1 |
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa.
62
24
|
Mauger TF...Patel PJ
|
31194159 |
2019 |
2 |
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.
62
24
|
Letard P...Guimiot F
|
30140196 |
2018 |
3 |
Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.
62
24
|
Hibino M...Usui A
|
29362193 |
2018 |
4 |
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
62
24
|
Hebson C...Kogon B
|
24276535 |
2014 |
5 |
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.
62
24
|
Sawyer SL...Bernier FP
|
23532871 |
2013 |
6 |
Variation among DNA banking consent forms: points for clinicians to bank on.
24
|
Huang SJ...Sternen DL
|
35834113 |
2022 |
7 |
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
24
|
Stenson PD...Cooper DN
|
32596782 |
2020 |
8 |
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.
24
|
Yetman AT...Starr LJ
|
28673110 |
2019 |
9 |
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
24
|
Jonsson H...Stefansson K
|
28959963 |
2017 |
10 |
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
24
|
Sasaki T...von der Mark K
|
27339457 |
2016 |
11 |
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 |
12 |
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.
24
|
Papke CL...Yanagisawa H
|
24613575 |
2014 |
13 |
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
24
|
Takahashi Y...Morisaki T
|
23494979 |
2013 |
14 |
Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.
24
|
Iascone M...Ferrazzi P
|
23212998 |
2012 |
15 |
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
24
|
Kappanayil M...De Paepe A
|
22943132 |
2012 |
16 |
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
24
|
Al-Hassnan ZN...Al-Fayyadh M
|
22440127 |
2012 |
17 |
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.
24
|
Erickson LK...Zhou H
|
22070778 |
2012 |
18 |
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
24
|
Renard M...Loeys BL
|
20389311 |
2010 |
19 |
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
24
|
Hoyer J...Rauch A
|
19664000 |
2009 |
20 |
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
24
|
Dasouki M...Chu ML
|
17937443 |
2007 |
21 |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
24
|
Hucthagowder V...Urban Z
|
16685658 |
2006 |
22 |
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
62
|
Adamo CS...Callewaert B
|
36351433 |
2022 |
23 |
Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa.
62
|
Maghrabi K...Abdelmohsen G
|
34845761 |
2021 |
24 |
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.
62
|
Thomas P...George V
|
34901216 |
2021 |
25 |
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.
62
|
Halabi CM...Mecham RP
|
28508064 |
2017 |
26 |
EFEMP2-Related Cutis Laxa
62
|
Loeys B...Urban Z
|
21563328 |
2011 |