Detalhe da pesquisa
1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
2.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568805
3.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int J Mol Sci
; 22(11)2021 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199759
4.
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Hum Mutat
; 41(4): 759-773, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799751
5.
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.
Medicina (Kaunas)
; 55(7)2019 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31284637
6.
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Cytogenet Genome Res
; 147(1): 10-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26658296
7.
The New Modular Sforzesco Brace (Modular Italian Brace) Is as Effective as the Classical One: A Retrospective Controlled Study from a Prospective Cohort.
J Clin Med
; 13(7)2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38610839
8.
Life-threatening tumors of the heart in fetal and postnatal age.
J Pediatr
; 162(5): 964-9.e1, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23219450
9.
Impact of the Free-Pelvis Innovation in Very Rigid Braces for Adolescents with Idiopathic Scoliosis: Short-Term Results of a Matched Case-Control Study.
Children (Basel)
; 9(6)2022 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740808
10.
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM).
Antioxidants (Basel)
; 11(7)2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883785
11.
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Front Genet
; 13: 875182, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035117
12.
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.
J Genet
; 1002021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707356
13.
Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases.
Clin Case Rep
; 9(3): 1066-1071, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33768784
14.
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2.
BMJ Case Rep
; 13(12)2020 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318253
15.
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Eur J Med Genet
; 62(11): 103578, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445150
16.
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
PLoS One
; 13(9): e0201005, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30192751
17.
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
J Nephrol
; 29(3): 451-455, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26943180
18.
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Eur J Hum Genet
; 24(9): 1262-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26932191
19.
Team care to cure adolescents with braces (avoiding low quality of life, pain and bad compliance): a case-control retrospective study. 2011 SOSORT Award winner.
Scoliosis
; 7(1): 17, 2012 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22995590