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Hallopeau-Siemens Disease

Known as: Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type, Hallopeau Siemens Disease, EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE 
National Institutes of Health

Related topics

Related topics

21 relations
AlopeciaAutosomal recessive inheritanceCataractCockayne-Touraine Disease

Broader (1)

Epidermolysis Bullosa Dystrophica

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa.
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) patients have mutations in the COL7A1 gene and thus lack functional… 
Highly Cited
2011
Highly Cited
2011
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa.
Functional defects in type VII collagen, caused by premature termination codons on both alleles of the COL7A1 gene, are… 
Highly Cited
2010
Highly Cited
2010
Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive…
In animal models it has been shown that mesenchymal stromal cells (MSC) contribute to skin regeneration and accelerate wound… 
Highly Cited
2009
Highly Cited
2009
Secondary neutron spectra from modern Varian, Siemens, and Elekta linacs with multileaf collimators.
Neutrons are a by-product of high-energy x-ray radiation therapy (threshold for [gamma,n] reactions in high-Z material -7 MeV… 
Highly Cited
2003
Highly Cited
2003
The species-specific egg receptor for sea urchin sperm adhesion is EBR1,a novel ADAMTS protein.
Species-specific adhesion of sperm to the egg during sea urchin fertilization involves the interaction of the sperm adhesive… 
Highly Cited
2003
Highly Cited
2003
Ionization chamber dosimetry of small photon fields: a Monte Carlo study on stopping-power ratios for radiosurgery and IMRT beams.
Absolute dosimetry with ionization chambers of the narrow photon fields used in stereotactic techniques and IMRT beamlets is… 
Highly Cited
2002
Highly Cited
2002
Stable nonviral genetic correction of inherited human skin disease
Current gene-transfer technologies display limitations in achieving effective gene delivery. Among these limitations are… 
Highly Cited
1997
Highly Cited
1997
Postural hypotension and EEG variables predict cognitive decline: results from a 5-year follow-up of healthy elderly women.
Quantified electroencephalographic activity (EEG) has been used to study normal ageing and dementia. Few studies have described… 
Highly Cited
1993
Highly Cited
1993
A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa
The Hallopeau–Siemens type of recessive dystrophic epidermolysis bullosa (HS–RDEB) is a life–threatening autosomal disease… 
Highly Cited
1962
Highly Cited
1962
Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas.
Tuberous sclerosis is a disease entity with protean manifestations, reported as being present in every organ and almost every… 
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