Detalhe da pesquisa
1.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
2.
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Epilepsy Behav
; 147: 109436, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717460
3.
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
J Hum Genet
; 67(9): 547-551, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581385
4.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
5.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293671
6.
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445325
7.
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.
Clin Genet
; 98(4): 413-415, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748437
8.
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
9.
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
10.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
11.
Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.
Am J Med Genet C Semin Med Genet
; 169C(1): 97-106, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25821094
12.
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
Am J Med Genet A
; 167A(4): 797-801, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25735547
13.
Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages.
Radiol Med
; 120(3): 277-82, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091707
14.
DRD2/AKT1 interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in schizophrenia.
Proc Natl Acad Sci U S A
; 108(3): 1158-63, 2011 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21187413
15.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Genes (Basel)
; 15(4)2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674442
16.
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Diagnostics (Basel)
; 14(6)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535015
17.
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Genes (Basel)
; 14(10)2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895192
18.
Stress-related methylation of the catechol-O-methyltransferase Val 158 allele predicts human prefrontal cognition and activity.
J Neurosci
; 31(18): 6692-8, 2011 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21543598
19.
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Diagnostics (Basel)
; 12(9)2022 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140584
20.
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Front Genet
; 13: 914345, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35836572