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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. Among authors: philippe c. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. Cossée M, et al. Among authors: philippe c. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785. Am J Med Genet A. 2011. PMID: 21204215
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Béri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P. Beneteau C, et al. Among authors: philippe c. J Med Genet. 2011 Sep;48(9):635-9. doi: 10.1136/jmedgenet-2011-100008. Epub 2011 May 26. J Med Genet. 2011. PMID: 21617255
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
Bonnet C, Masurel-Paulet A, Khan AA, Béri-Dexheimer M, Callier P, Mugneret F, Philippe C, Thauvin-Robinet C, Faivre L, Jonveaux P. Bonnet C, et al. Among authors: philippe c. Hum Mutat. 2012 Feb;33(2):355-8. doi: 10.1002/humu.21649. Epub 2011 Nov 28. Hum Mutat. 2012. PMID: 22124977 Retracted.
545 results