I Meloni
Overview
Explore the profile of I Meloni including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
25
Citations
409
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Quadalti C, Sannia M, Humphreys N, Baldassarro V, Gurgone A, Ascolani M, et al.
Heliyon
. 2024 Nov;
10(21):e40165.
PMID: 39583831
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. Hundreds of pathogenic variants have been described, associated with a significant phenotypic heterogeneity...
2.
Boggio E, Pancrazi L, Gennaro M, Lo Rizzo C, Mari F, Meloni I, et al.
Neuroscience
. 2016 Mar;
324:496-508.
PMID: 27001178
The Forkead Box G1 (FOXG1 in humans, Foxg1 in mice) gene encodes for a DNA-binding transcription factor, essential for the development of the telencephalon in mammalian forebrain. Mutations in FOXG1...
3.
Ariani F, Mari F, Amitrano S, Di Marco C, Artuso R, Scala E, et al.
Clin Genet
. 2012 Jul;
83(3):288-90.
PMID: 22823409
No abstract available.
4.
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
de Filippis R, Pancrazi L, Bjorgo K, Rosseto A, Kleefstra T, Grillo E, et al.
Clin Genet
. 2011 Nov;
82(4):395-403.
PMID: 22091895
Mutations in the Forkhead box G1 (FOXG1) gene, a brain specific transcriptional factor, are responsible for the congenital variant of Rett syndrome. Until now FOXG1 point mutations have been reported...
5.
Meloni I, Parri V, de Filippis R, Ariani F, Artuso R, Bruttini M, et al.
Neuroscience
. 2009 Jan;
159(2):657-69.
PMID: 19166906
ACSL4 is a gene involved in non-syndromic X-linked mental retardation. It encodes for a ubiquitous protein that adds coenzyme A to long-chain fatty acids, with a high substrate preference for...
6.
Renieri A, Mari F, Mencarelli M, Scala E, Ariani F, Longo I, et al.
Brain Dev
. 2008 Jun;
31(3):208-16.
PMID: 18562141
The preserved speech variant is the milder form of Rett syndrome: affected girls show the same stages of this condition and by the second half of the first decade are...
7.
Caselli R, Mencarelli M, Papa F, Uliana V, Schiavone S, Strambi M, et al.
Eur J Med Genet
. 2007 May;
50(4):315-21.
PMID: 17512813
We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also...
8.
Pescucci C, Caselli R, Mari F, Speciale C, Ariani F, Bruttini M, et al.
Hum Mutat
. 2006 Sep;
28(1):13-8.
PMID: 16983648
Mental retardation (MR) is a nonprogressive condition characterized by a significant impairment of intellectual capabilities with deficit of cognitive and adaptive functioning and onset before 18 years. Mental retardation occurs...
9.
Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, et al.
Clin Genet
. 2005 Feb;
67(3):258-60.
PMID: 15691364
Rett syndrome is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The vast majority of cases are sporadic and are caused by de novo mutations in the MECP2...
10.
Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I
J Cell Physiol
. 2005 Feb;
204(1):8-20.
PMID: 15690397
This review focuses on the 19 identified genes involved in X-linked "non-syndromic" mental retardation (MR) and defines the signaling pathways in which they are involved, focusing on emerging common mechanisms....