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topic_facet:"Extracellular Matrix Proteins"
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/vufind/Search/Results?lookfor=%22Megarbane%2C+Andre%22&type=Person&filter%5B%5D=topic_facet%3A%22Extracellular+Matrix+Proteins%22
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PubPharm (12)
1
Raine syndrome : Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
enthalten in:
Prenatal diagnosis
| 2022
von
Rameh, G.
|
Megarbane, A.
|
Jalbout, L.
| +4
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2
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
enthalten in:
European journal of medical genetics
| 2020
von
Bizzari, S.
|
El-Bazzal, L.
|
Nair, P.
| +6
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3
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia
enthalten in:
Bone
| 2014
von
Gannagé-Yared, M.
|
Makrythanasis, P.
|
Chouery, E.
| +7
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4
Molecular genetics of the Usher syndrome in Lebanon : identification of 11 novel protein truncating mutations by whole exome sequencing
enthalten in:
PloS one
| 2014
von
Reddy, R.
|
Fahiminiya, S.
|
El Zir, E.
| +4
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5
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
enthalten in:
American journal of human genetics
| 2011
von
Le Goff, C.
|
Mahaut, C.
|
Wang, L.
| +36
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6
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
enthalten in:
Journal of medical genetics
| 2011
von
Allali, S.
|
Le Goff, C.
|
Pressac-Diebold, I.
| +27
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7
Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case
enthalten in:
The Journal of investigative dermatology
| 2010
von
Debret, R.
|
Cenizo, V.
|
Aimond, G.
| +6
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8
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism
enthalten in:
The Journal of investigative dermatology
| 2009
von
Mégarbané, H.
|
Florence, J.
|
Sass, J.
| +7
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9
Molecular study of 33 families with Fraser syndrome new data and mutation review
enthalten in:
American journal of medical genetics. Part A
| 2008
von
van Haelst, M.
|
Maiburg, M.
|
Baujat, G.
| +39
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10
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model
enthalten in:
The Journal of investigative dermatology
| 2008
von
Claus, S.
|
Fischer, J.
|
Mégarbané, H.
| +8
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Thema: Extracellular Matrix Proteins
Medienart
12
Aufsätze
10
E-Artikel
10
E-Ressourcen
2
Gedruckte Aufsätze
Zeitschriftentitel
3
The Journal of investigative dermatology
2
American journal of human genetics
1
American journal of medical genetics. Part A
1
Bone
1
European journal of medical genetics
1
Journal of medical genetics
1
Nature genetics
1
PloS one
1
Prenatal diagnosis
Alle anzeigen ...
weniger ...
Thema
Extracellular Matrix Proteins
12
Journal Article
9
Research Support, Non-U.S. Gov't
3
Case Reports
3
FBLN5 protein, human
2
EC 2.7.11.1
2
EC 3.6.4.1
2
FRAS1 protein, human
2
Review
1
7Q7P4S7RRE
1
9007-49-2
1
9007-58-3
1
ADAM Proteins
1
ADAMTS Proteins
1
ADAMTS10 protein, human
1
ADGRV1 protein, human
1
Actins
1
Amino Acid Oxidoreductases
1
CDH23 protein, human
1
Cadherin Related Proteins
Alle anzeigen ...
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Erscheinungszeitraum
2
2020-
5
2010-2019
5
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
12
Englisch
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