Detalhe da pesquisa
1.
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Clin Genet
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38840272
2.
Risk factors and scores for prediction of coronary artery aneurysms in Kawasaki disease: a European monocentric study.
BMC Pediatr
; 24(1): 139, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395821
3.
Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.
Eur J Pediatr
; 182(6): 2723-2733, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009951
4.
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
J Hum Genet
; 62(2): 277-290, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27734839
5.
When the unexpected happens: intracardiac extracorporeal membrane oxygenation venous cannula kinking.
Perfusion
; 36(7): 769-771, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933371
6.
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
J Hum Genet
; 60(9): 467-71, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26016411
7.
Aortic dilation in Sotos syndrome: An underestimated feature?
Am J Med Genet A
; 182(7): 1819-1823, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32286744
8.
Coronary artery compression during intention to treat right ventricle outflow with percutaneous pulmonary valve implantation: incidence, diagnosis, and outcome.
Catheter Cardiovasc Interv
; 83(7): E260-8, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24619978
9.
Emergency surgery for extrinsic coronary compression after percutaneous pulmonary valve implantation.
Cardiol Young
; 23(3): 463-5, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176808
10.
Development of a score for early identification of children with Kawasaki disease requiring second-line treatment in multi-ethnic populations in Europe: A multicentre retrospective cohort study.
Lancet Reg Health Eur
; 22: 100481, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35982834
11.
Efficacy of Diving Reflex in Near-Term Fetal Tachycardia.
Obstet Gynecol
; 137(2): 351-354, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33416281
12.
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.
Front Genet
; 12: 606630, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33643381
13.
Successful Extracorporeal Membrane Oxygenation After Incidental Azygos Vein Cannulation in a Neonate With Right-Sided Congenital Diaphragmatic Hernia Interruption of the Inferior Vena Cava and Azygos Continuation.
Front Pediatr
; 7: 444, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31709212
14.
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
JAMA Ophthalmol
; 137(4): 348-355, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653210
15.
Long-Term Outcomes After Percutaneous Closure of Ostium Secundum Atrial Septal Defect in the Young: A Nationwide Cohort Study.
JACC Cardiovasc Interv
; 11(8): 795-804, 2018 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673513
16.
Infective Endocarditis Risk After Percutaneous Pulmonary Valve Implantation With the Melody and Sapien Valves.
JACC Cardiovasc Interv
; 10(5): 510-517, 2017 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28279319
17.
Enterovirus fulminant myocarditis as cause of acute heart failure in a newborn.
Int J Cardiol Heart Vasc
; 42: 101093, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35937951
18.
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
J Pediatr Endocrinol Metab
; 29(5): 603-5, 2016 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26974134
19.
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Orphanet J Rare Dis
; 11(1): 108, 2016 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27484908
20.
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Ophthalmic Genet
; 37(3): 307-13, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849621