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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1980 2
1981 3
1982 1
1983 2
1985 2
1986 4
1987 3
1988 3
1989 2
1990 5
1991 3
1992 7
1993 8
1994 8
1995 7
1996 15
1997 10
1998 8
1999 12
2000 12
2001 15
2002 8
2003 11
2004 4
2005 9
2006 18
2007 12
2008 16
2009 8
2010 8
2011 11
2012 9
2013 22
2014 10
2015 9
2016 8
2017 5
2018 10
2019 6
2020 6
2021 10
2022 5
2023 9

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329 results

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Page 1
Cockayne syndrome: Clinical features, model systems and pathways.
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Karikkineth AC, et al. Ageing Res Rev. 2017 Jan;33:3-17. doi: 10.1016/j.arr.2016.08.002. Epub 2016 Aug 6. Ageing Res Rev. 2017. PMID: 27507608 Free PMC article. Review.
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambula …
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neur …
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M. Lehmann AR, et al. Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Orphanet J Rare Dis. 2011. PMID: 22044607 Free PMC article. Review.
These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigmentation changes, different repair defect) and other lentiginoses such as Peutz-Jeghers syndrome, Leopard syndrome …
These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome …
DNA repair mechanisms in dividing and non-dividing cells.
Iyama T, Wilson DM 3rd. Iyama T, et al. DNA Repair (Amst). 2013 Aug;12(8):620-36. doi: 10.1016/j.dnarep.2013.04.015. Epub 2013 May 16. DNA Repair (Amst). 2013. PMID: 23684800 Free PMC article. Review.
Understanding nucleotide excision repair and its roles in cancer and ageing.
Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JH. Marteijn JA, et al. Nat Rev Mol Cell Biol. 2014 Jul;15(7):465-81. doi: 10.1038/nrm3822. Nat Rev Mol Cell Biol. 2014. PMID: 24954209 Review.
Consequently, defects in GG-NER result in cancer predisposition, whereas defects in TC-NER cause a variety of diseases ranging from ultraviolet radiation-sensitive syndrome to severe premature ageing conditions such as Cockayne syndrome. ...
Consequently, defects in GG-NER result in cancer predisposition, whereas defects in TC-NER cause a variety of diseases ranging from ultravio …
Solar UV damage to cellular DNA: from mechanisms to biological effects.
Mullenders LHF . Mullenders LHF . Photochem Photobiol Sci. 2018 Dec 5;17(12):1842-1852. doi: 10.1039/c8pp00182k. Photochem Photobiol Sci. 2018. PMID: 30065996 Review.
Inherited defects in NER are manifested in different diseases including xeroderma pigmentosum (XP), Cockayne syndrome (CS), UV sensitive syndrome (UVsS) and the photosensitive form of trichothiodystrophy (TTD). ...
Inherited defects in NER are manifested in different diseases including xeroderma pigmentosum (XP), Cockayne syndrome (CS), UV …
Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.
Donzuso G, Mostile G, Nicoletti A, Zappia M. Donzuso G, et al. Neurol Sci. 2019 Nov;40(11):2251-2263. doi: 10.1007/s10072-019-03998-x. Epub 2019 Jul 2. Neurol Sci. 2019. PMID: 31267306 Free PMC article. Review.
On the other hand, secondary forms, also identified as Fahr's syndrome, have been associated with different conditions: endocrine abnormalities of PTH, such as hypoparathyroidism, other genetically determined conditions, brain infections, or toxic exposure. ...
On the other hand, secondary forms, also identified as Fahr's syndrome, have been associated with different conditions: endocrine abn …
DNA damage, aging, and cancer.
Hoeijmakers JH. Hoeijmakers JH. N Engl J Med. 2009 Oct 8;361(15):1475-85. doi: 10.1056/NEJMra0804615. N Engl J Med. 2009. PMID: 19812404 Review. No abstract available.
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O. Suzumura H, et al. Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. Adv Exp Med Biol. 2010. PMID: 20687508 Review.
In COFS syndrome, as in Cockayne syndrome, DNA repair is impaired in the transcription-coupled NER pathway, but not in the global genome NER pathway. Fourteen cases so far described as COFS syndrome have been studied at the molecular levels. All mutati …
In COFS syndrome, as in Cockayne syndrome, DNA repair is impaired in the transcription-coupled NER pathway, but not in …
Xeroderma pigmentosum-Cockayne syndrome complex.
Natale V, Raquer H. Natale V, et al. Orphanet J Rare Dis. 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. Orphanet J Rare Dis. 2017. PMID: 28376890 Free PMC article. Review.
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). ...We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the …
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, …
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J. Arora H, et al. Int J Dermatol. 2014 Jul;53(7):798-802. doi: 10.1111/ijd.12408. Epub 2014 Mar 6. Int J Dermatol. 2014. PMID: 24602044 Review.
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. ...Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as …
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the …
329 results