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Results: 1 to 20 of 106

1.

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D.

JAMA Dermatol. 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683.

PMID:
24154677
[PubMed - indexed for MEDLINE]
2.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.

Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.

PMID:
11443545
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC.

Am J Hum Genet. 2000 Apr;66(4):1221-8. Epub 2000 Mar 15.

PMID:
10739753
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
10196384
[PubMed - indexed for MEDLINE]
Free Article
5.

Cockayne syndrome: the expanding clinical and mutational spectrum.

Laugel V.

Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70. doi: 10.1016/j.mad.2013.02.006. Epub 2013 Feb 18. Review.

PMID:
23428416
[PubMed - indexed for MEDLINE]
6.

[Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature].

Jabre P, Mezzina M, Megarbane A.

J Med Liban. 1999 Mar-Apr;47(2):144-7. Review. French.

PMID:
10410472
[PubMed - indexed for MEDLINE]
7.

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H.

J Med Genet. 2008 Sep;45(9):564-71. doi: 10.1136/jmg.2007.057141. Epub 2008 Jul 15.

PMID:
18628313
[PubMed - indexed for MEDLINE]
8.

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M.

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.

PMID:
19329487
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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 14;8:9. doi: 10.1186/1750-1172-8-9.

PMID:
23311583
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The mucocutaneous manifestations associated with celiac disease in childhood and adolescence.

Seyhan M, Erdem T, Ertekin V, Selimoğlu MA.

Pediatr Dermatol. 2007 Jan-Feb;24(1):28-33.

PMID:
17300645
[PubMed - indexed for MEDLINE]
11.

ERCC6 founder mutation identified in Finnish patients with COFS syndrome.

Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NG, Shao H, Wu BL, Ignatius J.

Clin Genet. 2010 Dec;78(6):541-7. doi: 10.1111/j.1399-0004.2010.01424.x.

PMID:
20456449
[PubMed - indexed for MEDLINE]
12.

Photosensitivity in children.

Ramsay CA.

Pediatr Clin North Am. 1983 Aug;30(4):687-99. Review. No abstract available.

PMID:
6351001
[PubMed - indexed for MEDLINE]
13.

Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.

Exp Dermatol. 2013 Jul;22(7):486-9. doi: 10.1111/exd.12166.

PMID:
23800062
[PubMed - indexed for MEDLINE]
14.

Skin Signs of Systemic Disease. Foreword.

Bell LM.

Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):191. doi: 10.1016/j.cppeds.2012.03.008. No abstract available.

PMID:
22884023
[PubMed - indexed for MEDLINE]
15.

Skin Signs of Systemic Disease. Introduction.

Yan AC.

Curr Probl Pediatr Adolesc Health Care. 2012 Sep;42(8):192. doi: 10.1016/j.cppeds.2012.07.003. No abstract available.

PMID:
22884024
[PubMed - indexed for MEDLINE]
16.

Evaluation of dermal symptoms in hypothyroidism and hyperthyroidism.

Razi A, Golforoushan F, Nejad AB, Goldust M.

Pak J Biol Sci. 2013 Jun 1;16(11):541-4.

PMID:
24498824
[PubMed - indexed for MEDLINE]
17.

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.

Kleppa L, Kanavin ØJ, Klungland A, Strømme P.

Neuroscience. 2007 Apr 14;145(4):1397-406. Epub 2006 Nov 2.

PMID:
17084038
[PubMed - indexed for MEDLINE]
18.

Sun-induced disorders.

Bickers DR.

Emerg Med Clin North Am. 1985 Nov;3(4):659-76. Review.

PMID:
3902458
[PubMed - indexed for MEDLINE]
19.

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.

Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H.

Eur J Hum Genet. 2008 Mar;16(3):320-7. doi: 10.1038/sj.ejhg.5201991. Epub 2008 Jan 9.

PMID:
18183039
[PubMed - indexed for MEDLINE]
Free Article
20.

Nucleotide excision repair and cancer.

Leibeling D, Laspe P, Emmert S.

J Mol Histol. 2006 Sep;37(5-7):225-38. Epub 2006 Jul 20. Review.

PMID:
16855787
[PubMed - indexed for MEDLINE]

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