Detalhe da pesquisa
1.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Genome Res
; 32(7): 1242-1253, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710300
2.
Magnetic resonance imaging scoring system of the lower limbs in adult patients with suspected idiopathic inflammatory myopathy.
Neurol Sci
; 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383748
3.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
J Med Genet
; 59(2): 189-195, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361104
4.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
5.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
6.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Genes Chromosomes Cancer
; 61(1): 10-21, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427956
7.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(2): 246-259, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661772
8.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
9.
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.
J Genet Couns
; 30(3): 665-675, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142017
10.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
11.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488467
12.
Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.
Am J Med Genet A
; 182(7): 1673-1680, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32352226
13.
Kidney Transplant in Fabry Disease: A Revision of the Literature.
Medicina (Kaunas)
; 56(6)2020 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532136
14.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
15.
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Cytogenet Genome Res
; 157(3): 135-140, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933954
16.
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
J Med Genet
; 55(11): 753-764, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120216
17.
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
J Clin Immunol
; 38(4): 494-502, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770900
18.
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Am J Med Genet A
; 176(11): 2395-2403, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244536
19.
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Hum Mol Genet
; 24(12): 3335-47, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740848
20.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(4): 777, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30951678