Detalhe da pesquisa
1.
Human microglia maturation is underpinned by specific gene regulatory networks.
Immunity
; 56(9): 2152-2171.e13, 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582369
2.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet
; 111(3): 509-528, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412861
3.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815585
4.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865086
5.
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Am J Med Genet C Semin Med Genet
; : e32089, 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38884529
6.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 143(6): 761-773, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
7.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
8.
Administration methods and dosage of poly(lactic acid)-glycol intervention to myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalitis mice.
BMC Neurosci
; 25(1): 16, 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468222
9.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054406
10.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
11.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126281
12.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
13.
Ravulizumab in Aquaporin-4-Positive Neuromyelitis Optica Spectrum Disorder.
Ann Neurol
; 93(6): 1053-1068, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866852
14.
Effectiveness of immunotherapies in relapsing myelin oligodendrocyte glycoprotein antibody-associated disease.
Mult Scler
; 30(3): 357-368, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38314479
15.
Lumen-apposing metal stents with or without coaxial plastic stent placement for the management of pancreatic fluid collections.
Gastrointest Endosc
; 99(1): 104-107, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37722511
16.
Modeling the impact of xenointoxication in dogs to halt Trypanosoma cruzi transmission.
PLoS Comput Biol
; 19(5): e1011115, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155680
17.
Endoscopic Ultrasound-based Shear Wave Elastography for Detection of Advanced Liver Disease.
J Clin Gastroenterol
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38648501
18.
Publisher Correction: The DNA sequence and analysis of human chromosome 14.
Nature
; 620(7973): E17, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491470
19.
Evidence-Based Guideline for Prehospital Airway Management.
Prehosp Emerg Care
; 28(4): 545-557, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38133523
20.
Surgical management of Rathke cleft cysts in pediatric patients: a single institution experience.
Childs Nerv Syst
; 40(5): 1367-1375, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240786