Detalhe da pesquisa
1.
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
2.
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.
Pediatr Dermatol
; 41(3): 512-514, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156659
3.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
4.
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
5.
Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.
Pediatr Dermatol
; 37(2): 393-395, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957133
6.
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
7.
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
Exp Dermatol
; 28(10): 1156-1163, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29672931
8.
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Am J Hum Genet
; 96(2): 295-300, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620207
9.
Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.
Clin Exp Dermatol
; 48(12): 1409-1413, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379583
10.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Cytogenet Genome Res
; 151(4): 179-185, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478456
11.
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Am J Med Genet A
; 173(11): 2912-2922, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884922
12.
ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges.
Acta Derm Venereol
; 102: adv00706, 2022 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312019
13.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
BMC Med Genet
; 16: 78, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334530
14.
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
BMC Med Genet
; 15: 14, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24451042
15.
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.
Acta Derm Venereol
; 99(9): 828-830, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30834456
16.
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
J Matern Fetal Neonatal Med
; 37(1): 2344718, 2024 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38679587
17.
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
18.
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.
Acta Derm Venereol
; 98(8): 803-804, 2018 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701233
19.
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.
Brain Sci
; 13(11)2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002527
20.
Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series.
Front Pediatr
; 11: 1111527, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37063679