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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.
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ANKRD11 variants : KBG syndrome and beyondIn: Clinical Genetics Jg. 100 (2021) Nr. 2, S. 187 - 200Online Volltext: dx.doi.org/ (Open Access)
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Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesIn: Clinical Genetics Jg. 96 (2019) Nr. 3, S. 246 - 253Online Volltext: dx.doi.org/
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Genetics of intellectual disability in consanguineous familiesIn: Molecular Psychiatry Jg. 24 (2019) Nr. 7, S. 1027 - 1039Online Volltext: dx.doi.org/ (Open Access)
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UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive TumorsIn: Cell Jg. 176 (2019) Nr. 3, S. 505 - 519.e22Online Volltext: dx.doi.org/ (Open Access)
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)In: Human Genetics Jg. 137 (2018) Nr. 9, S. 753 - 768Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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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)
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeIn: The American Journal of Human Genetics Jg. 102 (2018) Nr. 3, S. 468 - 479Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsIn: American Journal of Medical Genetics, Part A Jg. 173 (2017) Nr. 2, S. 435 - 443Online Volltext: dx.doi.org/
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Delineating SPTAN1 associated phenotypes : From isolated epilepsy to encephalopathy with progressive brain atrophyIn: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 9, S. 2322 - 2336Online Volltext: dx.doi.org/ (Open Access)
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismIn: Human Genetics Jg. 136 (2017) Nr. 2, S. 179 - 192Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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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/
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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)
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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyIn: American Journal of Human Genetics Jg. 99 (2016) Nr. 5, S. 1181 - 1189Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndromeIn: Journal of medical genetics Jg. 53 (2016) Nr. 3, S. 152 - 162Online Volltext: dx.doi.org/ (Open Access)
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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?In: American Journal of Medical Genetics, Part A Jg. 170 (2016) Nr. 1, S. 94 - 102Online Volltext: dx.doi.org/
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Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 casesIn: European Journal of Human Genetics Jg. 23 (2015) Nr. 3, S. 292 - 301Online Volltext: dx.doi.org/ (Open Access)
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability : expanding the mutational and clinical spectrumIn: Human genetics
Jg. 134 (2015) Nr. 1, S. 97 - 109 Online Volltext: dx.doi.org/ -
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementIn: Annals of Clinical and Translational Neurology Jg. 2 (2015) Nr. 5, S. 492 - 509Online Volltext: dx.doi.org/ (Open Access)
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesIn: Human Genetics Jg. 134 (2015) Nr. 6, S. 553 - 568Online Volltext: dx.doi.org/
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A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndromeIn: Clinical Dysmorphology Jg. 23 (2014) Nr. 2, S. 67 - 70Online Volltext: dx.doi.org/
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Expanding the phenotype of IQSEC2 mutations : Truncating mutations in severe intellectual disabilityIn: European Journal of Human Genetics Jg. 22 (2014) Nr. 2, S. 289 - 292Online Volltext: dx.doi.org/
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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin typeIn: American journal of human genetics Jg. 95 (2014) Nr. 6, S. 649 - 659Online Volltext: dx.doi.org/ (Open Access)
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A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodelingIn: Human Molecular Genetics Jg. 22 (2013) Nr. 25, S. 5121 - 5135Online Volltext: dx.doi.org/
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeIn: Human Genetics Jg. 132 (2013) Nr. 8, S. 885 - 898Online Volltext: dx.doi.org/
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Extending the KCNQ2 encephalopathy spectrum : Clinical and neuroimaging findings in 17 patientsIn: Neurology Jg. 81 (2013) Nr. 19, S. 1697 - 1703Online Volltext: dx.doi.org/
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Human Ring Chromosomes – New Insights for their Clinical SignificanceIn: Balkan Journal of Medical Genetics Jg. 16 (2013) Nr. 1, S. 13 - 20Online Volltext: dx.doi.org/
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutationsIn: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 110Online Volltext: dx.doi.org/ (Open Access)
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The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAPIn: Orphanet Journal of Rare Diseases Jg. 8 (2013) S. 63Online Volltext: dx.doi.org/
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesIn: Nature Genetics Jg. 44 (2012) Nr. 8, S. 934 - 940
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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/
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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC geneIn: Clinical Genetics Jg. 82 (2012) Nr. 2, S. 140 - 146Online Volltext: dx.doi.org/
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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeIn: American Journal of Human Genetics, The (AJHG) Jg. 90 (2012) Nr. 2, S. 308 - 313Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Nablus mask-like facial syndrome : deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeIn: American Journal of Medical Genetics, Part A Jg. 158 (2012) Nr. 9, S. 2091 - 2099Online Volltext: dx.doi.org/
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability : An exome sequencing studyIn: The Lancet Jg. 380 (2012) Nr. 9854, S. 1674 - 1682Online Volltext: dx.doi.org/
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Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved n-terminal BRCT domain of microcephalinIn: Molecular Syndromology Jg. 3 (2012) Nr. 1, S. 6 - 13Online Volltext: dx.doi.org/
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A mutation screen in patients with Kabuki syndromeIn: Human Genetics Jg. 130 (2011) Nr. 6, S. 715 - 724Online Volltext: dx.doi.org/
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Cohen syndrome diagnosis using whole genome arraysIn: Journal of Medical Genetics (eJMG) Jg. 48 (2011) Nr. 2, S. 136 - 140Online Volltext: dx.doi.org/
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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1In: BMC Medical Genetics Jg. 12 (2011) S. 106Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Monozygotic twins discordant for trisomy 18In: Ultrasound in Obstetrics & Gynecology Jg. 38 (2011) Nr. 6, S. 727 - 728Online Volltext: dx.doi.org/ (Open Access)
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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD IIn: Science Jg. 332 (2011) Nr. 6026, S. 238 - 240Online Volltext: dx.doi.org/
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsIn: Human Mutation Jg. 32 (2011) Nr. 4, S. 445 - 455Online Volltext: dx.doi.org/
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Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorderIn: European Journal of Pharmacology Jg. 660 (2011) Nr. 1, S. 165 - 170Online Volltext: dx.doi.org/
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistanceIn: European Journal of Human Genetics Jg. 18 (2010) Nr. 6, S. 656 - 661Online Volltext: dx.doi.org/
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Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar SyndromeIn: American Journal of Human Genetics Jg. 86 (2010) Nr. 2, S. 254 - 261Online Volltext: dx.doi.org/
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MACS syndrome : A combined collagen and elastin disorder due to abnormal Golgi trafficking : Letter to the editorIn: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 11, S. 2916 - 2918Online Volltext: dx.doi.org/
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Prader-Willi-Syndrom und Angelman-SyndromIn: Medizinische Genetik Jg. 22 (2010) Nr. 4, S. 392 - 398Online Volltext: dx.doi.org/
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Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndromeIn: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 1, S. 181 - 184Online Volltext: dx.doi.org/
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CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)In: European Journal of Medical Genetics (EJMG) Jg. 48 (2005) Nr. 2, S. 153 - 158Online Volltext: dx.doi.org/
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Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndromeIn: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 355 - 356
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UBQLN4 represses homologous recombination and is overexpressed in aggressive tumors
Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Medizinische Onkologie, 11. - 14. Oktober 2019, Berlin, Germany,In: Oncology Research and Treatment Jg. 42 (2019) Nr. Supplement 4: Abstracts, S. 25 - 26Online Volltext: dx.doi.org/ (Open Access)