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Page 1
Renal disease in Cockayne syndrome.
Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A. Stern-Delfils A, et al. Among authors: obringer c. Eur J Med Genet. 2020 Jan;63(1):103612. doi: 10.1016/j.ejmg.2019.01.002. Epub 2019 Jan 7. Eur J Med Genet. 2020. PMID: 30630117
Growth charts in Cockayne syndrome type 1 and type 2.
Baer S, Tuzin N, Kang PB, Mohammed S, Kubota M, van Ierland Y, Busa T, Rossi M, Morel G, Michot C, Baujat G, Durand M, Obringer C, Le May N, Calmels N, Laugel V. Baer S, et al. Among authors: obringer c. Eur J Med Genet. 2021 Jan;64(1):104105. doi: 10.1016/j.ejmg.2020.104105. Epub 2020 Nov 20. Eur J Med Genet. 2021. PMID: 33227433
Diagnostic and severity scores for Cockayne syndrome.
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V. Spitz MA, et al. Among authors: obringer c. Orphanet J Rare Dis. 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. Orphanet J Rare Dis. 2021. PMID: 33536051 Free PMC article.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Le Van Quyen P, Calmels N, Bonnière M, Chartier S, Razavi F, Chelly J, El Chehadeh S, Baer S, Boutaud L, Bacrot S, Obringer C, Favre R, Attié-Bitach T, Laugel V, Antal MC. Le Van Quyen P, et al. Among authors: obringer c. Am J Med Genet A. 2020 May;182(5):1236-1242. doi: 10.1002/ajmg.a.61520. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052936
Clinical and Mutation Spectra of Cockayne Syndrome in India.
Narayanan DL, Tuteja M, McIntyre AD, Hegele RA, Calmels N, Obringer C, Laugel V, Mandal K, Phadke SR. Narayanan DL, et al. Among authors: obringer c. Neurol India. 2021 Mar-Apr;69(2):362-366. doi: 10.4103/0028-3886.314579. Neurol India. 2021. PMID: 33904453 Free article.
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K, Kraoua I, Chikhaoui A, Calmels N, Bouchoucha S, Obringer C, Crochemore C, Najjar D, Zarrouk S, Miladi N, Laugel V, Ricchetti M, Turki I, Yacoub-Youssef H. Zayoud K, et al. Among authors: obringer c. Genes (Basel). 2021 Nov 29;12(12):1922. doi: 10.3390/genes12121922. Genes (Basel). 2021. PMID: 34946871 Free PMC article.
38 results