| 1 |
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
24
5
|
Callewaert B...De Paepe A
|
22829427 |
2013 |
| 2 |
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
24
5
|
Claus S...Damour O
|
18185537 |
2008 |
| 3 |
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
24
5
|
Hu Q...Urban Z
|
17035250 |
2006 |
| 4 |
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
24
5
|
Loeys B...De Paepe A
|
12189163 |
2002 |
| 5 |
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.
24
5
|
Van Maldergem L...Van Durme P
|
3232707 |
1988 |
| 6 |
Timing, rates and spectra of human germline mutation.
24
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
| 7 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
24
|
Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868 |
2015 |
| 8 |
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
24
|
Kantaputra PN...Dejkhamron P
|
24962763 |
2014 |
| 9 |
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
24
|
Hennies HC...Mundlos S
|
18997784 |
2008 |
| 10 |
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
24
|
Van Maldergem L...Dobyns WB
|
18716235 |
2008 |
| 11 |
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.
24
|
Nanda A...Anim JT
|
18304158 |
2008 |
| 12 |
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
24
|
Kornak U...Mundlos S
|
18157129 |
2008 |
| 13 |
Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology.
24
|
Forgac M
|
17912264 |
2007 |
| 14 |
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
24
|
Elahi E...Loeys B
|
16691202 |
2006 |
| 15 |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
24
|
Hucthagowder V...Urban Z
|
16685658 |
2006 |
| 16 |
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway.
24
|
Hurtado-Lorenzo A...Marshansky V
|
16415858 |
2006 |
| 17 |
Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis.
24
|
Pietrement C...Breton S
|
16192400 |
2006 |
| 18 |
Defective protein glycosylation in patients with cutis laxa syndrome.
24
|
Morava E...Grunewald S
|
15657616 |
2005 |
| 19 |
The De Barsy syndrome.
24
|
Guerra D...Ferrari P
|
15330994 |
2004 |
| 20 |
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
24
|
Markova D...Chu ML
|
12618961 |
2003 |
| 21 |
Cutis laxa with growth and developmental delay.
24
|
Karakurt C...Becer M
|
11491141 |
2001 |
| 22 |
Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion.
24
|
Peters C...Mayer A
|
11214310 |
2001 |
| 23 |
Elastin: mutational spectrum in supravalvular aortic stenosis.
24
|
Metcalfe K...Tassabehji M
|
11175284 |
2000 |
| 24 |
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).
24
|
Zhang MC...Davidson JM
|
9873040 |
1999 |
| 25 |
Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study.
24
|
Ledoux-Corbusier M
|
6630666 |
1983 |
| 26 |
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
62
|
Gharesouran J...Rezazadeh M
|
33509220 |
2021 |
| 27 |
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.
62
|
Tekedereli I...Akinci A
|
30640789 |
2019 |
| 28 |
FBLN5-Related Cutis Laxa
62
|
Van Maldergem L...Loeys B
|
20301756 |
2009 |
