Lista de obras - Marlene Rio - Dominio Público Uruguay

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

artículo científico publicado en 2007

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

artículo científico publicado en 2010

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

artículo científico publicado en 2012

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

artículo científico publicado en 2015

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

artículo científico publicado en 2001

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

artículo científico publicado en 2011

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

artículo científico publicado en 2013

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

artículo científico publicado en 2015

Approche diagnostique du sujet présentant un retard mental sévère et syndromique

artículo científico publicado en 2004

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

artículo científico publicado en 2002

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

artículo científico publicado el 2 de febrero de 2011

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

artículo científico publicado en 2014

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

artículo científico publicado en 2015

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

artículo científico publicado en 2012

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

artículo científico publicado en 2015

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

scientific article published on 01 January 2001

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

artículo científico publicado en 2016

Confirmation of RAX gene involvement in human anophthalmia.

artículo científico publicado en 2008

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

artículo científico publicado en 2003

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

artículo científico publicado en 2018

Diagnostic investigations for an unexplained developmental disability

artículo científico publicado en 2012

Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle

article

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

artículo científico publicado en 2014

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scholarly article published in European Journal of Human Genetics

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

artículo científico publicado en 2017

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

artículo científico publicado en 2004

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

artículo científico publicado en 2010

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

artículo científico publicado en 2015

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

artículo científico publicado en 2004

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

artículo científico publicado en 2010

Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature.

artículo científico publicado en 2007

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

artículo científico publicado en 2015

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

artículo científico publicado en 2015

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

artículo científico publicado en 2012

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

artículo científico publicado en 2004

Mitochondrial ND5 mutations mimicking brainstem tectal glioma.

artículo científico publicado en 2010

Mitochondrial disorders and epilepsy.

artículo científico

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

artículo científico publicado en 2017

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

artículo científico publicado en 2012

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

artículo científico publicado en 2016

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

scientific article published on 29 June 2016

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

artículo científico publicado en 2016

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

artículo científico publicado en 2016

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

artículo científico publicado en 2007

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

artículo científico publicado en 2004

Natural history of Barth syndrome: a national cohort study of 22 patients

artículo científico publicado en 2013

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

artículo científico publicado en 2017

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

artículo científico publicado en 2014

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

artículo científico publicado en 2003

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

artículo científico publicado en 2011

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

artículo científico publicado en 2009

The three stages of epilepsy in patients with CDKL5 mutations

artículo científico publicado en 2008

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

artículo científico publicado en 2005

Toward genotype phenotype correlations in GFM1 mutations.

artículo científico publicado en 2011

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

artículo científico publicado en 2002

Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings.

artículo científico publicado en 2009

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

artículo científico publicado en 2014

[Metabolic emergencies: diagnostic algorithm of lactic acidosis]

artículo científico publicado en 2009

[Neonatal hypocalcaemic dilated myocardiopathy due to a 22q11 microdeletion]

artículo científico publicado en 2006

Lista de obras de Marlene Rio

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Approche diagnostique du sujet présentant un retard mental sévère et syndromique

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Confirmation of RAX gene involvement in human anophthalmia.

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Diagnostic investigations for an unexplained developmental disability

Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Mitochondrial ND5 mutations mimicking brainstem tectal glioma.

Mitochondrial disorders and epilepsy.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

Natural history of Barth syndrome: a national cohort study of 22 patients

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

The three stages of epilepsy in patients with CDKL5 mutations

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

Toward genotype phenotype correlations in GFM1 mutations.

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings.

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

[Metabolic emergencies: diagnostic algorithm of lactic acidosis]

[Neonatal hypocalcaemic dilated myocardiopathy due to a 22q11 microdeletion]