Detalhe da pesquisa
1.
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
2.
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Hum Mol Genet
; 30(18): 1711-1720, 2021 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909043
3.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906459
4.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
PLoS Genet
; 15(3): e1008075, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917130
5.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170002
6.
Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
BMC Pediatr
; 19(1): 463, 2019 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771548
7.
Pericardial thrombus and cardiac tamponade after pericardiocentesis with intact heart walls.
Echocardiography
; 36(4): 803-805, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30726561
8.
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Am J Med Genet A
; 176(2): 391-398, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193617
9.
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
BMC Pediatr
; 18(1): 340, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30376845
10.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
11.
Narcissistic Personality Disorder as Prodromal Feature of Early-Onset, GRN-Positive bvFTD: A Case Report.
J Alzheimers Dis
; 98(2): 425-432, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38393901
12.
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.
Front Genet
; 14: 1082100, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845402
13.
Organization and Activity of Italian Echocardiographic Laboratories: A Survey of the Italian Society of Echocardiography and Cardiovascular Imaging.
J Cardiovasc Echogr
; 33(1): 1-9, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37426716
14.
Stress Echocardiography in Italian Echocardiographic Laboratories: A Survey of the Italian Society of Echocardiography and Cardiovascular Imaging.
J Cardiovasc Echogr
; 33(3): 125-132, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161775
15.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Hum Mutat
; 33(8): 1175-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22553128
16.
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Orphanet J Rare Dis
; 17(1): 235, 2022 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717370
17.
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
J Clin Med
; 11(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887841
18.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Clin Epigenetics
; 14(1): 71, 2022 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643636
19.
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Genes (Basel)
; 12(8)2021 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440290
20.
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Genes (Basel)
; 12(2)2021 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33562463