Detalhe da pesquisa
1.
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
Int J Mol Sci
; 25(4)2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396760
2.
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Dig Dis Sci
; 68(10): 3857-3871, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650948
3.
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.
Clin Auton Res
; 33(3): 231-249, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403185
4.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet
; 16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151932
5.
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.
J Clin Immunol
; 42(2): 325-335, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34783940
6.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Eur J Immunol
; 51(1): 206-219, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707604
7.
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Rheumatology (Oxford)
; 61(2): 696-704, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909886
8.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
9.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855352
10.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361767
11.
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
Int J Mol Sci
; 23(23)2022 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498862
12.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Clin Immunol
; 231: 108837, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34455097
13.
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Genet Med
; 23(9): 1656-1663, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958749
14.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mol Genet Metab
; 134(4): 353-358, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865968
15.
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Clin Genet
; 99(3): 430-436, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33294969
16.
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Am J Hematol
; 96(9): 1077-1086, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34000087
17.
Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.
Pediatr Nephrol
; 36(10): 3151-3158, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834290
18.
Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept-A Case Report.
J Pediatr Hematol Oncol
; 43(8): e1168-e1172, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625086
19.
A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review.
Rheumatol Int
; 41(1): 173-181, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31062074
20.
A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.
J Allergy Clin Immunol
; 145(1): 368-378.e13, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31194989