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2. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Calmels N; Botta E; Jia N; Fawcett H; Nardo T; Nakazawa Y; Lanzafame M; Moriwaki S; Sugita K; Kubota M; Obringer C; Spitz MA; Stefanini M; Laugel V; Orioli D; Ogi T; Lehmann AR J Med Genet; 2018 May; 55(5):329-343. PubMed ID: 29572252 [TBL] [Abstract][Full Text] [Related]
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9. 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 Eur J Med Genet; 2021 Jan; 64(1):104105. PubMed ID: 33227433 [TBL] [Abstract][Full Text] [Related]
10. Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses. Sanchez-Roman I; Lautrup S; Aamann MD; Neilan EG; Østergaard JR; Stevnsner T Mech Ageing Dev; 2018 Oct; 175():7-16. PubMed ID: 29944916 [TBL] [Abstract][Full Text] [Related]
11. Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification. Scaioli V; D'Arrigo S; Pantaleoni C Brain Dev; 2004 Jun; 26(4):273-80. PubMed ID: 15130695 [TBL] [Abstract][Full Text] [Related]
12. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Colella S; Nardo T; Mallery D; Borrone C; Ricci R; Ruffa G; Lehmann AR; Stefanini M Hum Mol Genet; 1999 May; 8(5):935-41. PubMed ID: 10196384 [TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. Conte C; D'Apice MR; Botta A; Sangiuolo F; Novelli G Genet Test Mol Biomarkers; 2009 Feb; 13(1):127-31. PubMed ID: 19309286 [TBL] [Abstract][Full Text] [Related]
14. Cockayne syndrome: the expanding clinical and mutational spectrum. Laugel V Mech Ageing Dev; 2013; 134(5-6):161-70. PubMed ID: 23428416 [TBL] [Abstract][Full Text] [Related]
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17. Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation. Okur MN; Lee JH; Osmani W; Kimura R; Demarest TG; Croteau DL; Bohr VA Nucleic Acids Res; 2020 Mar; 48(5):2473-2485. PubMed ID: 31970402 [TBL] [Abstract][Full Text] [Related]
18. 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 Neurol India; 2021; 69(2):362-366. PubMed ID: 33904453 [TBL] [Abstract][Full Text] [Related]
19. Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions. Wu Z; Zhu X; Yu Q; Xu Y; Wang Y DNA Repair (Amst); 2019 Nov; 83():102696. PubMed ID: 31546172 [TBL] [Abstract][Full Text] [Related]
20. A possible cranio-oro-facial phenotype in Cockayne syndrome. Bloch-Zupan A; Rousseaux M; Laugel V; Schmittbuhl M; Mathis R; Desforges E; Koob M; Zaloszyc A; Dollfus H; Laugel V Orphanet J Rare Dis; 2013 Jan; 8():9. PubMed ID: 23311583 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]