Lista de obras - Hans-Hilger Ropers - Dominio Público Uruguay

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

artículo científico publicado en 2009

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

artículo científico publicado en 2010

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

artículo científico publicado en 2007

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

artículo científico publicado en 2009

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

artículo científico publicado en 2012

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

artículo científico publicado en 2006

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

scientific article published on 27 July 2010

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

artículo científico publicado en 2009

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

artículo científico publicado en 2006

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

artículo científico publicado en 2013

Characterization of FBX25, encoding a novel brain-expressed F-box protein

artículo científico publicado en 2006

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

scientific journal article

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

artículo científico publicado en 2009

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

artículo científico publicado en 2010

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

artículo científico publicado en 2008

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

artículo científico publicado en 2007

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

artículo científico publicado en 2020

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

artículo científico publicado en 2014

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

artículo científico publicado en 2010

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

artículo científico publicado en 2005

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

artículo científico publicado en 2007

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

artículo científico publicado en 2008

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

artículo científico publicado en 2003

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

artículo científico publicado en 2003

Effect of inbreeding on intellectual disability revisited by Trio sequencing

artículo científico publicado en 2018

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

artículo científico publicado en 2014

Epilepsy and mental retardation limited to females: an under-recognized disorder

artículo científico publicado en 2008

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

artículo científico publicado en 2010

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

artículo científico publicado en 2002

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

article

Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomes

artículo científico publicado en 2002

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

artículo científico publicado en 2005

High prevalence of SLC6A8 deficiency in X-linked mental retardation

artículo científico publicado en 2004

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

artículo científico publicado en 2017

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

scientific journal article

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

artículo científico publicado en 2011

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

artículo científico publicado en 2019

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

scientific journal article

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

artículo científico publicado en 2014

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

artículo científico publicado en 2007

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

artículo científico publicado en 2004

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

artículo científico publicado en 2003

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

New perspectives for the elucidation of genetic disorders

artículo científico publicado en 2007

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

artículo científico publicado en 2006

On the future of genetic risk assessment

artículo científico publicado en 2012

Redefining the MED13L syndrome

artículo científico publicado en 2015

Single gene disorders come into focus--again

artículo científico publicado en 2010

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

artículo científico publicado en 2008

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

artículo científico publicado en 2010

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

artículo científico publicado en 2012

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

artículo científico publicado en 2008

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

artículo científico publicado en 2006

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

artículo científico publicado en 2010

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

artículo científico publicado en 2004

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

article

X-linked mental retardation: many genes for a complex disorder

artículo científico publicado en 2006

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

artículo científico publicado en 2013

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

Lista de obras de Hans-Hilger Ropers

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

Characterization of FBX25, encoding a novel brain-expressed F-box protein

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Effect of inbreeding on intellectual disability revisited by Trio sequencing

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Epilepsy and mental retardation limited to females: an under-recognized disorder

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomes

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

New perspectives for the elucidation of genetic disorders

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

On the future of genetic risk assessment

Redefining the MED13L syndrome

Single gene disorders come into focus--again

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

Variants in CUL4B are associated with cerebral malformations

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

X-linked mental retardation: many genes for a complex disorder

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation