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Refinado por: assunto: Dermatology remover
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11
QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study
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QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study

Bornert, Olivier ; Hogervorst, Marieke ; Nauroy, Pauline ; Bischof, Johannes ; Swildens, Jim ; Athanasiou, Ioannis ; Tufa, Sara F. ; Keene, Douglas R. ; Kiritsi, Dimitra ; Hainzl, Stefan ; Murauer, Eva M. ; Marinkovich, M. Peter ; Platenburg, Gerard ; Hausser, Ingrid ; Wally, Verena ; Ritsema, Tita ; Koller, Ulrich ; Haisma, Elisabeth M. ; Nyström, Alexander

Journal of investigative dermatology, 2021-04, Vol.141 (4), p.883-893.e6 [Periódico revisado por pares]

United States: Elsevier Inc

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12
Mechanisms of skin adherence and invasion by dermatophytes
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Artigo
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Mechanisms of skin adherence and invasion by dermatophytes

Baldo, A. ; Monod, M. ; Mathy, A. ; Cambier, L. ; Bagut, E. T. ; Defaweux, V. ; Symoens, F. ; Antoine, N. ; Mignon, B.

Mycoses, 2012-05, Vol.55 (3), p.218-223 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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13
An ex vivo RNA trans‐splicing strategy to correct human generalized severe epidermolysis bullosa simplex
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Artigo
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An ex vivo RNA trans‐splicing strategy to correct human generalized severe epidermolysis bullosa simplex

Peking, P. ; Breitenbach, J.S. ; Ablinger, M. ; Muss, W.H. ; Poetschke, F.J. ; Kocher, T. ; Koller, U. ; Hainzl, S. ; Kitzmueller, S. ; Bauer, J.W. ; Reichelt, J. ; Lettner, T. ; Wally, V.

British journal of dermatology (1951), 2019-01, Vol.180 (1), p.141-148 [Periódico revisado por pares]

England: Oxford University Press

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14
High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany
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High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Frommherz, L. ; Krause, A. ; Kopp, J. ; Hotz, A. ; Hübner, S. ; Reimer‐Taschenbrecker, A. ; Casetti, F. ; Zirn, B. ; Fischer, J. ; Has, C.

Journal of the European Academy of Dermatology and Venereology, 2021-11, Vol.35 (11), p.2293-2299 [Periódico revisado por pares]

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15
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands
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Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

Yuen, W.Y. ; Lemmink, H.H. ; van Dijk-Bos, K.K. ; Sinke, R.J. ; Jonkman, M.F.

British journal of dermatology (1951), 2011-12, Vol.165 (6), p.1314-1322 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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16
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
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Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon

Pacho, Frederic ; Zambruno, Giovanna ; Calabresi, Valentina ; Kiritsi, Dimitra ; Schneider, Holm

Journal of medical genetics, 2011-09, Vol.48 (9), p.640-644 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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17
A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration
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Artigo
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A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration

Di Zenzo, G. ; El Hachem, M. ; Diociaiuti, A. ; Boldrini, R. ; Calabresi, V. ; Cianfarani, F. ; Fortugno, P. ; Piccinni, E. ; Zambruno, G. ; Castiglia, D.

British journal of dermatology (1951), 2014-05, Vol.170 (5), p.1056-1064 [Periódico revisado por pares]

Oxford: Blackwell Publishing Ltd

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18
A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations
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A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations

Koss-Harnes, Dörte ; Høyheim, Bjørn ; Anton-Lamprecht, Ingrun ; Gjesti, Aud ; Jørgensen, Randi S. ; Jahnsen, Frode L. ; Olaisen, Bjørnar ; Wiche, Gerhard ; Gedde-Dahl, Tobias

Journal of investigative dermatology, 2002-01, Vol.118 (1), p.87-93 [Periódico revisado por pares]

Danvers, MA: Elsevier Inc

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19
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
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Artigo
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

van den Akker, Peter C ; Mellerio, Jemima E ; Martinez, Anna E ; Liu, Lu ; Meijer, Rowdy ; Dopping-Hepenstal, Patricia J C ; van Essen, Anthonie J ; Scheffer, Hans ; Hofstra, Robert M W ; McGrath, John A ; Jonkman, Marcel F

Journal of medical genetics, 2011-03, Vol.48 (3), p.160-167 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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20
Inherited Junctional Epidermolysis Bullosa in the German Pointer: Establishment of a Large Animal Model
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Artigo
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Inherited Junctional Epidermolysis Bullosa in the German Pointer: Establishment of a Large Animal Model

Capt, Annabelle ; Spirito, Flavia ; Guaguere, Eric ; Spadafora, Anne ; Ortonne, Jean-Paul ; Meneguzzi, Guerrino

Journal of investigative dermatology, 2005-03, Vol.124 (3), p.530-535 [Periódico revisado por pares]

United States: Elsevier Inc

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