Detalhe da pesquisa
1.
Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response.
Immunity
; 57(2): 364-378.e9, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301651
2.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
3.
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
J Clin Immunol
; 44(5): 105, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676773
4.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2115-2125, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770806
5.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
J Clin Immunol
; 43(8): 2192-2207, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837580
6.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
7.
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist.
Pediatr Hematol Oncol
; 40(2): 131-146, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913104
8.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
J Allergy Clin Immunol
; 149(2): 758-766, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329649
9.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
10.
Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.
J Clin Immunol
; 42(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802108
11.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Am J Med Genet A
; 188(7): 2129-2134, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266289
12.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
13.
Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia.
Acta Paediatr
; 110(2): 643-651, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025591
14.
A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype.
Int J Mol Sci
; 22(15)2021 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34361096
15.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
J Clin Immunol
; 40(6): 851-860, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32594341
16.
The challenge of pain assessment in children with cognitive disabilities: Features and clinical applicability of different observational tools.
J Paediatr Child Health
; 55(2): 129-135, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264421
17.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2126, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921915
18.
More than an 'atypical' phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.
Br J Haematol
; 191(2): 291-294, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460031
19.
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Br J Haematol
; 189(4): e171-e174, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196641
20.
Percutaneous transhepatic biliary drainage in an infant with obstructive jaundice caused by neuroblastoma.
Pediatr Hematol Oncol
; 32(3): 223-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25551550