Detalhe da pesquisa
1.
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney Int
; 104(2): 367-377, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230224
2.
A 22q13.1 duplication in mosaicism including SOX10.
Am J Med Genet A
; 191(12): 2813-2818, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37533297
3.
Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.
Pediatr Blood Cancer
; 70(4): e30121, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579772
4.
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
5.
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
J Pediatr Gastroenterol Nutr
; 64(3): 378-384, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253662
6.
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Cell Death Dis
; 15(5): 315, 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704374
7.
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.
Front Mol Biosci
; 10: 1254691, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916190
8.
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Acta Neuropathol Commun
; 11(1): 29, 2023 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803301
9.
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Nat Commun
; 14(1): 3728, 2023 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349339
10.
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
11.
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).
Haematologica
; 102(7): e278-e281, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28428270
12.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
J Med Genet
; 48(7): 497-504, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21490379
13.
BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology.
Front Med (Lausanne)
; 9: 997161, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36465938
14.
Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes.
Elife
; 112022 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35550039
15.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J Clin Invest
; 132(10)2022 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575086
16.
Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.
J Allergy Clin Immunol
; 136(3): 819-821.e1, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25930198
17.
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.
Front Pediatr
; 9: 688022, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34249818
18.
Somatic genetic rescue of a germline ribosome assembly defect.
Nat Commun
; 12(1): 5044, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413298
19.
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
20.
ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development.
Nat Commun
; 11(1): 198, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924792