Detalhe da pesquisa
1.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
2.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
3.
The centriolar satellite protein Cfap53 facilitates formation of the zygotic microtubule organizing center in the zebrafish embryo.
Development
; 149(16)2022 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980365
4.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Circ Res
; 130(2): 166-180, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886679
5.
The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.
Dev Dyn
; 251(8): 1357-1367, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275424
6.
Actin dynamics and the Bmp pathway drive apical extrusion of proepicardial cells.
Development
; 146(13)2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175121
7.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239721
8.
Zebrafish prrx1a mutants have normal hearts.
Nature
; 585(7826): E14-E16, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32968253
9.
Notch and Bmp signaling pathways act coordinately during the formation of the proepicardium.
Dev Dyn
; 249(12): 1455-1469, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33103836
10.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
11.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005418
12.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119818
13.
Glypican4 promotes cardiac specification and differentiation by attenuating canonical Wnt and Bmp signaling.
Development
; 142(10): 1767-76, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25968312
14.
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
Development
; 141(9): 1961-70, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24718990
15.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588455
16.
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
JCI Insight
; 8(17)2023 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561591
17.
Phytochrome B and histone deacetylase 6 control light-induced chromatin compaction in Arabidopsis thaliana.
PLoS Genet
; 5(9): e1000638, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19730687
18.
Asymmetric Hapln1a drives regionalized cardiac ECM expansion and promotes heart morphogenesis in zebrafish development.
Cardiovasc Res
; 118(1): 226-240, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33616638
19.
Photoreceptors CRYTOCHROME2 and phytochrome B control chromatin compaction in Arabidopsis.
Plant Physiol
; 154(4): 1686-96, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20935177
20.
Stable S/MAR-based episomal vectors are regulated at the chromatin level.
Chromosome Res
; 18(7): 757-75, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21080054