Lista de obras -

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine

artículo científico publicado en 2018

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

artículo científico publicado en 2013

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

artículo científico publicado en 2009

A newly discovered founder population: the Roma/Gypsies

artículo científico publicado en 2005

A novel GEFS+ locus on 12p13.33 in a large Roma family

artículo científico publicado en 2011

A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains

artículo científico

A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

artículo científico publicado en 2003

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

artículo científico publicado en 2011

Absence of linkage and linkage disequilibrium to chromosome 15q11‐q13 markers in 139 multiplex families with autism

artículo científico publicado en 1999

Analysis of published PKD1 gene sequence variants

article

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

artículo científico publicado en 2016

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

artículo científico publicado en 2017

Autoimmunoreactivity to Schwann cells in patients with inflammatory neuropathies

artículo científico publicado en 2003

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

artículo científico publicado en 2012

Bipolar disorder in the Bulgarian Gypsies: genetic heterogeneity in a young founder population

artículo científico publicado en 2009

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates

artículo científico publicado en 2007

Challenges of diagnostic exome sequencing in an inbred founder population

artículo científico publicado en 2013

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

artículo científico publicado en 2006

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

artículo científico publicado en 2015

Comprehensive analysis of tagging sequence variants inDTNBP1shows no association with schizophrenia or with its composite neurocognitive endophenotypes

article

Congenital Cataracts, Facial Dysmorphism, and Neuropathy

artículo científico publicado en 2017

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.

artículo científico publicado en 2006

Congenital cataracts-facial dysmorphism-neuropathy

artículo científico publicado en 2006

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Correction to: Origins, admixture and founder lineages in European Roma

artículo científico publicado en 2021

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

artículo científico publicado en 2002

Deleterious GRM1 mutations in schizophrenia

artículo científico publicado en 2012

Detecting population growth, selection and inherited fertility from haplotypic data in humans

artículo científico publicado en 2003

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

artículo científico publicado en 2014

Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies)

scientific article published on 01 January 2006

Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

artículo científico publicado en 2011

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

scientific article published on 08 February 2006

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

artículo científico publicado en 2014

Functionally distinct PI 3-kinase pathways regulate myelination in the peripheral nervous system.

scientific article published on March 2014

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

artículo científico publicado en 2015

Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

artículo científico publicado en 2020

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

artículo científico publicado en 2005

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

artículo científico publicado en 2013

Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.

artículo científico publicado en 2005

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies

article

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

artículo científico publicado en 2007

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

artículo científico publicado en 2011

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

artículo científico publicado en 2010

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia

artículo científico publicado en 2012

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

artículo científico publicado en 2011

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

artículo científico publicado en 2014

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

artículo científico publicado en 2022

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

artículo científico publicado en 2010

Long-term follow-up in patients with CCFDN syndrome

artículo científico publicado en 2014

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

artículo científico publicado en 2015

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

artículo científico publicado en 2010

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

artículo científico publicado en 2002

Mutation history of the roma/gypsies

artículo científico publicado en 2004

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

article

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.

artículo científico publicado en 2005

Ndrg1 in development and maintenance of the myelin sheath

artículo científico publicado en 2011

Null mutations in LTBP2 cause primary congenital glaucoma

artículo científico publicado en 2009

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

artículo científico publicado en 2004

Origins, admixture and founder lineages in European Roma

artículo científico publicado en 2015

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

artículo científico publicado en 2003

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

artículo científico publicado en 2009

RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization

artículo científico publicado en 2011

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

article

Reply: Mutations in TUBB4A and spastic paraplegia

artículo científico publicado en 2015

Roma (Gypsies): Genetic Studies

artículo científico publicado en 2013

SSCP analysis: A blind sensitivity trial

artículo científico publicado en 1997

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

artículo científico publicado en 2016

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary

artículo científico publicado en 2002

The AQP1 del601G mutation in different European Romani (Gypsy) populations

artículo científico publicado en 2016

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time

artículo científico publicado en 2003

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D.

artículo científico publicado en 2013

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

artículo científico publicado en 2016

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

artículo científico publicado en 2017

Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders

Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings

artículo científico publicado en 2012

Lista de obras de

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

A newly discovered founder population: the Roma/Gypsies

A novel GEFS+ locus on 12p13.33 in a large Roma family

A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains

A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

Absence of linkage and linkage disequilibrium to chromosome 15q11‐q13 markers in 139 multiplex families with autism

Analysis of published PKD1 gene sequence variants

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

Autoimmunoreactivity to Schwann cells in patients with inflammatory neuropathies

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Bipolar disorder in the Bulgarian Gypsies: genetic heterogeneity in a young founder population

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates

Challenges of diagnostic exome sequencing in an inbred founder population

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

Comprehensive analysis of tagging sequence variants inDTNBP1shows no association with schizophrenia or with its composite neurocognitive endophenotypes

Congenital Cataracts, Facial Dysmorphism, and Neuropathy

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.

Congenital cataracts-facial dysmorphism-neuropathy

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Correction to: Origins, admixture and founder lineages in European Roma

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

Deleterious GRM1 mutations in schizophrenia

Detecting population growth, selection and inherited fertility from haplotypic data in humans

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies)

Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Functionally distinct PI 3-kinase pathways regulate myelination in the peripheral nervous system.

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Long-term follow-up in patients with CCFDN syndrome

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

Mutation history of the roma/gypsies

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.

Ndrg1 in development and maintenance of the myelin sheath

Null mutations in LTBP2 cause primary congenital glaucoma

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

Origins, admixture and founder lineages in European Roma

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

Reply: Mutations in TUBB4A and spastic paraplegia

Roma (Gypsies): Genetic Studies

Roma (Gypsies): Genetic Studies

Roma (Gypsies): Genetic Studies

SSCP analysis: A blind sensitivity trial

SSCP analysis: A blind sensitivity trial

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary

The AQP1 del601G mutation in different European Romani (Gypsy) populations

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D.

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement