Detalhe da pesquisa
1.
Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.
Mol Biol Rep
; 51(1): 274, 2024 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38305850
2.
Primary cilia in skeletal development and disease.
Exp Cell Res
; 431(1): 113751, 2023 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37574037
3.
The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila.
Exp Cell Res
; 418(2): 113273, 2022 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35839863
4.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Hum Mutat
; 43(12): 2116-2129, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36150098
5.
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Hum Mutat
; 42(8): 1005-1014, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34057271
6.
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Clin Genet
; 99(4): 594-600, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33463720
7.
The story of the lost twins: decoding the genetic identities of the Kumhar and Kurcha populations from the Indian subcontinent.
BMC Genet
; 21(Suppl 1): 117, 2020 10 22.
Artigo
Inglês
| MEDLINE | ID: mdl-33092524
8.
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
Am J Med Genet A
; 182(12): 2951-2958, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32990402
9.
Application of the geographic population structure (GPS) algorithm for biogeographical analyses of wild and captive gorillas.
BMC Bioinformatics
; 20(Suppl 1): 35, 2019 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30717677
10.
Correction to: Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 genomes project.
BMC Genet
; 19(1): 96, 2018 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30359224
11.
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
J Hum Genet
; 62(7): 723-727, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28356563
12.
Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 genomes project.
BMC Genet
; 18(Suppl 1): 109, 2017 12 28.
Artigo
Inglês
| MEDLINE | ID: mdl-29297311
13.
Brinker possesses multiple mechanisms for repression because its primary co-repressor, Groucho, may be unavailable in some cell types.
Development
; 140(20): 4256-65, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24086079
14.
The impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study.
Front Public Health
; 11: 1303183, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38155884
15.
Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry.
Life (Basel)
; 12(9)2022 Aug 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36143338
16.
Genomic and Ancestral Variation Underlies the Severity of COVID-19 Clinical Manifestation in Individuals of European Descent.
Life (Basel)
; 11(9)2021 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34575070
17.
Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation.
PeerJ
; 8: e9799, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32884864
18.
Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.
Gene
; 729: 144229, 2020 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31706999
19.
Modulation of the Promoter Activation Rate Dictates the Transcriptional Response to Graded BMP Signaling Levels in the Drosophila Embryo.
Dev Cell
; 54(6): 727-741.e7, 2020 09 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32758422
20.
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Clin Dysmorphol
; 29(3): 127-131, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32459673