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Franziska Ringpfeil
Observed names:
F Ringpfeil,
F. Ringpfeil,
Ringpfeil, F.
Observed institutions:
Thomas Jefferson University,
Thomas Jefferson University Hospital,
Icahn School of Medicine at Mount Sinai
ORCID:
0000-0003-4812-4734
Observed ORCID:
0000-0003-4812-4734
OpenAlex ID:
A5028808744
Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
2000
·
Franziska Ringpfeil
, Mark G. Lebwohl
, et al.
·
Proceedings of the National Academy of Sciences
·
394
Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene
2003
·
Dessislava Markova
, Yaqun Zou
, et al.
·
The American Journal of Human Genetics
·
153
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment–genome interface?
2001
·
Jouni Uitto
, Leena Pulkkinen
, et al.
·
Trends in Molecular Medicine
·
120
Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation
2001
·
F. Ringpfeil
, A. Raus
, et al.
·
Experimental Dermatology
·
119
Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity
2006
·
Franziska Ringpfeil
, Kelly McGuigan
, et al.
·
Journal of Investigative Dermatology
·
85
PDF
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
2001
·
Leena Pulkkinen
, Aoi Nakano
, et al.
·
Human Genetics
·
83
Molecular genetics of pseudoxanthoma elasticum
2001
·
F. Ringpfeil
, L. Pulkkinen
, et al.
·
Experimental Dermatology
·
82
PDF
Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum
2001
·
Franziska Ringpfeil
, Aoi Nakano
, et al.
·
The American Journal of Human Genetics
·
81
PDF
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
2000
·
Li Cai
, Berthold Struk
, et al.
·
Journal of Molecular Medicine
·
63
Progress in heritable skin diseases: Molecular bases and clinical implications
2002
·
Leena Pulkkinen
, Franziska Ringpfeil
, et al.
·
Journal of the American Academy of Dermatology
·
44
Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis
2005
·
Franziska Ringpfeil
·
Clinics in Dermatology
·
40
Large, Papillomatous, Pedunculated Nevus Sebaceus: A New Phenotype
2008
·
Dana Correale
, Franziska Ringpfeil
, et al.
·
Pediatric Dermatology
·
24
Disseminated Cryptococcus neoformans after treatment with infliximab for rheumatoid arthritis
2008
·
Heidi Kozic
, Karen Riggs
, et al.
·
Journal of the American Academy of Dermatology
·
22
Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum
2002
·
Jouni Uitto
, Leena Pulkkinen
, et al.
·
Journal of Investigative Dermatology Symposium Proceedings
·
20
Ibuprofen-induced bullous leukocytoclastic vasculitis.
2001
·
K A Davidson
, F Ringpfeil
, et al.
·
PubMed
·
18
Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa
2020
·
Taylor Phillips
, Leonie Huitema
, et al.
·
Journal of Dermatological Science
·
16
PDF
T‐cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients
2022
·
Vitali Alexeev
, Leonie Huitema
, et al.
·
Experimental Dermatology
·
14
Pseudoxanthoma Elasticum: A Streamlined, Ethnicity‐based Mutation Detection Strategy
2010
·
Jennifer LaRusso
, Franziska Ringpfeil
, et al.
·
Clinical and Translational Science
·
13
Ehlers–Danlos Syndrome—Molecular Genetics Beyond the Collagens
2004
·
Jouni Uitto
, Franziska Ringpfeil
·
Journal of Investigative Dermatology
·
9
Mutations in the MRP6 Gene Cause Pseudoxanthoma Elasticum.
2000
·
Franziska Ringpfeil
, Mark G. Lebwohl
, et al.
·
Journal of Investigative Dermatology
·
5
The necrolytic erythemas: a continuous spectrum?
2011
·
Adam Woldow
, Janelle Shield Manton
, et al.
·
PubMed
·
2
Pseudoxanthoma Elasticum
2004
·
Franziska Ringpfeil
, Jouni Uitto
·
Informa Healthcare eBooks
·
2
Cross-sectional analysis of wound-associated soluble factors in early, established, and chronic wounds of recessive dystrophic epidermolysis bullosa patients
2025
·
Vitali Alexeev
, Leonie Huitema
, et al.
·
Archives of Dermatological Research
·
1
PDF
Connective Tissue Disorders
2007
·
Jouni Uitto
, Franziska Ringpfeil
·
Humana Press eBooks
·
1
Untitled
2005
·
Franziska Ringpfeil
·
Clinics in Dermatology
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Works count:
29
Citation count:
1,411
H-index:
16
I10-index:
18
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