Lista de obras - Ilaria Meloni - Dominio Público Uruguay

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

artículo científico publicado en 2009

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

artículo científico publicado en 2007

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

artículo científico publicado en 2008

A first update on mapping the human genetic architecture of COVID-19

artículo científico publicado en 2022

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

artículo científico publicado en 2000

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

artículo científico publicado en 2003

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

artículo científico publicado en 2010

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

artículo científico publicado en 2002

Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

artículo científico publicado en 2015

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

artículo científico publicado en 2015

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

artículo científico publicado en 2009

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

artículo científico publicado en 2005

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

artículo científico publicado en 2005

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

artículo científico publicado en 2002

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

artículo científico publicado en 2003

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

artículo científico publicado en 2007

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

artículo científico publicado en 2021

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation

scientific article published on 01 May 2008

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

artículo científico publicado en 2008

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

artículo científico publicado en 2021

Epilepsy in Rett syndrome--lessons from the Rett networked database

artículo científico publicado en 2015

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

artículo científico publicado en 2001

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

artículo científico publicado en 2012

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

scientific article published on 13 December 2011

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

artículo científico publicado en 2008

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

artículo científico publicado en 2002

FOXG1 is responsible for the congenital variant of Rett syndrome

artículo científico publicado en 2008

Genomic differences between retinoma and retinoblastoma

artículo científico publicado en 2008

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

scientific article published on 01 March 2005

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

artículo científico publicado en 2014

Huntington's disease gene expansion associates with early onset nonprogressive chorea

artículo científico publicado en 2013

Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.

artículo científico publicado en 2000

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

artículo científico publicado en 2015

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

scientific article published on 01 March 2010

Is Rett syndrome a loss-of-imprinting disorder?

artículo científico publicado en 2005

Italian Rett database and biobank.

artículo científico publicado en 2007

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

artículo científico publicado en 2018

Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis.

artículo científico publicado en 2004

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

artículo científico publicado en 2015

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

artículo científico publicado en 2001

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

artículo científico publicado en 2015

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

artículo científico publicado en 2005

Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family.

artículo científico publicado en 2002

Private inherited microdeletion/microduplications: implications in clinical practice.

artículo científico publicado en 2008

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

artículo científico publicado en 2001

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

artículo científico publicado en 2007

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

artículo científico publicado en 2004

Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome

artículo científico publicado en 2014

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

artículo científico publicado en 2013

Study of MECP2 gene in Rett syndrome variants and autistic girls.

artículo científico publicado en 2003

The Italian XLMR bank: a clinical and molecular database

artículo científico publicado en 2007

The XLMR gene ACSL4 plays a role in dendritic spine architecture

scientific journal article

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

artículo científico publicado en 2016

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

artículo científico publicado en 2004

Visual impairment in FOXG1-mutated individuals and mice

artículo científico publicado en 2016

iPS cells to model CDKL5-related disorders.

artículo científico publicado en 2011

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

artículo científico publicado en 2018

Lista de obras de Ilaria Meloni

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

A first update on mapping the human genetic architecture of COVID-19

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Epilepsy in Rett syndrome--lessons from the Rett networked database

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

FOXG1 is responsible for the congenital variant of Rett syndrome

Genomic differences between retinoma and retinoblastoma

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Huntington's disease gene expansion associates with early onset nonprogressive chorea

Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

Is Rett syndrome a loss-of-imprinting disorder?

Italian Rett database and biobank.

Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia

Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis.

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family.

Private inherited microdeletion/microduplications: implications in clinical practice.

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

Study of MECP2 gene in Rett syndrome variants and autistic girls.

The Italian XLMR bank: a clinical and molecular database

The XLMR gene ACSL4 plays a role in dendritic spine architecture

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Visual impairment in FOXG1-mutated individuals and mice

iPS cells to model CDKL5-related disorders.

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome