Personensuche
Personensuche
Es wurde 1 Person gefunden.
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.
-
FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational FamilyIn: Genes, Jg. 14, 2023, Nr. 3DOI (Open Access)
-
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasIn: The American Journal of Human Genetics, Jg. 106, 2020, Nr. 6, S. 830 – 845DOI (Open Access)
-
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesIn: Clinical Genetics, Jg. 96, 2019, Nr. 3, S. 246 – 253
-
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive TumorsIn: Cell, Jg. 176, 2019, Nr. 3, S. 505 – 519.e22DOI (Open Access)
-
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsIn: Brain: A Journal of Neurology, Jg. 141, 2018, Nr. 8, S. 2299 – 2311DOI, Online Volltext (Open Access)
-
De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderIn: The American Journal of Human Genetics, Jg. 102, 2018, Nr. 6, S. 1195 – 1203DOI (Open Access)
-
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 – 768DOI, Online Volltext (Open Access)
-
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 – 479DOI, Online Volltext (Open Access)
-
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryIn: Human Mutation, Jg. 39, 2018, Nr. 8, S. 1126 – 1138DOI, Online Volltext (Open Access)
-
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable conditionIn: European Journal of Human Genetics, Jg. 25, 2017, Nr. 2, S. 183 – 191DOI (Open Access)
-
Cantú Syndrome Associated with Ovarian AgenesisIn: Molecular Syndromology, Jg. 8, 2017, Nr. 4, S. 206 – 210DOI (Open Access)
-
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 – 443
-
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotypeIn: Human Genetics, Jg. 136, 2017, Nr. 3, S. 297 – 305
-
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityIn: Human Genetics, Jg. 136, 2017, Nr. 7, S. 821 – 834
-
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 – 192DOI, Online Volltext (Open Access)
-
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 – 945
-
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDIn: European Journal of Human Genetics, Jg. 25, 2017, Nr. 7, S. 889 – 893
-
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 – 1286DOI (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 – 573
-
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 – 1729
-
A novel large deletion of the ICR1 region including H19 and putative enhancer elementsIn: BMC Medical Genetics, Jg. 16, 2015, S. 30DOI (Open Access)
-
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
-
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 – 568
-
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeIn: European Journal of Human Genetics, Jg. 23, 2015, Nr. 6, S. 753 – 760DOI (Open Access)
-
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeIn: European Journal of Medical Genetics (EJMG), Jg. 58, 2015, Nr. 5, S. 279 – 292DOI (Open Access)
-
Splitting versus lumping : Temple–Baraitser and Zimmermann–Laband syndromesIn: Human Genetics, Jg. 134, 2015, Nr. 10, S. 1089 – 1097
-
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 – 70
-
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown SyndromeIn: The American Journal of Human Genetics, Jg. 95, 2014, Nr. 6, S. 698 – 707DOI, Online Volltext (Open Access)
-
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardationIn: Renal Failure, Jg. 36, 2014, Nr. 4, S. 619 – 622DOI (Open Access)
-
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndromeIn: European Journal of Medical Genetics (EJMG), Jg. 56, 2013, Nr. 12, S. 689 – 694
-
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 – 5135
-
A new face of Borjeson-Forssman-Lehmann syndrome? : De novo mutations in PHF6 in seven females with a distinct phenotypeIn: Journal of Medical Genetics (eJMG), Jg. 50, 2013, Nr. 12, S. 838 – 847
-
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeIn: Human Genetics, Jg. 132, 2013, Nr. 8, S. 885 – 898
-
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. 110DOI (Open Access)
-
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9In: American Journal of Medical Genetics, Part A, Jg. 161, 2013, Nr. 2, S. 295 – 300
-
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityIn: Orphanet Journal of Rare Diseases, Jg. 8, 2013, Nr. 1, S. 146DOI (Open Access)
-
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.In: Molecular Syndromology, Jg. 3, 2012, Nr. 5, S. 223 – 229
-
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeIn: Molecular Syndromology, Jg. 2, 2012, Nr. 2, S. 53 – 59
-
RAD21 mutations cause a human cohesinopathyIn: The American Journal of Human Genetics, Jg. 90, 2012, Nr. 6, S. 1014 – 1027DOI, Online Volltext (Open Access)
-
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type IIn: European Journal of Medical Genetics (EJMG), Jg. 54, 2011, Nr. 4, S. e405 – e408
-
A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene : Letter to the EditorIn: Journal of the European Academy of Dermatology and Venereology, Jg. 24, 2010, Nr. 5, S. 612 – 614
-
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1In: American Journal of Medical Genetics, Part A, Jg. 152, 2010, Nr. 5, S. 1213 – 1224
-
Left-ventricular non-compaction (LVNC) : a clinical feature more often observed in terminal deletion 1p36 than previously expectedIn: European Journal of Medical Genetics (EJMG), Jg. 51, 2008, Nr. 6, S. 685 – 688
-
Tricho-rhino-phalangeal syndrome with supernumerary teethIn: Journal of Dental Research: JDR Online, Jg. 87, 2008, Nr. 11, S. 1027 – 1031
-
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. Basel: Karger, Jg. 42, 2019, Nr. Supplement 4: Abstracts, S. 25 – 26DOI (Open Access) -
Tricho-rhino-phalangeal syndrome in girl with chronic renal failure and severe growth deficiency
15th Congress of the International Pediatric Nephrology Association ; 29 August – 2 September, 2010, New York, NY, USA,In: Pediatric Nephrology. Berlin: Springer, Jg. 25, 2010, Nr. 9, S. 1919