Results 141 to 150 of about 1,774 (212)

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. [PDF]

BMC Med Genomics
Sattar S, Bharadwaj T, Kalsoom UE, Acharya A, Khan S, Leal SM, Schrauwen I.   +6 more
europepmc   +1 more source

Zinc as a Biomarker of Nutritional Status and Clinical Burden in Recessive Dystrophic Epidermolysis Bullosa: Implications for Preventive Monitoring. [PDF]

Nutrients
Quintana-Castanedo L, Maseda R, Sánchez-Ramón S, Butta N, Molero-Luis M, Crespo MG, Buño A, Herráiz-Gil S, León C, Varas A, Fernández-Sevilla LM, Zuluaga P, de Lucas R, Del Río M, Vicente Á, Escámez MJ, Sacedón R.   +16 more
europepmc   +1 more source

Human urine-derived stem cells rescue cutaneous manifestation and suppress inflammation and fibrosis <i>in vitro</i> and in a mouse model of recessive dystrophic epidermolysis bullosa. [PDF]

Burns Trauma
Zhou X, Tan J, Song Y, Liu P, Zhang X, Feng X, Xiao Y, Wang Y, Liu G, Zhang W, Zhang Q, Jiang Y, Liu Y, Zhao L, Xie H, Li W.   +15 more
europepmc   +1 more source

Assessment of Growth Hormone and Insulin-like Growth Factor 1 in Children with Epidermolysis Bullosa Dystrophica [PDF]

Mohammad El Darouti, Iman Sany Zaki, Noha Musa, Hagar El Sayed   +3 more
openalex   +1 more source

Mesenchymal stromal cell therapy in epidermolysis bullosa: current perspectives and future directions. [PDF]

Front Cell Dev Biol
Sia T, Primavera R, Johnson MR, Dukkipati HS, Teng JMC, Thakor AS.   +5 more
europepmc   +1 more source

Epidermolysis Bullosa Dystrophica: Report of a Case with Special Reference to Its Oral Findings

, 1955
Toru Oka, Hiromi Someya, Yasutosi Takeda
openalex   +2 more sources

Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation. [PDF]

J Med Genet
Warshauer EM, Maier PA, Runfeldt G, Fuentes I, Escamez MJ, Valinotto L, Natale M, Manzur G, Illera N, Garcia M, Del Rio M, Mencia A, Holguin A, Larcher F, Hellenthal G, Brown AR, Consuegra L, Rivera C, Nogueiro I, Tang J, Oro A, Marinkovich P, Palisson F, Titeux M, Hovnanian AA, Sprecher E, Skorecki K, Norris D, Bruckner A, Kogut I, Bilousova G, Roop D.   +31 more
europepmc   +1 more source

A Rare Cause of Childhood Nephrotic Syndrome: AA Amyloidosis in Epidermolysis Bullosa. [PDF]

Cureus
Gulmez R, Yilmaz S, Saygili S, Hurdogan O, Agbas A, Karabag Yilmaz E, Apaydın Sever G, Canpolat N.   +7 more
europepmc   +1 more source

Epidermolysis Bullosa Dystrophica et Albo-Papuloidea (Pasini), Especially on Its Etiology

, 1975
Hiroshi Kuwahara
openalex   +1 more source

Novel human pathological mutations. Gene symbol: HBA1. Disease: haemoglobin variant [PDF]

, 2009
Cappellini, M. D., Gensini, Francesca, Refaldi, C.   +2 more
core