al. Am J Med Genet A. 2003 Dec 1;123A(2):186-9. doi: 10.1002/ajmg.a.20285. Am J Med Genet A. 2003. PMID: 14598345
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chrétien D, Lefrançois C, Geromel V, Rötig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Bérard E. Goldenberg A, et al. Pediatr Nephrol. 2005 Apr;20(4):465-9. doi: 10.1007/s00467-004-1725-4. Epub 2005 Jan 29. Pediatr Nephrol. 2005. PMID: 15682315
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Thauvin-Robinet C, et al. Among authors: goldenberg a. J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672. J Med Genet. 2006. PMID: 16397067 Free PMC article.
635 results