Personensuche
Personensuche
Es wurde 1 Person gefunden.
Funktionen
-
Facharzt/-ärztin, Institut für Humangenetik
Aktuelle Veranstaltungen
Keine aktuellen Veranstaltungen.
Vergangene Veranstaltungen (max. 10)
Keine vergangenen Veranstaltungen.
Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
-
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by ageIn: Frontiers in Medicine Jg. 9 (2022) 953643Online Volltext: dx.doi.org/ (Open Access)
-
Beckwith–Wiedemann syndrome : Clinical, histopathological and molecular study of two Tunisian patients and review of literatureIn: Molecular Genetics & Genomic Medicine Jg. 9 (2021) Nr. 10, e1796Online Volltext: dx.doi.org/ (Open Access)
-
Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15In: European Journal of Human Genetics Jg. 28 (2020) Nr. 6, S. 835 - 839Online Volltext: dx.doi.org/ (Open Access)
-
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishmentIn: European Journal of Human Genetics Jg. 27 (2019) S. 903 - 908Online Volltext: dx.doi.org/ Online Volltext (Open Access)
-
Resistance to GHRH but Not to PTH in a 15-year-old boy with pseudohypoparathyroidism 1AIn: Journal of the Endocrine Society Jg. 3 (2019) Nr. 7, S. 1383 - 1389Online Volltext: dx.doi.org/ (Open Access)
-
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromesIn: European Journal of Human Genetics Jg. 27 (2019) Nr. 9, S. 1326 - 1340Online Volltext: dx.doi.org/ (Open Access)
-
Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy RescueIn: Cytogenetics and Cell Genetics Jg. 156 (2018) Nr. 1, S. 9 - 13Online Volltext: dx.doi.org/
-
Elsodleges genetikai vizsgálat Prader-Willi-szindróma igazolásáraIn: Orvosi Hetilap Jg. 159 (2018) Nr. 2, S. 64 - 69Online Volltext: dx.doi.org/ (Open Access)
-
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringIn: Journal of Medical Genetics (eJMG) Jg. 55 (2018) Nr. 7, S. 497 - 504Online Volltext: dx.doi.org/ (Open Access)
-
Molecular and clinical studies in 8 patients with Temple syndromeIn: Clinical Genetics Jg. 93 (2018) Nr. 6, S. 1179 - 1188Online Volltext: dx.doi.org/ Online Volltext (Open Access)
-
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domainsIn: Epigenetics Jg. 13 (2018) Nr. 2, S. 117 - 121Online Volltext: dx.doi.org/ (Open Access)
-
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disordersIn: Epigenetics Jg. 13 (2018) Nr. 8, S. 822 - 828Online Volltext: dx.doi.org/ (Open Access)
-
Atypical Angelman syndrome due to a mosaic imprinting defect : Case reports and review of the literatureIn: American Journal of Medical Genetics, Part A Jg. 173 (2017) Nr. 3, S. 753 - 757Online Volltext: dx.doi.org/
-
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 8, S. 935 - 945Online Volltext: dx.doi.org/
-
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype” : result of placental trisomy 6 mosaicism?In: Molecular Genetics & Genomic Medicine Jg. 5 (2017) Nr. 6, S. 668 - 677Online Volltext: dx.doi.org/ (Open Access)
-
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndromIn: European Journal of Human Genetics Jg. 24 (2016) S. 1280 - 1286Online Volltext: dx.doi.org/ (Open Access)
-
Angelman syndrome-insights into a rare neurogenetic disorderIn: Nature Reviews Neurology Jg. 12 (2016) Nr. 10, S. 584 - 593Online Volltext: dx.doi.org/
-
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeIn: The American Journal of Human Genetics Jg. 99 (2016) Nr. 3, S. 555 - 566Online Volltext: dx.doi.org/ Online Volltext (Open Access)
-
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders : Silver-Russell and Beckwith-Wiedemann syndromeIn: European Journal of Human Genetics Jg. 24 (2016) Nr. 10, S. 1377 - 1387Online Volltext: dx.doi.org/ (Open Access)
