Detalhe da pesquisa
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24998929
2.
Specific CaMKIIs mediate convergent extension cell movements in early zebrafish development.
Dev Dyn
; 253(4): 390-403, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860955
3.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
4.
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Am J Hum Genet
; 96(6): 883-93, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004199
5.
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hum Mol Genet
; 24(20): 5677-86, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188006
6.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Proc Natl Acad Sci U S A
; 111(50): 17953-8, 2014 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25472840
7.
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Gastroenterology
; 148(4): 771-782.e11, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25575569
8.
A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
J Med Genet
; 52(12): 840-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26429889
9.
CaMK-II activation is essential for zebrafish inner ear development and acts through Delta-Notch signaling.
Dev Biol
; 381(1): 179-88, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23747599
10.
CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia.
Development
; 138(16): 3387-97, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21752935
11.
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
HGG Adv
; 5(3): 100288, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566418
12.
The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry.
Development
; 137(16): 2753-62, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20630945
13.
Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis.
Dev Biol
; 330(1): 175-84, 2009 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19345202
14.
RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.
PLoS One
; 14(6): e0217042, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31158233
15.
Immunostaining Phospho-epitopes in Ciliated Organs of Whole Mount Zebrafish Embryos.
J Vis Exp
; (108): 53747, 2016 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26967668
16.
Newborn screening and the era of medical genomics.
Semin Perinatol
; 39(8): 617-22, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499764
17.
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Cell Rep
; 12(7): 1169-83, 2015 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26257172