All Fields
Computer Science
Medicine
FAQ
Contact
Sign in
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Known as:
Dystrophic Epidermolysis Bullosa, Autosomal Dominant
, DDEB
, Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Â
(More)
Â
Topic mentions per year
Topic mentions per year
1987-2017
0
2
4
1987
2017
Related topics
Related topics
7 relations
Atrophic scars
Autosomal dominant inheritance
Dystrophia unguium
Epidermolysis Bullosa Dystrophica
(More)
Related mentions per year
Related mentions per year
1937-2018
1940
1960
1980
2000
2020
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Autosomal dominant inheritance
Dystrophia unguium
Epidermolysis Bullosa Dystrophica
Milium Cyst
Atrophic scars
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Peter C van den Akker
,
Marcel F. Jonkman
,
+11 authors
Morris A. Swertz
Human mutation
2011
Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or…Â
(More)
Is this relevant?
2009
2009
Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.
Anja Fritsch
,
Sashko Gregoriev Spassov
,
+4 authors
Leena Bruckner-Tuderman
The Journal of biological chemistry
2009
Dominant-negative interference by glycine substitution mutations in the COL7A1 gene causes dominant dystrophic epidermolysis…Â
(More)
Is this relevant?
2005
2005
Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size.
J G Fine
,
L B Johnson
,
M. Weiner
,
Chirayath M. Suchindran
The British journal of dermatology
2005
BACKGROUND The presence in a family of a child or children with epidermolysis bullosa (EB) may have profound psychological…Â
(More)
Is this relevant?
2004
2004
Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa.
J T Fine
,
L B Johnson
,
M. Weiner
,
Chirayath M. Suchindran
Clinical and experimental dermatology
2004
A standardized questionnaire was used to assess mobility, activity and pain in 140 randomly chosen children, who were…Â
(More)
Is this relevant?
2004
2004
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
Hiroyuki Nakamura
,
Daisuke Sawamura
,
+5 authors
Hiroshi Shimizu
Journal of dermatological science
2004
BACKGROUND Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also…Â
(More)
Is this relevant?
2002
2002
The clinical spectrum of dystrophic epidermolysis bullosa.
Hooley Horn
,
M. J. Tidman
The British journal of dermatology
2002
BACKGROUND Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type…Â
(More)
Is this relevant?
2001
2001
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
Peter B. Cserhalmi-Friedman
,
Mónica Garzón
,
+4 authors
Angela M. Christiano
The Journal of investigative dermatology
2001
Peter B Cserhalmi-Friedman, Maria C Garzon, Edwin Guzman, Amalia Martinez-Mir, Wendy K Chung, Kwame Anyane-Yeboa and Angela M…Â
(More)
Is this relevant?
1997
1997
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
Akira Kon
,
Koji Nomura
,
Leena Pulkkinen
,
Daisuke Sawamura
,
I. Hashimoto
,
Jessica Uitto
The Journal of investigative dermatology
1997
Mutations in the type VII collagen gene (COL7A1) have been shown to underlie dystrophic epidermolysis bullosa (DEB). The…Â
(More)
Is this relevant?
1995
1995
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
Angela M. Christiano
,
J. Y. Lee
,
W. J. Chen
,
S Laforgia
,
Jessica Uitto
Human molecular genetics
1995
Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with…Â
(More)
Is this relevant?
1992
1992
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
Merja J Ryynänen
,
Joonas Ryynänen
,
Stephan Sollberg
,
Renato V. Iozzo
,
Robert Knowlton
,
Jessica Uitto
The Journal of clinical investigation
1992
Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the…Â
(More)
Is this relevant?