Detalhe da pesquisa
1.
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
2.
Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.
World J Surg Oncol
; 21(1): 118, 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36998040
3.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
4.
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
5.
Impact of air pollution on respiratory diseases in children with recurrent wheezing or asthma.
BMC Pulm Med
; 14: 130, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098250
6.
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Genes Genomics
; 45(5): 637-655, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454368
7.
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Cancers (Basel)
; 15(3)2023 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765732
8.
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
Ital J Pediatr
; 47(1): 81, 2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33789733
9.
Unexpected phenotype in a frameshift mutation of PTCH1.
Mol Genet Genomic Med
; 8(1): e987, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578813
10.
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Front Cell Dev Biol
; 8: 710, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32850830
11.
Immunization of children with secondary immunodeficiency.
Hum Vaccin Immunother
; 11(11): 2564-70, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176360
12.
Vaccine administration in children with chronic kidney disease.
Vaccine
; 32(49): 6601-6, 2014 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25275950
13.
Autoimmune/inflammatory syndrome induced by adjuvants (ASIA): clues and pitfalls in the pediatric background.
Immunol Res
; 60(2-3): 366-75, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395340
14.
Impact of a mixed bacterial lysate (OM-85 BV) on the immunogenicity, safety and tolerability of inactivated influenza vaccine in children with recurrent respiratory tract infection.
Vaccine
; 32(22): 2546-52, 2014 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24681270
15.
Pneumococcal bacterial load colonization as a marker of mixed infection in children with alveolar community-acquired pneumonia and respiratory syncytial virus or rhinovirus infection.
Pediatr Infect Dis J
; 32(11): 1199-204, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23743541