Lista de obras - Marco Fichera - Dominio Público Uruguay

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

artículo científico publicado en 2007

12q12 deletion: A new patient contributing to genotype–phenotype correlation

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

artículo científico publicado en 2013

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

artículo científico publicado en 2006

A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

article

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

artículo científico publicado en 2014

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

artículo científico

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

artículo científico publicado en 2009

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

artículo científico publicado en 2008

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

artículo científico publicado en 2010

A syndrome with coarse face, mental retardation and unusual stereotyped movements*.

artículo científico publicado en 2009

An unusual presentation of Becker Nevus

artículo científico publicado en 2010

Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase

artículo científico publicado en 2016

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

artículo científico publicado en 2012

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

artículo científico publicado en 2011

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

artículo científico publicado en 2019

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation

artículo científico publicado en 2008

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

artículo científico publicado en 2012

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

artículo científico publicado en 2008

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

artículo científico publicado en 2010

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

artículo científico publicado en 2009

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

artículo científico publicado en 2011

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

artículo científico publicado en 2007

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

artículo científico publicado en 2010

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

article

Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.

artículo científico publicado en 2008

Denaturing HPLC-based assay for detection of ATRX gene mutations.

artículo científico publicado en 2005

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias

artículo científico publicado en 2004

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Disruptive CHD8 mutations define a subtype of autism early in development

artículo científico publicado en 2014

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

artículo científico publicado en 2015

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

artículo científico publicado en 2010

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

artículo científico publicado en 2017

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

artículo científico publicado en 2014

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

artículo científico publicado en 2005

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

artículo científico publicado en 2008

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

artículo científico publicado en 2013

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

artículo científico publicado en 2014

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth

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

artículo científico publicado en 2015

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

artículo científico publicado en 2011

Molecular basis of alpha-thalassemia in Sicily

artículo científico publicado en 1997

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

artículo científico publicado en 2019

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

artículo científico publicado en 2003

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

artículo científico publicado en 2006

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

artículo científico publicado en 2005

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

article by Martino Ruggieri et al published 18 September 2012 in American Journal of Medical Genetics

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

artículo científico publicado en 2010

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features

artículo científico publicado en 2007

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

artículo científico publicado en 2009

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

artículo científico publicado en 2001

Quantitative evaluation of partial deletions of the DAZ gene cluster

article

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

artículo científico publicado en 2007

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

artículo científico publicado en 2013

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

Recurrent duplications of 17q12 associated with variable phenotypes.

artículo científico publicado en 2015

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

artículo científico publicado en 2011

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

Secondary cervical dystonic tremor after Japanese encephalitis.

artículo científico publicado en 2013

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

article

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

artículo científico publicado en 2005

Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis

artículo científico publicado en 2014

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

artículo científico publicado en 2013

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

artículo científico publicado en 2022

The molecular landscape of ASPM mutations in primary microcephaly

artículo científico publicado en 2008

Three new patients with dup(17)(p11.2p11.2) without autism

artículo científico publicado en 2008

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

article

Lista de obras de Marco Fichera

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

12q12 deletion: A new patient contributing to genotype–phenotype correlation

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

A syndrome with coarse face, mental retardation and unusual stereotyped movements*.

An unusual presentation of Becker Nevus

Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Disruptive CHD8 mutations define a subtype of autism early in development

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth

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

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

Molecular basis of alpha-thalassemia in Sicily

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

Quantitative evaluation of partial deletions of the DAZ gene cluster

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

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Recurrent duplications of 17q12 associated with variable phenotypes.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

Secondary cervical dystonic tremor after Japanese encephalitis.

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion