Lorenzo Sinibaldi
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Explore the profile of Lorenzo Sinibaldi including associated specialties, affiliations and a list of published articles.
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49
Citations
819
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Recent Articles
1.
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med
. 2025 Feb;
:101375.
PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
2.
Sartorelli J, Travaglini L, Garone G, Dentici M, Sinibaldi L, Digilio M, et al.
Neuropediatrics
. 2025 Feb;
PMID: 39914470
Background: Non-selective sodium leak channel (NALCN) protein encoded by the gene is of key importance for neuronal cell excitability. Previous reports showed that biallelic pathogenic variants cause infantile hypotonia with...
3.
Vecchio D, Macchiaiolo M, Gonfiantini M, Panfili F, Petrizzelli F, Liorni N, et al.
Front Genet
. 2024 Dec;
15:1477940.
PMID: 39722796
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549)...
4.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, et al.
Parkinsonism Relat Disord
. 2024 Jul;
126:107057.
PMID: 39067319
Introduction: CTNNB1 gene loss-of-function variants cause Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, OMIM 615075). Although motor impairment represents a core feature of this condition, the motor phenotype...
5.
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, et al.
Int J Mol Sci
. 2024 Jul;
25(13).
PMID: 39000022
CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay, and slight facial features. Genomic variants inactivating or impairing its protein product...
6.
Dentici M, Niceta M, Lepri F, Mancini C, Priolo M, Bonnard A, et al.
Eur J Hum Genet
. 2024 Jun;
32(8):954-963.
PMID: 38824261
Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and...
7.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini M, Vecchio D, et al.
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674442
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two...
8.
Calcagni G, Ferrigno F, Franceschini A, Dentici M, Capolino R, Sinibaldi L, et al.
Diagnostics (Basel)
. 2024 Mar;
14(6).
PMID: 38535015
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants...
9.
Onesimo R, Sforza E, Trevisan V, Leoni C, Giorgio V, Rigante D, et al.
Genes (Basel)
. 2023 Oct;
14(10).
PMID: 37895192
syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the gene....
10.
Trivisano M, De Dominicis A, Stregapede F, Quintavalle C, Micalizzi A, Cappelletti S, et al.
Epilepsy Behav
. 2023 Sep;
147:109436.
PMID: 37717460
CSNK2B encodes a regulatory subunit of casein kinase II, which is highly expressed in the brain. Heterozygous pathogenic variants in CSNK2B are associated with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) (OMIM #618732),...