| 1 |
Fibrillin protein pleiotropy: Acromelic dysplasias.
61
|
Sakai LY...Keene DR
|
30219651 |
2019 |
| 2 |
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
61
|
Cheng SW...Chung BH
|
29191498 |
2018 |
| 3 |
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.
61
|
Globa E...Dauber A
|
30057829 |
2018 |
| 4 |
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
61
|
Li D...Yang Y
|
28917829 |
2017 |
| 5 |
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
61
|
Newell K...Lindsay ME
|
28696036 |
2017 |
| 6 |
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
61
|
Rama G...Krishnan U
|
28077185 |
2017 |
| 7 |
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
61
|
McInerney-Leo AM...Cormier-Daire V
|
27068007 |
2016 |
| 8 |
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
61
|
de Bruin C...Jorge AA
|
27245183 |
2016 |
| 9 |
Dullard/Ctdnep1 regulates endochondral ossification via suppression of TGF-β signaling.
61
|
Hayata T...Noda M
|
25155999 |
2015 |
| 10 |
Chondrodysplasias and TGFβ signaling.
61
|
Le Goff C...Cormier-Daire V
|
25798233 |
2015 |
| 11 |
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
61
|
Wang Y...Gu X
|
25142510 |
2014 |
| 12 |
Novel mutations in geleophysic dysplasia type 1.
61
|
Porayette P...Perez-Atayde AR
|
24251637 |
2014 |
| 13 |
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
61
|
Cecchi A...Milewicz DM
|
23897642 |
2013 |
| 14 |
From tall to short: the role of TGFβ signaling in growth and its disorders.
61
|
Le Goff C...Cormier-Daire V
|
22791552 |
2012 |
| 15 |
The ADAMTS(L) family and human genetic disorders.
61
|
Le Goff C...Cormier-Daire V
|
21880666 |
2011 |
| 16 |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
61
|
Le Goff C...Cormier-Daire V
|
21683322 |
2011 |
| 17 |
Genetic and molecular aspects of acromelic dysplasia.
61
|
Le Goff C...Cormier-Daire V
|
19396027 |
2009 |
Rare bone diseases 
