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6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
Desch L, Marle N, Mosca-Boidron AL, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, El Chehadeh S, Callier P. Desch L, et al. Among authors: marle n. Mol Cytogenet. 2015 Jun 25;8:42. doi: 10.1186/s13039-015-0151-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26110021 Free PMC article.
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