Detalhe da pesquisa
1.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet;
108(9): 1710-1724, 2021 09 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34450031
2.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet;
107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33232675
3.
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet;
16(10): e1009156, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33104717
4.
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet;
16(6): e1008841, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32544203
5.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet;
104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30773277
6.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet;
103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30290151
7.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med;
23(10): 1889-1900, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34113007
8.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet;
24(9): 2594-603, 2015 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25616960
9.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat;
35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25044745
10.
Evolution of the eye transcriptome under constant darkness in Sinocyclocheilus cavefish.
Mol Biol Evol;
30(7): 1527-43, 2013 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23612715
11.
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Genetics;
217(2)2021 02 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33724412
12.
Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins.
Cell Rep;
25(5): 1281-1291.e4, 2018 10 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30380418
13.
Erratum to: A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Genetics;
218(1)2021 May 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33826717
14.
Zebrafish models in translational research: tipping the scales toward advancements in human health.
Dis Model Mech;
7(7): 739-43, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24973743
15.
The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.
Gene Expr Patterns;
13(8): 473-81, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24045267
16.
Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function.
Dis Model Mech;
4(6): 786-800, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21757509
17.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
J Clin Invest;
120(6): 1812-23, 2010 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20440071
18.
ZYG-9, TAC-1 and ZYG-8 together ensure correct microtubule function throughout the cell cycle of C. elegans embryos.
J Cell Sci;
120(Pt 16): 2963-73, 2007 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17666432
19.
Maternally expressed and partially redundant beta-tubulins in Caenorhabditis elegans are autoregulated.
J Cell Sci;
117(Pt 3): 457-64, 2004 Jan 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14702387
20.
Roles for two partially redundant alpha-tubulins during mitosis in early Caenorhabditis elegans embryos.
Cell Motil Cytoskeleton;
58(2): 112-26, 2004 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15083533