Detalhe da pesquisa
1.
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Am J Hum Genet
; 84(4): 542-9, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19361615
2.
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
Hum Mol Genet
; 17(5): 631-41, 2008 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17635842
3.
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.
Am J Med Genet A
; 146A(6): 779-83, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18257094
4.
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
J Med Genet
; 44(2): 89-98, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16801345
5.
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Hum Mutat
; 27(7): 705-10, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16752402
6.
Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins.
J Biol Chem
; 282(5): 2929-36, 2007 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17145761