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A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. Rosain J, et al. Among authors: de baere e. J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. J Clin Immunol. 2018. PMID: 29995221 Free PMC article. Review.
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
D'haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP, Keymolen K, Debals E, de Klein A, de Jong EM, Segers K, De Paepe A, Mortier G, Vandesompele J, De Baere E. D'haene B, et al. Among authors: de paepe a, de klein a, de jong em, de schepper j, de baere e. J Clin Endocrinol Metab. 2010 Jun;95(6):3010-8. doi: 10.1210/jc.2009-2218. Epub 2010 Apr 7. J Clin Endocrinol Metab. 2010. PMID: 20375215
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.
Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJM. Zahanova S, et al. Among authors: de baere e. Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1. Clin Dysmorphol. 2012. PMID: 21934608
The clinical diagnosis of BPES is confirmed with demonstration of a FOXL2 mutation, subtle FOXL2 deletion or 3q23 microdeletion, or deletion of the FOXL2 regulatory region (Crisponi et al., 2001; De Baere et al., 2003; Beysen et al., 2005; D'haene et al., 2009). ... …
The clinical diagnosis of BPES is confirmed with demonstration of a FOXL2 mutation, subtle FOXL2 deletion or 3q23 microdeletion, or deletion …
FOXL2 impairment in human disease.
Verdin H, De Baere E. Verdin H, et al. Among authors: de baere e. Horm Res Paediatr. 2012;77(1):2-11. doi: 10.1159/000335236. Epub 2012 Jan 12. Horm Res Paediatr. 2012. PMID: 22248822 Free article. Review.
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. AlMoallem B, et al. Among authors: de leeneer k, de baere e, de zaeytijd j. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. Invest Ophthalmol Vis Sci. 2015. PMID: 25678693
217 results