Detalhe da pesquisa
1.
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
Hum Mol Genet
; 28(14): 2378-2394, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090908
2.
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.
Am J Hum Genet
; 103(3): 413-420, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122541
3.
Piezo1 is required for outflow tract and aortic valve development.
J Mol Cell Cardiol
; 143: 51-62, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32251670
4.
Identification of a peripheral blood gene signature predicting aortic valve calcification.
Physiol Genomics
; 52(12): 563-574, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044885
5.
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Nucleic Acids Res
; 46(W1): W545-W553, 2018 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860484
6.
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
BMC Pediatr
; 18(1): 286, 2018 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157809
7.
Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan.
J Infect Dis
; 216(1): 22-28, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28586473
8.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Eur Respir J
; 49(5)2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495692
9.
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Blood
; 126(11): 1273-80, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148990
10.
Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.
Haematologica
; 102(10): 1758-1766, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751561
11.
Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor.
PLoS Genet
; 10(2): e1004081, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516396
12.
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
PLoS Genet
; 10(5): e1004311, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24786642
13.
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
Hum Mutat
; 37(12): 1272-1282, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27599893
14.
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
Hum Mutat
; 37(5): 439-46, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842889
15.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Hum Mutat
; 37(12): 1299-1307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600092
16.
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Hum Mutat
; 37(12): 1308-1317, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27647783
17.
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Am J Hum Genet
; 93(3): 579-86, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011989
18.
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Brain
; 138(Pt 6): 1505-17, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808372
19.
Essential requirement for ß-arrestin2 in mouse intestinal tumors with elevated Wnt signaling.
Proc Natl Acad Sci U S A
; 109(8): 3047-52, 2012 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22315403
20.
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
Muscle Nerve
; 50(6): 1007-10, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25046369