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Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome

European journal of medical genetics, 2016-03, Vol.59 (3), p.133-142

2016

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Seeding the future: the natural history of RUNX1 deficiency

Blood, 2023-12, Vol.142 (25), p.2127

Ripperger, Tim

2023

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Genetische Tumorrisikosyndrome: Humangenetische Aspekte für Radiologen

Die Radiologie, 2022-12, Vol.62 (12), p.1012-1016

Ripperger, Tim

2022

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Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Cancers, 2022-07, Vol.14 (14), p.3431

2022

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MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

Haematologica (Roma), 2018-02, Vol.103 (2), p.e55

2018

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SPECTRUM OF CLINICAL PHENOTYPES AND SOMATIC VARIANTS IN RUNX1-ASSOCIATED FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

EJC paediatric oncology, 2023-12, Vol.2, p.100068, Article 100068

2023

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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

Breast cancer research : BCR, 2018-08, Vol.20 (1), p.87-87, Article 87

2018

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FUNCTIONAL ANALYSES OF RUNX1 VARIANTS IN THE CONTEXT OF FAMILIAL PLATELET DISORDER WIT PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

EJC paediatric oncology, 2023-12, Vol.2, p.100050, Article 100050

2023

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Genetic tumor risk syndromes : Human genetic aspects for radiologists

Radiologie (Heidelberg, Germany), 2022-12, Vol.62 (12), p.1012-1016

Ripperger, Tim

2022

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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1383-1389

2019

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Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence

Frontiers in oncology, 2021-04, Vol.11, p.627217-627217

2021

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Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation

Haematologica (Roma), 2010-05, Vol.95 (5), p.841-844

2010

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Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)

Diseases, 2019-04, Vol.7 (2), p.34

2019

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Supplemental Human Genetics Point of View

Deutsches Ärzteblatt international, 2019-04

2019

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Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency

Haematologica (Roma), 2011-12, Vol.96 (12), p.1892-1894

2011

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Induced G1 phase arrest of fast-dividing cells improves the quality of genomic profiles generated by array-CGH

BioTechniques, 2012-10, Vol.53 (4), p.245-248

2012

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

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GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia

Stem cell research, 2016-05, Vol.16 (3), p.677-681

2016

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Breast cancer susceptibility: current knowledge and implications for genetic counselling

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.722-731

2009

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Seltene Tumordispositionssyndrome mit Manifestation im Kindesalter

Medizinische Genetik, 2017-12, Vol.29 (3), p.283-295

2017

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Beyond Pathogenic IRUNX1/I Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Cancers, 2022-07, Vol.14 (14)

2022

Volltextzugriff (PDF)

Genetische Tumorrisikosyndrome

Radiologe, 2022-01, Vol.62 (12), p.1012-1016

Ripperger, Tim Dr

2022

Volltextzugriff (PDF)

On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer

Oncotarget, 2016-10, Vol.7 (41), p.67626-67649

2016

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Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle cell lymphomas

Haematologica (Roma), 2007-04, Vol.92 (4), p.460-468

2007

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Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome

Seeding the future: the natural history of RUNX1 deficiency

Genetische Tumorrisikosyndrome: Humangenetische Aspekte für Radiologen

Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

SPECTRUM OF CLINICAL PHENOTYPES AND SOMATIC VARIANTS IN RUNX1-ASSOCIATED FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

FUNCTIONAL ANALYSES OF RUNX1 VARIANTS IN THE CONTEXT OF FAMILIAL PLATELET DISORDER WIT PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

Genetic tumor risk syndromes : Human genetic aspects for radiologists

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation

Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)

Supplemental Human Genetics Point of View

Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency

Induced G1 phase arrest of fast-dividing cells improves the quality of genomic profiles generated by array-CGH

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia

Breast cancer susceptibility: current knowledge and implications for genetic counselling

Seltene Tumordispositionssyndrome mit Manifestation im Kindesalter

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Beyond Pathogenic IRUNX1/I Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Genetische Tumorrisikosyndrome

On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer

Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle cell lymphomas

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