-
Expanding the clinical spectrum of the 'HDAC8-phenotype' : Implications for molecular diagnostics, counseling and risk predictionIn: Clinical Genetics Jg. 89 (2016) Nr. 5, S. 564 - 573Online Volltext: dx.doi.org/
-
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeIn: European Journal of Human Genetics Jg. 24 (2016) Nr. 12, S. 1724 - 1729Online Volltext: dx.doi.org/
-
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesIn: Epigenomics Jg. 8 (2016) Nr. 6, S. 801 - 816
-
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boyIn: Clinical Dysmorphology Jg. 25 (2016) Nr. 2, S. 73 - 76Online Volltext: dx.doi.org/
-
A novel large deletion of the ICR1 region including H19 and putative enhancer elementsIn: BMC Medical Genetics Jg. 16 (2015) S. 30Online Volltext: dx.doi.org/ (Open Access)
-
Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome : ein klinisches und molekulares UpdateIn: Medizinische Genetik Jg. 27 (2015) Nr. 2, S. 247 - 253Online Volltext: dx.doi.org/
-
Clinical utility gene card for : Angelman syndromeIn: European Journal of Human Genetics Jg. 23 (2015) Nr. 2, S. e1 - e3Online Volltext: dx.doi.org/
-
Epigenetic germline mosaicism in infertile menIn: Human Molecular Genetics Jg. 24 (2015) Nr. 5, S. 1295 - 1304Online Volltext: dx.doi.org/ (Open Access)
-
Epigenetic heterogeneity in sperm of infertile menIn: Human Reproduction Jg. 30 1 (2015) S. 104 - 104
-
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defectIn: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 7, S. 1565 - 1569Online Volltext: dx.doi.org/
-
Mosaicism and uniparental disomy in prenatal diagnosisIn: Trends in molecular medicine Jg. 21 (2015) Nr. 2, S. 77 - 87Online Volltext: dx.doi.org/
-
Multilocus methylation defects in imprinting disordersIn: Biomolecular concepts Jg. 6 (2015) Nr. 1, S. 47 - 57Online Volltext: dx.doi.org/
-
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansIn: Nature Communications Jg. 6 (2015) S. 8086Online Volltext: dx.doi.org/ (Open Access)
-
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32In: European journal of human genetics Jg. 23 (2015) Nr. 2, S. 180 - 188Online Volltext: dx.doi.org/ (Open Access)
-
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndromeIn: Epigenomics Jg. 7 (2015) Nr. 7, S. 1089 - 1097Online Volltext: dx.doi.org/
-
A familial disorder of altered DNA-methylationIn: Journal of Medical Genetics (eJMG) Jg. 51 (2014) Nr. 6, S. 407 - 412Online Volltext: dx.doi.org/
-
Additional molecular findings in 11p15-associated imprinting disorders: An urgent need for multi-locus testingIn: Journal of Molecular Medicine Jg. 92 (2014) Nr. 7, S. 769 - 777Online Volltext: dx.doi.org/
-
Clinical phenotypes of MAGEL2 mutations and deletionsIn: Orphanet Journal of Rare Diseases Jg. 9 (2014) Nr. 1, S. 40Online Volltext: dx.doi.org/ (Open Access)
-
Clinical utility gene card for : Prader-Willi SyndromeIn: European Journal of Human Genetics Jg. 22 (2014) Nr. 9, S. 1153Online Volltext: dx.doi.org/
-
Partial and complete trisomy 14 mosaicism : clinical follow-up, cytogenetic and molecular analysisIn: Molecular Cytogenetics Jg. 7 (2014) Nr. 1, S. 65Online Volltext: dx.doi.org/ (Open Access)
-
The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenesIn: Genome Biology and Evolution Jg. 6 (2014) Nr. 2, S. 344 - 351Online Volltext: dx.doi.org/ (Open Access)
-
Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation DefectsIn: PLoS ONE Jg. 8 (2013) Nr. 10, S. e76953Online Volltext: dx.doi.org/ (Open Access)
-
Evidence for anticipation in Beckwith-Wiedemann syndromeIn: European Journal of Human Genetics : EJHG Jg. 21 (2013) Nr. 12, S. 1344 - 1348Online Volltext: dx.doi.org/
