Hildegard Sawatzki-Kehrer

Albert Einstein Allee 11
Ulm, BW 89081, Germany

Last Updated: 09/26/2026

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Found 51 publications

Neurofibromatosis Type I: Consensus on Current Terminology for Neurofibromas, as a Basis for Recommendations on the Use of MEK Inhibitors.

Neurofibromatosis Type I: Consensus on Current Terminology for Neurofibromas, as a Basis for Recommendations on the Use of MEK Inhibitors.

Journal: Anticancer research

Published: April 29, 2026

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Journal: Familial cancer

Published: June 04, 2025

Identification of an NF1 Microdeletion with Optical Genome Mapping.

Identification of an NF1 Microdeletion with Optical Genome Mapping.

Journal: International journal of molecular sciences

Published: June 29, 2023

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

Journal: Human genetics

Published: August 02, 2022

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Journal: Human genetics

Published: November 02, 2021

Das NF1-Mikrodeletions-Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung.

Das NF1-Mikrodeletions-Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: September 29, 2021

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: September 29, 2021

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 19, 2021

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions.

Journal: Genes

Published: September 13, 2021

Distinct sequence features underlie microdeletions and gross deletions in the human genome.

Distinct sequence features underlie microdeletions and gross deletions in the human genome.

Journal: Human mutation

Published: September 10, 2021

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.

Journal: Human genetics

Published: July 12, 2021

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 21, 2020

Showing 1-12 of 51

Last Updated: 09/26/2026