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Elastin, arterial mechanics, and cardiovascular disease.
Cocciolone AJ, Hawes JZ, Staiculescu MC, Johnson EO, Murshed M, Wagenseil JE. Cocciolone AJ, et al. Am J Physiol Heart Circ Physiol. 2018 Aug 1;315(2):H189-H205. doi: 10.1152/ajpheart.00087.2018. Epub 2018 Apr 6. Am J Physiol Heart Circ Physiol. 2018. PMID: 29631368 Free PMC article. Review.
We present measures of passive arterial mechanics that depend on elastic fiber amounts and integrity such as the Windkessel effect, structural and material stiffness, and energy storage. We discuss supravalvular aortic stenosis and autosomal dominant cutis
We present measures of passive arterial mechanics that depend on elastic fiber amounts and integrity such as the Windkessel effect, structur …
delta(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Marco-Marín C, Escamilla-Honrubia JM, Llácer JL, Seri M, Panza E, Rubio V. Marco-Marín C, et al. J Inherit Metab Dis. 2020 Jul;43(4):657-670. doi: 10.1002/jimd.12220. Epub 2020 Feb 9. J Inherit Metab Dis. 2020. PMID: 32017139 Review.
In 2015 to 2016, an upper motor neuron syndrome (spastic paraparesis/paraplegia SPG9) complicated with some traits of the neurocutaneous syndrome, although without report of cutis laxa, joint laxity, or herniae, was associated with monoallelic or biallelic ALDH18A1 …
In 2015 to 2016, an upper motor neuron syndrome (spastic paraparesis/paraplegia SPG9) complicated with some traits of the neurocutaneous syn …
Elastic fibres in health and disease.
Baldwin AK, Simpson A, Steer R, Cain SA, Kielty CM. Baldwin AK, et al. Expert Rev Mol Med. 2013 Aug 20;15:e8. doi: 10.1017/erm.2013.9. Expert Rev Mol Med. 2013. PMID: 23962539 Review.
Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome …
Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause suprava …
Williams syndrome and related disorders.
Morris CA, Mervis CB. Morris CA, et al. Annu Rev Genomics Hum Genet. 2000;1:461-84. doi: 10.1146/annurev.genom.1.1.461. Annu Rev Genomics Hum Genet. 2000. PMID: 11701637 Review.
Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar aortic stenosis, an autosomal dominant disorder characterized by elastin arteriopathy, is caused by mutation or intragenic de …
Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar …
Costello syndrome: an overview.
Hennekam RC. Hennekam RC. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561057 Review.
The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomat …
The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling c
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Kariminejad A, et al. Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635. Int J Mol Sci. 2017. PMID: 28294978 Free PMC article. Review.
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms