Detalhe da pesquisa
1.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Cell
; 184(14): 3812-3828.e30, 2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214472
2.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Blood
; 141(22): 2713-2726, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952639
3.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
4.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
J Med Genet
; 60(4): 337-345, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927022
5.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413283
6.
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Hum Reprod
; 38(5): 992-1002, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952633
7.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
8.
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.
Blood
; 134(1): 9-21, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940614
9.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439109
10.
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.
Clin Immunol
; 168: 88-93, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27057999
11.
A specific molecular signature in SARS-CoV-2-infected kidney biopsies.
JCI Insight
; 8(5)2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36749641
12.
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
Cell Rep Med
; 4(12): 101333, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118407
13.
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Genes (Basel)
; 12(2)2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670832
14.
Somatic genetic rescue of a germline ribosome assembly defect.
Nat Commun
; 12(1): 5044, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413298
15.
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.
Med
; 2(9): 1072-1092.e7, 2021 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34414385
16.
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.
Front Genet
; 10: 1024, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749832
17.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Sci Immunol
; 4(42)2019 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836668
18.
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.
Cell Discov
; 4: 61, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30455981
19.
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
EMBO Mol Med
; 10(4)2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567797
20.
[Early gene expression dysregulation and intellectual disability]. / Dérégulation de l'expression des gènes à réponse précoce et déficience intellectuelle.
Med Sci (Paris)
; 28(2): 128-9, 2012 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-22377293