Hildegard Kehrer-Sawatzki
Overview
Explore the profile of Hildegard Kehrer-Sawatzki including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
103
Citations
3317
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Buki G, Beko A, Bodor C, Urban P, Nemeth K, Hadzsiev K, et al.
Int J Mol Sci
. 2023 Sep;
24(17).
PMID: 37686382
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5-10% of the cases are caused by microdeletions involving the gene and its flanking...
2.
Fan C, Chen K, Wang Y, Ball E, Stenson P, Mort M, et al.
Hum Genet
. 2022 Nov;
142(2):245-274.
PMID: 36344696
Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying pathological mechanisms are often unclear. We collated a dataset comprising 224 human repeat expansions encompassing 203 different...
3.
Plotkin S, Messiaen L, Legius E, Pancza P, Avery R, Blakeley J, et al.
Genet Med
. 2022 Jun;
24(9):1967-1977.
PMID: 35674741
Purpose: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating...
4.
Kehrer-Sawatzki H, Bazner U, Kramer J, Lewerenz J, Pfeiffer C
J Dtsch Dermatol Ges
. 2022 Mar;
20(3):273-278.
PMID: 35304941
Neurofibromatose Typ-1 (NF1) ist ein Genodermatose, die häufig in der Dermatologie behandelt wird. Bei vielen Patienten mit NF1 wird die Diagnose aufgrund klinischer Merkmale erstellt wie Café-au-Lait-Flecken, Freckling und plexiformen...
5.
Kehrer-Sawatzki H, Bazner U, Kramer J, Lewerenz J, Pfeiffer C
J Dtsch Dermatol Ges
. 2022 Mar;
20(3):273-277.
PMID: 35246941
Neurofibromatosis type-1 (NF1) is a genodermatosis frequently encountered in general dermatology. In many patients, the diagnosis of NF1 is made clinically based on the presence of café-au-lait macules and skinfold...
6.
Kehrer-Sawatzki H, Cooper D
Hum Genet
. 2021 Dec;
141(2):177-191.
PMID: 34928431
Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life....
7.
Qi M, Stenson P, Ball E, Tainer J, Bacolla A, Kehrer-Sawatzki H, et al.
Hum Mutat
. 2021 Dec;
43(3):328-346.
PMID: 34918412
Microdeletions and gross deletions are important causes (~20%) of human inherited disease and their genomic locations are strongly influenced by the local DNA sequence environment. This notwithstanding, no study has...
8.
Kehrer-Sawatzki H, Wahllander U, Cooper D, Mautner V
Genes (Basel)
. 2021 Oct;
12(10).
PMID: 34681033
Patients with neurofibromatosis type 1 (NF1) and type 1 deletions often exhibit more severe clinical manifestations than patients with intragenic gene mutations, including facial dysmorphic features, overgrowth, severe global developmental...
9.
Kehrer-Sawatzki H, Cooper D
Hum Genet
. 2021 Sep;
140(12):1635-1649.
PMID: 34535841
An estimated 5-11% of patients with neurofibromatosis type-1 (NF1) harbour large deletions encompassing the NF1 gene and flanking regions. These NF1 microdeletions are subclassified into type 1, 2, 3 and...
10.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery R, Berman Y, et al.
Genet Med
. 2021 May;
23(8):1506-1513.
PMID: 34012067
Purpose: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS)....