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Timing, rates and spectra of human germline mutation.
4
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Rahbari R...Hurles ME
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26656846
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2016 |
| 2 |
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
4
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Kantaputra PN...Dejkhamron P
|
24962763
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2014 |
| 3 |
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
4
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Callewaert B...De Paepe A
|
22829427
|
2013 |
| 4 |
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
4
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Hennies HC...Mundlos S
|
18997784
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2008 |
| 5 |
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
4
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Van Maldergem L...Dobyns WB
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18716235
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2008 |
| 6 |
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
4
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Claus S...Damour O
|
18185537
|
2008 |
| 7 |
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
4
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Kornak U...Mundlos S
|
18157129
|
2008 |
| 8 |
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.
4
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Nanda A...Anim JT
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18304158
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2008 |
| 9 |
Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology.
4
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Forgac M
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17912264
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2007 |
| 10 |
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
4
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Hu Q...Urban Z
|
17035250
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2006 |
| 11 |
Elastic fibres in health and disease.
4
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Kielty CM
|
16893474
|
2006 |
| 12 |
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
4
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Elahi E...Loeys B
|
16691202
|
2006 |
| 13 |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
4
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Hucthagowder V...Urban Z
|
16685658
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2006 |
| 14 |
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway.
4
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Hurtado-Lorenzo A...Marshansky V
|
16415858
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2006 |
| 15 |
Distinct expression patterns of different subunit isoforms of the V-ATPase in the rat epididymis.
4
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Pietrement C...Breton S
|
16192400
|
2006 |
| 16 |
Defective protein glycosylation in patients with cutis laxa syndrome.
4
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Morava E...Grunewald S
|
15657616
|
2005 |
| 17 |
The De Barsy syndrome.
4
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Guerra D...Ferrari P
|
15330994
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2004 |
| 18 |
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
4
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Markova D...Chu ML
|
12618961
|
2003 |
| 19 |
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
4
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Loeys B...De Paepe A
|
12189163
|
2002 |
| 20 |
Cutis laxa with growth and developmental delay.
4
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Karakurt C...Becer M
|
11491141
|
2001 |
| 21 |
Trans-complex formation by proteolipid channels in the terminal phase of membrane fusion.
4
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Peters C...Mayer A
|
11214310
|
2001 |
| 22 |
Elastin: mutational spectrum in supravalvular aortic stenosis.
4
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Metcalfe K...Tassabehji M
|
11175284
|
2000 |
| 23 |
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).
4
|
Zhang MC...Davidson JM
|
9873040
|
1999 |
| 24 |
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.
4
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Van Maldergem L...Van Durme P
|
3232707
|
1988 |
| 25 |
Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study.
4
|
Ledoux-Corbusier M
|
6630666
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1983 |
| 26 |
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.
38
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Tekedereli I...Akinci A
|
30640789
|
2019 |
| 27 |
FBLN5-Related Cutis Laxa
38
|
Van Maldergem L...Loeys B
|
20301756
|
2009 |
