Martha A. Nance, Susan A. Berry: Cockayne syndrome: Review of 140 cases. In: American Journal of Medical Genetics. Band42, Nr.1, 1992, ISSN1096-8628, S.68–84, doi:10.1002/ajmg.1320420115.
Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. In: Genetics in Medicine. Band18, Nr.5, Mai 2016, ISSN1530-0366, S.483–493, doi:10.1038/gim.2015.110, PMID 26204423.
Vincent Laugel: Cockayne syndrome: The expanding clinical and mutational spectrum. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band134, Nr.5, 1. Mai 2013, ISSN0047-6374, S.161–170, doi:10.1016/j.mad.2013.02.006.
L. Pasquier, V. Laugel, L. Lazaro, H. Dollfus, H. Journel: Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. In: Archives of Disease in Childhood. Band91, Nr.2, 1. Februar 2006, ISSN0003-9888, S.178–182, doi:10.1136/adc.2005.080473, PMID 16428367.
Valerie Natale: A comprehensive description of the severity groups in Cockayne syndrome. In: American Journal of Medical Genetics Part A. Band155, Nr.5, 2011, ISSN1552-4833, S.1081–1095, doi:10.1002/ajmg.a.33933.
Catherine A. Neill, Mary M. Dingwall: A Syndrome Resembling Progeria: A Review of Two Cases. In: Archives of Disease in Childhood. Band25, Nr.123, 1. September 1950, ISSN0003-9888, S.213–223, doi:10.1136/adc.25.123.213, PMID 14783428.
Debora Ferri, Donata Orioli, Elena Botta: Heterogeneity and overlaps in nucleotide excision repair disorders. In: Clinical Genetics. Band97, Nr.1, 2020, ISSN1399-0004, S.12–24, doi:10.1111/cge.13545.
Alain J. van Gool, Gijsbertus T. J. van der Horst, Elisabetta Citterio, Jan H. J. Hoeijmakers: Cockayne syndrome: defective repair of transcription? In: The EMBO Journal. Band16, Nr.14, 15. Juli 1997, ISSN0261-4189, S.4155–4162, doi:10.1093/emboj/16.14.4155, PMID 9250659.
Ajoy C. Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L. Croteau, Vilhelm A. Bohr: Cockayne syndrome: Clinical features, model systems and pathways. In: Ageing Research Reviews (= Monogenic Accelerated Aging Disorders with Perturbations to Normal DNA and Chromosome Function). Band33, 1. Januar 2017, ISSN1568-1637, S.3–17, doi:10.1016/j.arr.2016.08.002, PMID 27507608.
Morten Scheibye-Knudsen, Deborah L. Croteau, Vilhelm A. Bohr: Mitochondrial deficiency in Cockayne syndrome. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band134, Nr.5, 1. Mai 2013, ISSN0047-6374, S.275–283, doi:10.1016/j.mad.2013.02.007, PMID 23435289.
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang: The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. In: Pediatric Neurology. Band141, 1. April 2023, ISSN0887-8994, S.79–86, doi:10.1016/j.pediatrneurol.2023.01.011 (sciencedirect.com [abgerufen am 11. April 2023]).
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis: A possible cranio-oro-facial phenotype in Cockayne syndrome. In: Orphanet Journal of Rare Diseases. Band8, Nr.1, 14. Januar 2013, ISSN1750-1172, S.9, doi:10.1186/1750-1172-8-9, PMID 23311583.
Sarah Baer, Nicolas Tuzin, Peter B. Kang, Shehla Mohammed, Masaya Kubota: Growth charts in Cockayne syndrome type 1 and type 2. In: European Journal of Medical Genetics. Band64, Nr.1, Januar 2021, S.104105, doi:10.1016/j.ejmg.2020.104105 (elsevier.com [abgerufen am 4. Februar 2021]).
V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. In: Human Mutation. Band31, Nr.2, 2010, ISSN1098-1004, S.113–126, doi:10.1002/humu.21154.
