Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Dermatology
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588653
3.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
4.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Genes Chromosomes Cancer
; 61(12): 740-746, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999193
5.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
6.
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Am J Med Genet A
; 185(9): 2719-2738, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087052
7.
Expanding the KIF4A-associated phenotype.
Am J Med Genet A
; 185(12): 3728-3739, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346154
8.
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.
Am J Med Genet A
; 182(7): 1791-1795, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359026
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.
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Int J Mol Sci
; 21(20)2020 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33081034
11.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
12.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244530
13.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Eur J Hum Genet
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528056
14.
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
Genes (Basel)
; 14(1)2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672860
15.
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Front Genet
; 13: 924362, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35910214
16.
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Biomedicines
; 10(6)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740480
17.
Surgical management of pediatric intracranial CCM: a 10-year single center experience.
J Neurosurg Sci
; 2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416451
18.
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
Mol Genet Genomic Med
; 9(9): e1612, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342180
19.
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.
Genes (Basel)
; 12(3)2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33652762
20.
Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.
Clin Case Rep
; 9(11): e05108, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34853685