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Miriam Elbracht (1979-)

Ärztin

Name	Miriam Elbracht
Time	1979- (Date of birth and death)
Place	Wipperfürth (Geburtsort) Deutschland
Academic degree	Dr. med. habil.
Profession	Ärztin (characteristic profession)
Variant	Miriam Mavany (früherer Name) M. Elbracht
Further information	Dissertation (2004) und Habilitationsschrift (2020) an der Rheinisch-Westfälischen Technischen Hochschule Aachen, Medizinische Fakultät
Source	Dissertation und Habilitationsschrift
Record type	Person
GND-Identifier	12981525X
Record ID	12981525X
Involved in show all Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Precision medicine Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies Stand der humangenetischen Versorgung in der Pädiatrie : Antworten auf die zwölf wichtigsten Fragen Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : Protocol of a prospective multicenter phase 2 trial Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : : Protocol of a prospective multicenter phase 2 trial = Kombination von Nivolumab mit Standard-Induktionschemotherapie bei Kindern und Erwachsenen mit EBV-positivem Nasopharynxkarzinom : Protokoll einer prospektiven multizentrischen Phase-II-Studie Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders Human genetic diagnostics in oncologic diseases. Importance of tumor risk syndromes for treatment and prevention Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach 3-jähriger Patient mit bilateralen Wilms-Tumoren : Vorbereitung auf die Facharztprüfung: Fall 107 DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach PHIP-associated Chung-Jansen syndrome : Report of 23 new individuals Prenatal testing for Imprinting Disorders : A clinical perspective Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven Unusual phenotypes in patients with a pathogenic germline variant in DICER1 Aggressive infantile myofibromatosis with intestinal involvement One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome Aggressive infantile myofibromatosis with intestinal involvement Corrigendum to: Clinical spectrum and management of imprinting disorders Molecular pathophysiology of human MICU1‐deficiency One test for all : whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome Unusual phenotypes in patients with a pathogenic germline variant in DICER1 Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles Mono- und epigenetische Ursachen von Wachstums- und Gedeihstörungen Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation Germline Mutations Predispose to Pediatric Medulloblastoma Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers Beckwith-Wiedemann-Syndrom (BWS): Aktueller Stand der Diagnostik und des klinischen Managements Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency Diagnosis and management of Silver-Russell syndrome: first international consensus statement Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome : Ein klinisches und molekulares Update

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Katalog der Deutschen Nationalbibliothek

Miriam Elbracht (1979-)

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders

Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Precision medicine

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders

Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort

Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype

Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors

Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Stand der humangenetischen Versorgung in der Pädiatrie : Antworten auf die zwölf wichtigsten Fragen

Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : Protocol of a prospective multicenter phase 2 trial

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

Human genetic diagnostics in oncologic diseases. Importance of tumor risk syndromes for treatment and prevention

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

3-jähriger Patient mit bilateralen Wilms-Tumoren : Vorbereitung auf die Facharztprüfung: Fall 107

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

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

Prenatal testing for Imprinting Disorders : A clinical perspective

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Aggressive infantile myofibromatosis with intestinal involvement

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Aggressive infantile myofibromatosis with intestinal involvement

Corrigendum to: Clinical spectrum and management of imprinting disorders

Molecular pathophysiology of human MICU1‐deficiency

One test for all : whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Mono- und epigenetische Ursachen von Wachstums- und Gedeihstörungen

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

Germline Mutations Predispose to Pediatric Medulloblastoma

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

Beckwith-Wiedemann-Syndrom (BWS): Aktueller Stand der Diagnostik und des klinischen Managements

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome : Ein klinisches und molekulares Update