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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: marle n. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F. Callier P, et al. Among authors: marle n. Eur J Med Genet. 2007 Nov-Dec;50(6):455-64. doi: 10.1016/j.ejmg.2007.06.004. Epub 2007 Jul 20. Eur J Med Genet. 2007. PMID: 17720646
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: marle n. Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447. Am J Med Genet A. 2008. PMID: 18629884
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.
Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F. Mosca AL, et al. Among authors: marle n. Am J Med Genet A. 2009 Mar;149A(3):475-81. doi: 10.1002/ajmg.a.32665. Am J Med Genet A. 2009. PMID: 19213026
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.
Callier P, Faivre L, Marle N, Thauvin-Robinet C, Guy J, Mosca AL, D'Athis P, Masurel-Paulet A, Assous D, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: marle n. Am J Med Genet A. 2009 Jun;149A(6):1323-6. doi: 10.1002/ajmg.a.32857. Am J Med Genet A. 2009. PMID: 19449416 No abstract available.
61 results