-
Frequency and characterization of DNA methylation defects in children born SGAIn: European Journal of Human Genetics Jg. 21 (2013) Nr. 8, S. 838 - 843Online Volltext: dx.doi.org/
-
Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1In: PLoS ONE Jg. 8 (2013) Nr. 9, S. e74159Online Volltext: dx.doi.org/ (Open Access)
-
Molekulargenetische Diagnostik von Imprinting-ErkrankungenIn: Biospektrum Jg. 19 (2013) Nr. 7, S. 753 - 758Online Volltext: dx.doi.org/
-
Molekulargenetische Diagnostik von Imprintingerkrankungen : Relevanz von MultilocusmethylierungsdefektenIn: Medizinische Genetik Jg. 25 (2013) Nr. 1, S. 5 - 14Online Volltext: dx.doi.org/
-
The Origin of the RB1 ImprintIn: PLoS ONE Jg. 8 (2013) Nr. 11, S. e81502Online Volltext: dx.doi.org/ (Open Access)
-
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sitesIn: Human Molecular Genetics Jg. 22 (2013) Nr. 3, S. 544 - 557Online Volltext: dx.doi.org/
-
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityIn: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 146Online Volltext: dx.doi.org/ (Open Access)
-
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.In: Clinical Genetics Jg. 81 (2012) Nr. 3, S. 298 - 300Online Volltext: dx.doi.org/
-
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeIn: Molecular Syndromology Jg. 2 (2012) Nr. 2, S. 53 - 59Online Volltext: dx.doi.org/
-
The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated proteinIn: Human Molecular Genetics Jg. 21 (2012) Nr. 18, S. 4038 - 4048Online Volltext: dx.doi.org/ (Open Access)
-
Clinical utility gene card for : Silver-Russell syndromeIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 3,Online Volltext: dx.doi.org/
-
Molecular and clinical aspects of Angelman syndromeIn: Molecular Syndromology Jg. 2 (2011) Nr. 3/5, S. 100 - 112Online Volltext: dx.doi.org/
-
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissuesIn: Clinical Genetics Jg. 80 (2011) Nr. 1, S. 83 - 88Online Volltext: dx.doi.org/
-
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeatsIn: Human Molecular Genetics Jg. 19 (2010) Nr. 10, S. 1967 - 1973Online Volltext: dx.doi.org/
-
Imprinting of RB1 (the new kid on the block)In: Briefings in Functional Genomics and Proteomics Jg. 9 (2010) Nr. 4, S. 347 - 353Online Volltext: dx.doi.org/
-
Malignant melanoma and Wiedemann-Beckwith syndrome in childhoodIn: Klinische Pädiatrie Jg. 222 (2010) Nr. 6, S. 388 - 390Online Volltext: dx.doi.org/
-
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromesIn: BMC Medical Genetics Jg. 11 (2010) Nr. 1,Online Volltext: dx.doi.org/ (Open Access)
-
Prader-Willi syndrome and Angelman syndromeIn: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 154 (2010) Nr. 3, S. 365 - 376Online Volltext: dx.doi.org/
-
Prader-Willi-Syndrom und Angelman-SyndromIn: Medizinische Genetik Jg. 22 (2010) Nr. 4, S. 392 - 398Online Volltext: dx.doi.org/
-
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 8, S. 1942 - 1950Online Volltext: dx.doi.org/
-
Slow progression of a small Wilms' tumorIn: Klinische Pädiatrie Jg. 222 (2010) Nr. 3, S. 190 - 191Online Volltext: dx.doi.org/
-
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selectionIn: Neurogenetics Jg. 11 (2010) Nr. 2, S. 153 - 161Online Volltext: dx.doi.org/
-
Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesisIn: European Journal of Human Genetics Jg. 17 (2009) Nr. 11, S. 1463 - 1470Online Volltext: dx.doi.org/
-
Update of the EMQN / ACGS best practice Guidelines for Molecular Analysis of Prader-Willi and Angelman Syndromes
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 633 - 634Online Volltext: dx.doi.org/ (Open Access)