Laugel V - Search Results

1

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. Laugel V, et al. Eur J Hum Genet. 2008 Mar;16(3):320-7. doi: 10.1038/sj.ejhg.5201991. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18183039

2

Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.

Laugel V, This-Bernd V, Cormier-Daire V, Speeg-Schatz C, de Saint-Martin A, Fischbach M. Laugel V, et al. Pediatr Neurol. 2007 Jan;36(1):54-7. doi: 10.1016/j.pediatrneurol.2006.08.007. Pediatr Neurol. 2007. PMID: 17162199

3

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR. Kleijer WJ, et al. Among authors: laugel v. DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10. DNA Repair (Amst). 2008. PMID: 18329345

4

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. Nardo T, et al. Among authors: laugel v. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27. Proc Natl Acad Sci U S A. 2009. PMID: 19329487 Free PMC article.

5

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. Bloch-Zupan A, et al. Among authors: laugel v. Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9. Orphanet J Rare Dis. 2013. PMID: 23311583 Free PMC article.

6

Cockayne syndrome: the expanding clinical and mutational spectrum.

Laugel V. 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. Mech Ageing Dev. 2013. PMID: 23428416 Review.

7

Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress.

Kristensen U, Epanchintsev A, Rauschendorf MA, Laugel V, Stevnsner T, Bohr VA, Coin F, Egly JM. Kristensen U, et al. Among authors: laugel v. Proc Natl Acad Sci U S A. 2013 Jun 18;110(25):E2261-70. doi: 10.1073/pnas.1220071110. Epub 2013 Jun 3. Proc Natl Acad Sci U S A. 2013. PMID: 23733932 Free PMC article.

8

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

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D. Frouin E, et al. Among authors: laugel v. JAMA Dermatol. 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. JAMA Dermatol. 2013. PMID: 24154677

9

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V. Gitiaux C, et al. Among authors: laugel v. Clin Neurophysiol. 2015 Jul;126(7):1435-9. doi: 10.1016/j.clinph.2014.10.014. Epub 2014 Oct 20. Clin Neurophysiol. 2015. PMID: 25453614

10

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.

Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: laugel v, laugel haushalter v. Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11. Mol Syndromol. 2014. PMID: 25565929 Free PMC article.

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