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Anna Maria Gerdina Pasmooij
Anna Maria Gerdina Pasmooij
Dutch Medicines Evaluation Board / Utrecht University
在 cbg-meb.nl 的电子邮件经过验证
标题
引用次数
引用次数
年份
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
MF Jonkman, AMG Pasmooij, SGMA Pasmans, MP van den Berg, ...
The American Journal of Human Genetics 77 (4), 653-660, 2005
2752005
High-efficiency RNA-based reprogramming of human primary fibroblasts
I Kogut, SM McCarthy, M Pavlova, DP Astling, X Chen, A Jakimenko, ...
Nature communications 9 (1), 745, 2018
1492018
Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa
N Umegaki-Arao, AMG Pasmooij, M Itoh, JE Cerise, Z Guo, B Levy, ...
Science translational medicine 6 (264), 264ra164-264ra164, 2014
1402014
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
AMG Pasmooij, HH Pas, MC Bolling, MF Jonkman
The Journal of clinical investigation 117 (5), 1240-1248, 2007
1222007
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
AMG Pasmooij, HH Pas, FCL Deviaene, M Nijenhuis, MF Jonkman
The American Journal of Human Genetics 77 (5), 727-740, 2005
992005
Revertant mosaicism—patchwork in the skin
MF Jonkman, AMG Pasmooij
New England Journal of Medicine 360 (16), 1680-1682, 2009
962009
Modeling inducible human tissue neoplasia identifies an extracellular matrix interaction network involved in cancer progression
JA Reuter, S Ortiz-Urda, M Kretz, J Garcia, FA Scholl, AMG Pasmooij, ...
Cancer cell 15 (6), 477-488, 2009
922009
Successful therapeutic transplantation of revertant skin in epidermolysis bullosa
A Gostyński, AMG Pasmooij, MF Jonkman
Journal of the American Academy of Dermatology 70 (1), 98-101, 2014
852014
Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy
A Gostynski, FCL Deviaene, AMG Pasmooij, HH Pas, MF Jonkman
British Journal of Dermatology 161 (2), 444-447, 2009
842009
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations
AMG Pasmooij, M Nijenhuis, R Brander, MF Jonkman
Journal of investigative dermatology 132 (5), 1374-1383, 2012
812012
Revertant mosaicism in heritable skin diseases—mechanisms of natural gene therapy
AMG Pasmooij, MF Jonkman, J Uitto
Discovery medicine 14 (76), 167-179, 2012
782012
Antisense oligonucleotide-mediated exon skipping as a systemic therapeutic approach for recessive dystrophic epidermolysis bullosa
J Bremer, O Bornert, A Nyström, A Gostynski, MF Jonkman, ...
Molecular Therapy-Nucleic Acids 5, 2016
742016
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
D Kiritsi, Y He, AMG Pasmooij, M Onder, R Happle, MF Jonkman, ...
The Journal of clinical investigation 122 (5), 1742-1746, 2012
702012
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex
KB Gostyńska, M Nijenhuis, H Lemmink, HH Pas, AMG Pasmooij, ...
Human molecular genetics 24 (11), 3155-3162, 2015
682015
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
AMG Pasmooij, M Garcia, MJ Escamez, AM Nijenhuis, A Azon, ...
Journal of investigative dermatology 130 (10), 2407-2411, 2010
682010
Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?
R Baardman, VK Yenamandra, JC Duipmans, AMG Pasmooij, ...
Journal of the European Academy of Dermatology and Venereology 35 (4), 995-1006, 2021
622021
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands
AMG Pasmooij, HH Pas, GHL Jansen, HH Lemmink, MF Jonkman
British Journal of Dermatology 156 (5), 861-870, 2007
592007
Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy
O Bornert, T Kühl, J Bremer, PC Van Den Akker, AMG Pasmooij, ...
Molecular Therapy 24 (7), 1302-1311, 2016
582016
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa
WY Yuen, AMG Pasmooij, C Stellingsma, MF Jonkman
Acta dermato-venereologica 92 (6), 695-696, 2012
582012
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa
D Kiritsi, M Garcia, R Brander, C Has, R Meijer, MJ Escámez, J Kohlhase, ...
Journal of Investigative Dermatology 134 (8), 2097-2104, 2014
562014
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