Lista de obras - Cecilia Mancini - Dominio Público Uruguay

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

artículo científico publicado en 2017

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants

scientific article published on 13 November 2018

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

artículo científico publicado en 2015

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

artículo científico publicado en 2017

ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia

artículo científico publicado en 2018

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

artículo científico publicado en 2014

Altered homeostasis of trace elements in the blood of SCA2 patients

artículo científico publicado en 2018

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

artículo científico publicado en 2015

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

artículo científico publicado en 2015

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia

artículo científico publicado en 2015

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

artículo científico publicado en 2017

ELOVL5 mutations cause spinocerebellar ataxia 38

artículo científico publicado en 2014

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

artículo científico publicado en 2016

Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes.

artículo científico publicado en 2011

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

artículo científico publicado en 2013

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

artículo científico publicado en 2012

Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript

artículo científico publicado en 2017

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

artículo científico publicado en 2014

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

artículo científico publicado en 2012

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

artículo científico publicado en 2018

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

artículo científico publicado en 2010

Mitochondrial stress response triggered by defects in protein synthesis quality control

artículo científico publicado en 2019

NT5E mutations and arterial calcifications

artículo científico publicado en 2011

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

artículo científico publicado en 2018

RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response

artículo científico publicado en 2016

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

artículo científico publicado en 2016

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

artículo científico publicado en 2018

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

artículo científico publicado en 2012

Spinocerebellar Ataxia Type 28

artículo científico publicado en 2018

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

artículo científico publicado en 2018

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

artículo científico publicado en 2015

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

article

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

artículo científico publicado en 2016

Lista de obras de Cecilia Mancini

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

Altered homeostasis of trace elements in the blood of SCA2 patients

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

ELOVL5 mutations cause spinocerebellar ataxia 38

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes.

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

Mitochondrial stress response triggered by defects in protein synthesis quality control

NT5E mutations and arterial calcifications

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Spinocerebellar Ataxia Type 28

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.