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Peter van den Akker
Peter van den Akker
Clinical Geneticist & Clinical Research Fellow
Geverifieerd e-mailadres voor umcg.nl
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Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy
SJ Brown, Y Asai, HJ Cordell, LE Campbell, Y Zhao, H Liao, K Northstone, ...
Journal of allergy and clinical immunology 127 (3), 661-667, 2011
4852011
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
K Friedrich, L Lee, DF Leistritz, G Nürnberg, B Saha, FM Hisama, ...
Human genetics 128 (1), 103-111, 2010
982010
Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
P Deelen, S van Dam, JC Herkert, JM Karjalainen, H Brugge, KM Abbott, ...
Nature communications 10 (1), 1-13, 2019
962019
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations
PC Van den Akker, MF Jonkman, T Rengaw, L Bruckner‐Tuderman, ...
Human mutation 32 (10), 1100-1107, 2011
942011
Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
WS Kerstjens-Frederikse, GJDM Sarvaas, JS Ruiter, PC Van Den Akker, ...
Heart 97 (15), 1228-1232, 2011
742011
Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
WS Kerstjens-Frederikse, GJDM Sarvaas, JS Ruiter, PC Van Den Akker, ...
Heart 97 (15), 1228-1232, 2011
742011
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa
C Has, L Liu, MC Bolling, AV Charlesworth, M El Hachem, MJ Escámez, ...
The British journal of dermatology 182 (3), 574, 2020
732020
An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations
KJ van der Velde, HS Dhekne, MA Swertz, S Sirigu, V Ropars, PC Vinke, ...
Human Mutation 34 (12), 1597-1605, 2013
712013
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, e379, 2016
612016
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
532014
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
CL Navarro, V Esteves-Vieira, S Courrier, A Boyer, T Duong Nguyen, ...
European Journal of Human Genetics 22 (8), 1002-1011, 2014
512014
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
482016
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations
PC van den Akker, AJ van Essen, MMJ Kraak, R Meijer, M Nijenhuis, ...
Journal of dermatological science 56 (1), 9-18, 2009
472009
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families
TP Potjer, S Bollen, AJEM Grimbergen, R van Doorn, NA Gruis, ...
International journal of cancer 144 (10), 2453-2464, 2019
382019
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder …
ET Hoorntje, IA Bollen, DQ Barge-Schaapveld, FH van Tienen, ...
Circulation: Cardiovascular Genetics 10 (4), e001631, 2017
372017
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
PC Van den Akker, JE Mellerio, AE Martinez, L Liu, R Meijer, ...
Journal of medical genetics 48 (3), 160-167, 2011
362011
The molecular skin pathology of familial primary localized cutaneous amyloidosis
A Tanaka, JE Lai‐Cheong, PC Van Den Akker, N Nagy, G Millington, ...
Experimental dermatology 19 (5), 416-423, 2010
352010
Split hand/foot malformation due to chromosome 7q aberrations (SHFM1): additional support for functional haploinsufficiency as the causative mechanism
AT van Silfhout, PC van den Akker, T Dijkhuizen, JBGM Verheij, ...
European journal of human genetics 17 (11), 1432-1438, 2009
352009
Natural gene therapy in dystrophic epidermolysis bullosa
PC van den Akker, M Nijenhuis, G Meijer, RMW Hofstra, MF Jonkman, ...
Archives of dermatology 148 (2), 213-216, 2012
342012
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24
VK Yenamandra, PC van den Akker, HH Lemmink, SZ Jan, GFH Diercks, ...
The British journal of dermatology 179 (5), 1181-1183, 2018
252018
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Artikelen 1–20