Lista de obras -

3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

artículo científico publicado en 2014

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

artículo científico publicado en 2018

A boy with Silver-Russell syndrome and Sotos syndrome

scientific article published on 15 November 2020

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

artículo científico publicado en 2009

A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype ⬇️

artículo científico publicado el 2 de febrero de 2012

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

artículo científico publicado en 2015

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome

artículo científico publicado en 2018

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family

artículo científico publicado en 2012

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

artículo científico publicado en 2013

Brain anomalies in encephalocraniocutaneous lipomatosis

article

CASK-Related Disorders

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia

artículo científico publicado en 2014

Chromosome bands and ends revisited

artículo científico publicado en 2003

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

artículo científico publicado en 2014

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

artículo científico publicado en 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

scientific article published on 25 November 2019

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

artículo científico publicado en 2017

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor

artículo científico publicado en 2016

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

artículo científico publicado en 2015

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

artículo científico publicado en 2016

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

artículo científico publicado en 2016

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

scientific article published on 11 May 2020

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

artículo científico publicado en 2017

Genome-wide UPD screening in patients with intellectual disability

artículo científico publicado en 2014

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence? ⬇️

artículo científico publicado el 1 de septiembre de 2012

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

artículo científico publicado el 1 de noviembre de 2010

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

artículo científico publicado en 2010

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

artículo científico publicado en 2017

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

artículo científico publicado en 2010

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

artículo científico publicado en 2008

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

artículo científico publicado en 2006

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features

artículo científico publicado en 2012

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 2016

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

artículo científico publicado en 2014

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

artículo científico publicado en 2010

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

artículo científico publicado en 2010

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

artículo científico publicado en 2017

Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports

artículo científico publicado en 2016

Next-generation sequencing in X-linked intellectual disability

artículo científico publicado en 2015

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

scientific article published on 02 May 2019

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum

artículo científico publicado en 2014

POLR3A variants with striatal involvement and extrapyramidal movement disorder

scientific article published on 15 January 2020

Phenotypic and molecular insights into CASK-related disorders in males

artículo científico publicado en 2015

Phenotypic spectrum associated with CASK loss-of-function mutations

artículo científico publicado en 2011

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Rett syndrome: A study of the face ⬇️

artículo científico publicado el 27 de mayo de 2011

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

artículo científico publicado en 2015

Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation

artículo científico publicado en 2014

The Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in

The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? ⬇️

artículo científico publicado el 2 de agosto de 2013

Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

artículo científico publicado en 2018

What do parents expect from a genetic diagnosis of their child with intellectual disability?

scientific article published on 15 April 2019

Lista de obras de

3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

A boy with Silver-Russell syndrome and Sotos syndrome

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype ⬇️

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Brain anomalies in encephalocraniocutaneous lipomatosis

CASK-Related Disorders

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia

Chromosome bands and ends revisited

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genome-wide UPD screening in patients with intellectual disability

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence? ⬇️

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports

Next-generation sequencing in X-linked intellectual disability

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Phenotypic and molecular insights into CASK-related disorders in males

Phenotypic spectrum associated with CASK loss-of-function mutations

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Rett syndrome: A study of the face ⬇️

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation

The Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in

The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? ⬇️

Transcriptional regulator PRDM12 is essential for human pain perception

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

What do parents expect from a genetic diagnosis of their child with intellectual disability?