Brian T. Wilson, Andrew Strong, Sean O’Kelly, Jennifer Munkley, Zornitza Stark: Metronidazole Toxicity in Cockayne Syndrome: A Case Series. In: Pediatrics. Band136, Nr.3, 1. September 2015, ISSN0031-4005, S.e706–e708, doi:10.1542/peds.2015-0531, PMID 26304821.
Isabelle Rapin, Karen Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil N. Merchant: Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case. In: Journal of Child Neurology. Band21, Nr.11, November 2006, ISSN0883-0738, S.991–1006, doi:10.1177/08830738060210110101.
Masaya Kubota, Sayaka Ohta, Aki Ando, Akiko Koyama, Hiroshi Terashima: Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. In: Pediatrics International. Band57, Nr.3, 2015, ISSN1442-200X, S.339–347, doi:10.1111/ped.12635.
Wim J. Kleijer, Vincent Laugel, Mark Berneburg, Tiziana Nardo, Heather Fawcett: Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: DNA Repair. Band7, Nr.5, 3. Mai 2008, ISSN1568-7864, S.744–750, doi:10.1016/j.dnarep.2008.01.014.
Morad Khayat, Hagar Hardouf, Joel Zlotogora, Stavit Allon Shalev: High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. In: American Journal of Medical Genetics Part A. 152A, Nr.12, Dezember 2010, S.3091–3094, doi:10.1002/ajmg.a.33746 (wiley.com [abgerufen am 9. Februar 2021]).
Tzipora C. Falik‐Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor: Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. In: American Journal of Medical Genetics Part A. 146A, Nr.11, 2008, ISSN1552-4833, S.1423–1429, doi:10.1002/ajmg.a.32309 (wiley.com [abgerufen am 9. Februar 2021]).
Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto: Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. In: Cell Reports. Band23, Nr.6, 8. Mai 2018, ISSN2211-1247, S.1612–1619, doi:10.1016/j.celrep.2018.04.041, PMID 29742419.
elsevier.com
linkinghub.elsevier.com
Sarah Baer, Nicolas Tuzin, Peter B. Kang, Shehla Mohammed, Masaya Kubota: Growth charts in Cockayne syndrome type 1 and type 2. In: European Journal of Medical Genetics. Band64, Nr.1, Januar 2021, S.104105, doi:10.1016/j.ejmg.2020.104105 (elsevier.com [abgerufen am 4. Februar 2021]).
Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. In: Genetics in Medicine. Band18, Nr.5, Mai 2016, ISSN1530-0366, S.483–493, doi:10.1038/gim.2015.110, PMID 26204423.
L. Pasquier, V. Laugel, L. Lazaro, H. Dollfus, H. Journel: Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. In: Archives of Disease in Childhood. Band91, Nr.2, 1. Februar 2006, ISSN0003-9888, S.178–182, doi:10.1136/adc.2005.080473, PMID 16428367.
E. A. Cockayne: Dwarfism with Retinal Atrophy and Deafness. In: Archives of Disease in Childhood. Band21, Nr.105, März 1946, ISSN0003-9888, S.52–54, PMC 1987981 (freier Volltext).
Catherine A. Neill, Mary M. Dingwall: A Syndrome Resembling Progeria: A Review of Two Cases. In: Archives of Disease in Childhood. Band25, Nr.123, 1. September 1950, ISSN0003-9888, S.213–223, doi:10.1136/adc.25.123.213, PMID 14783428.
Alain J. van Gool, Gijsbertus T. J. van der Horst, Elisabetta Citterio, Jan H. J. Hoeijmakers: Cockayne syndrome: defective repair of transcription? In: The EMBO Journal. Band16, Nr.14, 15. Juli 1997, ISSN0261-4189, S.4155–4162, doi:10.1093/emboj/16.14.4155, PMID 9250659.
