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Items: 1 to 20 of 97

1.

Biomechanical properties of the skin in cutis laxa.

Kozel BA, Su CT, Danback JR, Minster RL, Madan-Khetarpal S, McConnell JS, Mac Neal MK, Levine KL, Wilson RC, Sciurba FC, Urban Z.

J Invest Dermatol. 2014 Nov;134(11):2836-2838. doi: 10.1038/jid.2014.224. Epub 2014 May 20. No abstract available.

2.

The physical properties of skin in cutis laxa.

Grahame R, Beighton P.

Br J Dermatol. 1971 Apr;84(4):326-9. No abstract available.

PMID:
5575198
3.

Autosomal recessive cutis laxa syndrome revisited.

Morava E, Guillard M, Lefeber DJ, Wevers RA.

Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Review.

4.

The physical properties of skin in cutis laxa.

Grahame R, Beighton P.

Br J Dermatol. 1972 Aug;87(2):176. No abstract available.

PMID:
5057387
5.

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

Kornak U.

Eur J Hum Genet. 2009 Sep;17(9):1097-8. doi: 10.1038/ejhg.2009.59. Epub 2009 Apr 29. No abstract available.

6.

The physical properties of skin in cutis laxa.

Black MM, Shuster S.

Br J Dermatol. 1971 Dec;85(6):598-9. No abstract available.

PMID:
5145425
7.

Skin aging: lessons from cutis laxa and elastoderma.

Fazio MJ, Olsen DR, Uitto JJ.

Cutis. 1989 May;43(5):437-44.

PMID:
2721242
8.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Greally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, Van Maldergem L.

Am J Med Genet A. 2014 May;164A(5):1245-53. doi: 10.1002/ajmg.a.36411. Epub 2014 Jan 29.

PMID:
24478233
9.

In vivo skin biophysical behaviour and surface topography as a function of ageing.

Pailler-Mattei C, Debret R, Vargiolu R, Sommer P, Zahouani H.

J Mech Behav Biomed Mater. 2013 Dec;28:474-83. doi: 10.1016/j.jmbbm.2013.04.008. Epub 2013 Apr 17.

PMID:
23664827
10.

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrió A, Milà M.

Arch Dermatol. 2004 Sep;140(9):1135-9. Review.

PMID:
15381555
11.

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Pezzani L, Calzavara-Pinton P, Colombi M.

J Dermatol Sci. 2014 Jul;75(1):66-8. doi: 10.1016/j.jdermsci.2014.04.004. Epub 2014 Apr 18. No abstract available.

PMID:
24815019
12.

The complexity of elastic fiber biogenesis: the paradigm of cutis laxa.

Urban Z.

J Invest Dermatol. 2012 Nov 15;132(E1):E12-4. doi: 10.1038/skinbio.2012.4. Review. No abstract available.

13.

[Clinical and genetic analysis of a patient with cutis laxa].

Zhang P, Wang X, Gao Z, Liu X, Chen Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):100-103. doi: 10.3760/cma.j.issn.1003-9406.2018.01.023. Chinese.

PMID:
29419872
14.
15.

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z.

J Med Genet. 2006 Mar;43(3):255-8. Epub 2005 Aug 5.

16.

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ.

Hum Mol Genet. 1998 Jun;7(6):1021-8.

PMID:
9580666
17.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z.

Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.

18.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S.

Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23.

PMID:
18157129
19.

[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome].

Tantcheva-Poor I, Schuster A, Kornak U, Chelius K, Mauch C.

Klin Padiatr. 2012 Sep;224(5):322-3. doi: 10.1055/s-0032-1312677. Epub 2012 Jul 20. German. No abstract available.

PMID:
22821296
20.

Physiopathological variations in the mechanical properties of skin.

Pierard GE, Lapière CM.

Arch Dermatol Res. 1977 Dec 27;260(3):231-9.

PMID:
603255

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