List of works - Hans-Hilger Ropers

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

scientific article

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

scientific article (publication date: March 2003)

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

scientific article

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

article

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

scientific article

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

scientific article published on September 2002

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

scientific article published on January 2010

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

scientific article

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

scientific article

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

scientific article

Effect of inbreeding on intellectual disability revisited by Trio sequencing

scientific article published on 19 November 2018

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

scientific article

Single gene disorders come into focus--again

scientific article

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

scientific article

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

scientific article published on 24 September 2009

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

scientific article published on 14 May 2019

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

scientific article published on 07 September 2020

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

scientific article published on 27 July 2010

List of works by Hans-Hilger Ropers

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

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

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

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

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

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

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

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

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

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

Effect of inbreeding on intellectual disability revisited by Trio sequencing

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

Single gene disorders come into focus--again

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

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

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

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

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