| Unbound MEDLINE results for: | Bookmark this site | | Articles related to 16685658 [Unique ID], provided by the PubMed system | |
| |
|
| | 1 - 10 of 115 journal articles in the PubMed database | Email to a friend | | |
| Hucthagowder V, Sausgruber N, Kim KH, et al.
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. [Journal Article]
Am J Hum Genet 2006 Jun; 78(6):1075-80.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Hu Q, Loeys BL, Coucke PJ, et al.
FIBULIN-5 MUTATIONS: MECHANISMS OF IMPAIRED ELASTIC FIBER FORMATION IN RECESSIVE CUTIS LAXA. [JOURNAL ARTICLE]
Hum Mol Genet 2006 Oct 11.
Abstract | Full Citation | | 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 | | 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 | | 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 | | 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 | | Hu Q, Reymond JL, Pinel N, et al.
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. [Case Reports, Journal Article]
J Invest Dermatol 2006 Feb; 126(2):283-90.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Claus S, Fischer J, Mégarbané H, et al.
A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model. [JOURNAL ARTICLE]
J Invest Dermatol 2008 Jan 10.
Abstract | Full Citation | Find Related Articles | | Dasouki M, Markova D, Garola R, et al.
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. [JOURNAL ARTICLE]
Am J Med Genet A 2007 Oct 15.
Abstract | Full Citation | Find Related Articles |   |
|
| |
Advertise on this site.
|
New! 