Detalhe da pesquisa
1.
Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.
Angiogenesis
; 26(1): 97-105, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972708
2.
Unique and non-redundant function of csf1r paralogues in regulation and evolution of post-embryonic development of the zebrafish.
Development
; 147(2)2020 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932352
3.
Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood.
Ann Rheum Dis
; 82(12): 1547-1557, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679035
4.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
5.
An osteocalcin-deficient mouse strain without endocrine abnormalities.
PLoS Genet
; 16(5): e1008361, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32463812
6.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
7.
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.
Development
; 145(1)2018 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29180569
8.
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
Am J Hum Genet
; 100(3): 546-554, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190454
9.
Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.
Angiogenesis
; 22(4): 547-552, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31486960
10.
Arteriovenous malformation associated with a HRAS mutation.
Hum Genet
; 138(11-12): 1419-1421, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31637524
11.
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Am J Hum Genet
; 98(4): 789-95, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058448
12.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Am J Med Genet A
; 179(12): 2393-2419, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633310
13.
A somatic MAP3K3 mutation is associated with verrucous venous malformation.
Am J Hum Genet
; 96(3): 480-6, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728774
14.
Correction: Unique and non-redundant function of csf1r paralogues in regulation and evolution of post-embryonic development of the zebrafish.
Development
; 147(10)2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32423978
15.
Superficial cells are self-renewing chondrocyte progenitors, which form the articular cartilage in juvenile mice.
FASEB J
; 31(3): 1067-1084, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27965322
16.
Independent validation of experimental results requires timely and unrestricted access to animal models and reagents.
PLoS Genet
; 16(6): e1008940, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32589665
17.
A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.
Angiogenesis
; 20(3): 303-306, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120216
18.
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis.
Pediatr Res
; 82(5): 850-854, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28665924
19.
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates.
PLoS Genet
; 10(5): e1004364, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24875294
20.
Role of lubricin and boundary lubrication in the prevention of chondrocyte apoptosis.
Proc Natl Acad Sci U S A
; 110(15): 5852-7, 2013 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23530215