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H.H. Ropers

Observed names: H. -H. Ropers, H.-H. Ropers, H.H Ropers, H.‐H. Ropers, Hans-Hilger Ropers, Hans‐Hilger Ropers
OpenAlex ID: A5113588099
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
1995 · Miikka Vikkula, Edwin C.M Madman, et al. · Cell · 398
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Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene
1994 · Hannie Kremer, Patrick Zeeuwen, et al. · Journal of Investigative Dermatology · 99
Characterization of interstitial Xp duplications in two families by tiling path array CGH
2007 · Andreas Tzschach, Wei Chen, et al. · American Journal of Medical Genetics Part A · 71
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
2006 · F. Erdogan, W. Chen, et al. · Cytogenetic and Genome Research · 69
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
1999 · Ben C.J. Hamel, Arie P.T. Smits, et al. · American Journal of Medical Genetics · 30
A complex phenotype with cystic renal disease
2006 · D. Müller, E. Klopocki, et al. · Kidney International · 17
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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
2006 · Andreas Tzschach, Ines Krause‐Plonka, et al. · American Journal of Medical Genetics Part A · 15
4q35 deletion and 10p15 duplication associated with immunodeficiency
2006 · S. Cingoz, A.M. Bisgaard, et al. · American Journal of Medical Genetics Part A · 11
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
1999 · Ben C J Hamel, Pieter Wesseling, et al. · Journal of Medical Genetics · 9
Erratum: isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 2:84
1992 · Wilhelm Berger, A Meindl, et al. · 4
Alport�s Syndrome: Localization of the X-Chromosomal Gene and Consequences for Future Investigations
2015 · H. Brunner, C. Schr�der, et al. · Contributions to nephrology
Invited Speakers: I-18: Identification of Over 50 Novel Genes Involved in Arid by Homozygousity Mapping and Next Generation Sequencing
2011 · Hossein Najmabadi, Hao Hu, et al.
Molecular Elucidation of Hereditary Eye Diseases: Pivotal Role of the Clinician
2009 · H.H. Ropers · Ophthalmic Research
P.1.30 A genomewide duplication- and deletion analysis on patients with ADHD
2007 · S. Selch, K.P. Lesch, et al. · European Neuropsychopharmacology
Development and validation of the "chromosome X exon-specific array" that enables identification of copy number changes in genes of the X chromosome
2007 · Philippos C. Patsalis, Ludmila Kousoulidou, et al. · Chromosome Research
Development and validation of the “chromosome X exon-specific array” that enables identification of copy number changes in genes of the X chromosome
2007 · L. K. Kousoulidou, Stavros Bashiardes, et al. · European Journal of Human Genetics
Development and validation of the “chromosome X exon-specific array” and screening of 20 XLMR families: a targeted approach to identify genes associated with XLMR
2007 · Ludmila Kousoulidou, Stavros Bashiardes, et al.
Array CGH of ALS patients – new candidate genes
2006 · S. Waibel, A.C. Ludolph, et al. · Aktuelle Neurologie
Identification of candidate genes in patients with amyotrophic lateral sclerosis by breakpoint characterisation
2005 · J.S Dullinger, J Prudlo, et al. · Aktuelle Neurologie
Clinical features in patients with mutations in JARID1C
2005 · Andreas Tzschach, Steffen Lenzner, et al. · European Journal of Human Genetics
Construction of a physical, genetic and transcript map of human xq21.1-q21.3
1998 · Anthony P. Monaco, H.H. Ropers, et al. · Radboud Repository (Radboud University)
A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1
1996 · Edwin C.M. Mariman, Sylvia E. C. van Beersum, et al. · Radboud Repository (Radboud University)
De moleculaire basis van X-gebonden doofheid type 3 (DFN3): identificatie van 6 nieuwe deleties 900 kb proximaal van het DFN3gene, POU3F4
1996 · Y.J.M. de Kok, C.W.R.J. Cremers, et al. · Radboud Repository (Radboud University)
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Een gen voor glomustumoren ligt op 11q12-q13.1 en is onderhevig aan genomische 'imprinting'.
1995 · Edwin C.M. Mariman, Sylvia E. C. van Beersum, et al. · Radboud Repository (Radboud University)
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A model for the initiation and progression of non-chromaffin paragangliomas: An autosomal dominant disorder with genetic heterogeneity and genomic imprinting
1994 · Edwin C.M. Mariman, Sylvia E. C. van Beersum, et al. · The American Journal of Human Genetics
Works count: 27
Citation count: 723
H-index: 9
I10-index: 8
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