| Unbound MEDLINE results for: | Bookmark this site | | Articles related to 15657616 [Unique ID], provided by the PubMed system | |
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| | 1 - 10 of 597 journal articles in the PubMed database | Email to a friend | | |
| Morava E, Wopereis S, Coucke P, et al.
Defective protein glycosylation in patients with cutis laxa syndrome. [Case Reports, Journal Article]
Eur J Hum Genet 2005 Apr; 13(4):414-21.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Wopereis S, Morava E, Grünewald S, et al.
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. [Journal Article]
Biochim Biophys Acta 2005 Jun 30; 1741(1-2):156-64.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Morava E, Lefeber DJ, Urban Z, et al.
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. [JOURNAL ARTICLE]
Eur J Hum Genet 2007 Oct 31.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Morava E, Willemsen MA, Wopereis S, et al.
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. [Case Reports, Journal Article]
Eur J Ophthalmol 2006 Jan-Feb; 16(1):190-4.
Abstract | Full Citation | Find Related Articles | | Loeys B, Van Maldergem L, Mortier G, et al.
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. [Case Reports, Journal Article]
Hum Mol Genet 2002 Sep 1; 11(18):2113-8.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | de Schepper S, Loeys B, de Paepe A, et al.
Cutis laxa of the autosomal recessive type in a consanguineous family. [Case Reports, Journal Article]
Eur J Dermatol 2003 Nov-Dec; 13(6):529-33.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Markova D, Zou Y, Ringpfeil F, et al.
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. [Journal Article]
Am J Hum Genet 2003 Apr; 72(4):998-1004.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Rybojad M, Baumann C, Godeau G, et al.
[Congenital generalized cutis laxa: 5 cases] [Case Reports, Journal Article]
Ann Dermatol Venereol 1999 Apr; 126(4):317-9.
Abstract | Full Citation | Find Related Articles | | Elahi E, Kalhor R, Banihosseini SS, et al.
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. [Journal Article]
J Invest Dermatol 2006 Jul; 126(7):1506-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |   |
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