Ajoy C. Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L. Croteau, Vilhelm A. Bohr: Cockayne syndrome: Clinical features, model systems and pathways. In: Ageing Research Reviews (= Monogenic Accelerated Aging Disorders with Perturbations to Normal DNA and Chromosome Function). Band33, 1. Januar 2017, ISSN1568-1637, S.3–17, doi:10.1016/j.arr.2016.08.002, PMID 27507608.
Morten Scheibye-Knudsen, Deborah L. Croteau, Vilhelm A. Bohr: Mitochondrial deficiency in Cockayne syndrome. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band134, Nr.5, 1. Mai 2013, ISSN0047-6374, S.275–283, doi:10.1016/j.mad.2013.02.007, PMID 23435289.
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis: A possible cranio-oro-facial phenotype in Cockayne syndrome. In: Orphanet Journal of Rare Diseases. Band8, Nr.1, 14. Januar 2013, ISSN1750-1172, S.9, doi:10.1186/1750-1172-8-9, PMID 23311583.
Vincent Laugel: Cockayne Syndrome. In: GeneReviews®. University of Washington, Seattle, Seattle (WA) 1993, PMID 20301516 (nih.gov [abgerufen am 31. Mai 2020]).
Brian T. Wilson, Andrew Strong, Sean O’Kelly, Jennifer Munkley, Zornitza Stark: Metronidazole Toxicity in Cockayne Syndrome: A Case Series. In: Pediatrics. Band136, Nr.3, 1. September 2015, ISSN0031-4005, S.e706–e708, doi:10.1542/peds.2015-0531, PMID 26304821.
Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto: Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. In: Cell Reports. Band23, Nr.6, 8. Mai 2018, ISSN2211-1247, S.1612–1619, doi:10.1016/j.celrep.2018.04.041, PMID 29742419.
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang: The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. In: Pediatric Neurology. Band141, 1. April 2023, ISSN0887-8994, S.79–86, doi:10.1016/j.pediatrneurol.2023.01.011 (sciencedirect.com [abgerufen am 11. April 2023]).
Morad Khayat, Hagar Hardouf, Joel Zlotogora, Stavit Allon Shalev: High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. In: American Journal of Medical Genetics Part A. 152A, Nr.12, Dezember 2010, S.3091–3094, doi:10.1002/ajmg.a.33746 (wiley.com [abgerufen am 9. Februar 2021]).
onlinelibrary.wiley.com
Tzipora C. Falik‐Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor: Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. In: American Journal of Medical Genetics Part A. 146A, Nr.11, 2008, ISSN1552-4833, S.1423–1429, doi:10.1002/ajmg.a.32309 (wiley.com [abgerufen am 9. Februar 2021]).
zdb-katalog.de
Martha A. Nance, Susan A. Berry: Cockayne syndrome: Review of 140 cases. In: American Journal of Medical Genetics. Band42, Nr.1, 1992, ISSN1096-8628, S.68–84, doi:10.1002/ajmg.1320420115.
Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. In: Genetics in Medicine. Band18, Nr.5, Mai 2016, ISSN1530-0366, S.483–493, doi:10.1038/gim.2015.110, PMID 26204423.
Vincent Laugel: Cockayne syndrome: The expanding clinical and mutational spectrum. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band134, Nr.5, 1. Mai 2013, ISSN0047-6374, S.161–170, doi:10.1016/j.mad.2013.02.006.
L. Pasquier, V. Laugel, L. Lazaro, H. Dollfus, H. Journel: Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. In: Archives of Disease in Childhood. Band91, Nr.2, 1. Februar 2006, ISSN0003-9888, S.178–182, doi:10.1136/adc.2005.080473, PMID 16428367.
Valerie Natale: A comprehensive description of the severity groups in Cockayne syndrome. In: American Journal of Medical Genetics Part A. Band155, Nr.5, 2011, ISSN1552-4833, S.1081–1095, doi:10.1002/ajmg.a.33933.
E. A. Cockayne: Dwarfism with Retinal Atrophy and Deafness. In: Archives of Disease in Childhood. Band21, Nr.105, März 1946, ISSN0003-9888, S.52–54, PMC 1987981 (freier Volltext).
