Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Clin Genet
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665048
3.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
4.
Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia.
N Engl J Med
; 383(14): 1317-1327, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865373
5.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
6.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Clin Genet
; 102(2): 142-148, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575217
7.
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
8.
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease.
FASEB J
; 35(3): e21424, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33609323
9.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Am J Med Genet A
; 188(10): 2920-2931, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869874
10.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
11.
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Am J Med Genet A
; 182(11): 2746-2750, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945094
12.
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
Am J Med Genet A
; 182(8): 1972-1976, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573107
13.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Am J Med Genet A
; 182(8): 1977-1984, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573066
14.
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Am J Med Genet A
; 182(10): 2372-2376, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744776
15.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Am J Med Genet A
; 182(5): 1073-1083, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124548
16.
Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.
Neuropediatrics
; 51(5): 359-363, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016944
17.
Expanding the clinical spectrum associated with PACS2 mutations.
Clin Genet
; 95(4): 525-531, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684285
18.
Bartonella henselae in Italy: a rare seasonal infection.
Minerva Pediatr
; 71(5): 415-419, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008366
19.
Ligneous conjunctivitis and use of human plasminogen eyedrops: The Italian experience.
Haemophilia
; 29(2): 681-684, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36657104
20.
Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features.
J Pediatr
; 189: 92-97.e1, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662945