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Dagmar Wieczorek (1967-)

Ärztin

Name	Dagmar Wieczorek
Time	1967- (Date of birth and death)
Place	Deutschland
Gender	weiblich
Academic degree	Prof. Dr. med.
Profession	Ärztin (characteristic profession) Hochschullehrerin
Related	Ruhr-Universität Bochum Universitätsklinikum Essen Universität Duisburg-Essen Universitätsklinikum Düsseldorf Humangenetik (Thema) Pädiatrie (Thema)
Source	https://www.uniklinik-duesseldorf.de/patienten-besucher/klinikeninstitutezentren/institut-fuer-humangenetik/team-kontakt/lebenslauf-d-wieczorek (Stand: 16.12.2024)
Record type	Person
GND-Identifier	172786827
Record ID	172786827
Involved in show all Implementation of human genetic counseling in the MZEB (Medical Center for Adults with disabilities) at the psychiatric LVR Clinic Bedburg-Hau Adult syndromology: challenges, opportunities and perspectives : Illustrated by the description of four adults with Costello syndrome Syndromology at the interface of evolving phenotypes, epimutations, and model systems Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature Prophylaktische Mastektomie und Adnexektomie bei BRCA1- und BRCA2-Genmutationsträgerinnen - Erfahrungen eines Zentrums im Rahmen des Konsortiums für familiären Brust- und Eierstockkrebs Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution PHIP-associated Chung-Jansen syndrome : Report of 23 new individuals RANBP2 mutation mimicking viral encephalitis Progenitor cells derived from gene‐engineered human induced pluripotent stem cells as synthetic cancer cell alternatives for in vitro pharmacology Staffelübergabe in der Redaktionsleitung Mutational analysis of high-risk pediatric tumors Neurological manifestations in children and adolescents with neurofibromatosis type-1-implications for management and surveillance [Abstract] Stellenwert von somatischen Genmutationen auf die Prognose von Patienten mit Myelodysplastischen Syndromen sowie deren Assoziation zu Komorbiditäten Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype Biallelic variants in YRDC cause a developmental disorder with progeroid features The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype Case report: Severe neonatal course in paternally derived familial hypocalciuric hypercalcemia Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 SARS ‐CoV‐2 targets neurons of 3D human brain organoids QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum The macrophage migration inhibitory factor (mif) promoter polymorphisms (rs3063368, rs755622) predict acute kidney injury and death after cardiac surgery The Macrophage Migration Inhibitory Factor (MIF) promoter polymorphisms (rs3063368, rs755622) predict acute kidney injury and death after cardiac surgery Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autosomal dominant intellectual disability Genetik von Intelligenz und kognitiven Störungen – ein komplexes, aber relevantes Thema nicht nur für die Humangenetik Family-based germline sequencing in children with cancer Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies Genetics of intellectual disability in consanguineous families Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 Die Bedeutung der Histondemethylasen UTX und JMJD3 im Harnblasenkarzinom Epigenetische Veränderungen im Prostatakarzinom - eine in silico Analyse Correction to: Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes Korrelation der Methylmalonsäurekonzentration im Urin und der Entwicklung einer chronischen Niereninsuffizienz bei Kindern mit Methylmalonazidurie Rare Copy Number Variants Are a Common Cause of Short Stature Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum Homozygous truncating PTPRF mutation causes athelia X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene Integrative analysis revealed the molecular mechanism underlying RBM 10‐mediated splicing regulation A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene Rare Copy Number Variants Are a Common Cause of Short Stature

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Katalog der Deutschen Nationalbibliothek

Dagmar Wieczorek (1967-)

Implementation of human genetic counseling in the MZEB (Medical Center for Adults with disabilities) at the psychiatric LVR Clinic Bedburg-Hau

Adult syndromology: challenges, opportunities and perspectives : Illustrated by the description of four adults with Costello syndrome

Syndromology at the interface of evolving phenotypes, epimutations, and model systems

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Prophylaktische Mastektomie und Adnexektomie bei BRCA1- und BRCA2-Genmutationsträgerinnen - Erfahrungen eines Zentrums im Rahmen des Konsortiums für familiären Brust- und Eierstockkrebs

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution

PHIP-associated Chung-Jansen syndrome : Report of 23 new individuals

RANBP2 mutation mimicking viral encephalitis

Progenitor cells derived from gene‐engineered human induced pluripotent stem cells as synthetic cancer cell alternatives for in vitro pharmacology

Staffelübergabe in der Redaktionsleitung

Mutational analysis of high-risk pediatric tumors

Neurological manifestations in children and adolescents with neurofibromatosis type-1-implications for management and surveillance [Abstract]

Stellenwert von somatischen Genmutationen auf die Prognose von Patienten mit Myelodysplastischen Syndromen sowie deren Assoziation zu Komorbiditäten

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Biallelic variants in YRDC cause a developmental disorder with progeroid features

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Case report: Severe neonatal course in paternally derived familial hypocalciuric hypercalcemia

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

SARS ‐CoV‐2 targets neurons of 3D human brain organoids

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

The macrophage migration inhibitory factor (mif) promoter polymorphisms (rs3063368, rs755622) predict acute kidney injury and death after cardiac surgery

The Macrophage Migration Inhibitory Factor (MIF) promoter polymorphisms (rs3063368, rs755622) predict acute kidney injury and death after cardiac surgery

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Autosomal dominant intellectual disability

Genetik von Intelligenz und kognitiven Störungen – ein komplexes, aber relevantes Thema nicht nur für die Humangenetik

Family-based germline sequencing in children with cancer

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

Genetics of intellectual disability in consanguineous families

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

Die Bedeutung der Histondemethylasen UTX und JMJD3 im Harnblasenkarzinom

Epigenetische Veränderungen im Prostatakarzinom - eine in silico Analyse

Correction to: Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Korrelation der Methylmalonsäurekonzentration im Urin und der Entwicklung einer chronischen Niereninsuffizienz bei Kindern mit Methylmalonazidurie

Rare Copy Number Variants Are a Common Cause of Short Stature

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Homozygous truncating PTPRF mutation causes athelia

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Integrative analysis revealed the molecular mechanism underlying RBM 10‐mediated splicing regulation

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Rare Copy Number Variants Are a Common Cause of Short Stature