Catherine A. Neill, Mary M. Dingwall: A Syndrome Resembling Progeria: A Review of Two Cases. In: Archives of Disease in Childhood. Band25, Nr.123, 1. September 1950, ISSN0003-9888, S.213–223, doi:10.1136/adc.25.123.213, PMID 14783428.
Debora Ferri, Donata Orioli, Elena Botta: Heterogeneity and overlaps in nucleotide excision repair disorders. In: Clinical Genetics. Band97, Nr.1, 2020, ISSN1399-0004, S.12–24, doi:10.1111/cge.13545.
Alain J. van Gool, Gijsbertus T. J. van der Horst, Elisabetta Citterio, Jan H. J. Hoeijmakers: Cockayne syndrome: defective repair of transcription? In: The EMBO Journal. Band16, Nr.14, 15. Juli 1997, ISSN0261-4189, S.4155–4162, doi:10.1093/emboj/16.14.4155, PMID 9250659.
Ajoy C. Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L. Croteau, Vilhelm A. Bohr: Cockayne syndrome: Clinical features, model systems and pathways. In: Ageing Research Reviews (= Monogenic Accelerated Aging Disorders with Perturbations to Normal DNA and Chromosome Function). Band33, 1. Januar 2017, ISSN1568-1637, S.3–17, doi:10.1016/j.arr.2016.08.002, PMID 27507608.
Morten Scheibye-Knudsen, Deborah L. Croteau, Vilhelm A. Bohr: Mitochondrial deficiency in Cockayne syndrome. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band134, Nr.5, 1. Mai 2013, ISSN0047-6374, S.275–283, doi:10.1016/j.mad.2013.02.007, PMID 23435289.
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang: The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. In: Pediatric Neurology. Band141, 1. April 2023, ISSN0887-8994, S.79–86, doi:10.1016/j.pediatrneurol.2023.01.011 (sciencedirect.com [abgerufen am 11. April 2023]).
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis: A possible cranio-oro-facial phenotype in Cockayne syndrome. In: Orphanet Journal of Rare Diseases. Band8, Nr.1, 14. Januar 2013, ISSN1750-1172, S.9, doi:10.1186/1750-1172-8-9, PMID 23311583.
V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. In: Human Mutation. Band31, Nr.2, 2010, ISSN1098-1004, S.113–126, doi:10.1002/humu.21154.
Brian T. Wilson, Andrew Strong, Sean O’Kelly, Jennifer Munkley, Zornitza Stark: Metronidazole Toxicity in Cockayne Syndrome: A Case Series. In: Pediatrics. Band136, Nr.3, 1. September 2015, ISSN0031-4005, S.e706–e708, doi:10.1542/peds.2015-0531, PMID 26304821.
Isabelle Rapin, Karen Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil N. Merchant: Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case. In: Journal of Child Neurology. Band21, Nr.11, November 2006, ISSN0883-0738, S.991–1006, doi:10.1177/08830738060210110101.
Masaya Kubota, Sayaka Ohta, Aki Ando, Akiko Koyama, Hiroshi Terashima: Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. In: Pediatrics International. Band57, Nr.3, 2015, ISSN1442-200X, S.339–347, doi:10.1111/ped.12635.
Wim J. Kleijer, Vincent Laugel, Mark Berneburg, Tiziana Nardo, Heather Fawcett: Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: DNA Repair. Band7, Nr.5, 3. Mai 2008, ISSN1568-7864, S.744–750, doi:10.1016/j.dnarep.2008.01.014.
Tzipora C. Falik‐Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor: Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. In: American Journal of Medical Genetics Part A. 146A, Nr.11, 2008, ISSN1552-4833, S.1423–1429, doi:10.1002/ajmg.a.32309 (wiley.com [abgerufen am 9. Februar 2021]).
Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto: Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. In: Cell Reports. Band23, Nr.6, 8. Mai 2018, ISSN2211-1247, S.1612–1619, doi:10.1016/j.celrep.2018.04.041, PMID 29742419.