Detalhe da pesquisa
1.
Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.
Am J Pathol
; 194(2): 180-194, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38029923
2.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
3.
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis.
Int Arch Allergy Immunol
; 184(1): 76-84, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273440
4.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
5.
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.
PLoS Comput Biol
; 18(9): e1009785, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36129964
6.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
J Clin Immunol
; 42(2): 286-298, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716846
7.
Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature.
Klin Padiatr
; 234(5): 317-319, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139546
8.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33872655
9.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
10.
MicroRNA Profiles of Maternal and Neonatal Endothelial Progenitor Cells in Preeclampsia.
Int J Mol Sci
; 22(10)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070163
11.
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Clin Immunol
; 210: 108269, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31683054
12.
Vitamin D improves endothelial barrier integrity and counteracts inflammatory effects on endothelial progenitor cells.
FASEB J
; 33(8): 9142-9153, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31084577
13.
Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
Brain
; 143(11): e91, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33146701
14.
Current genetic diagnostics in inborn errors of immunity.
Front Pediatr
; 12: 1279112, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38659694
15.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
16.
Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2.
Carcinogenesis
; 34(5): 1115-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349020
17.
A holistic approach to maximise diagnostic output in trio exome sequencing.
Front Pediatr
; 11: 1183891, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37274821
18.
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Cells
; 12(22)2023 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37998386
19.
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Front Genet
; 14: 1065907, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36777733
20.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Pediatr Pulmonol
; 58(11): 3095-3105, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560881