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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
5362011
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
1232020
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), 2837, 2019
1202019
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
1052011
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, 103-111, 2010
1022010
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
842013
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
832011
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
832011
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
722016
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
622014
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
602016
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
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
542021
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
512009
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
482011
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
442017
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
432019
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
402010
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
402009
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24
VK Yenamandra, PC van den Akker, HH Lemmink, SZ Jan, GFH Diercks, ...
British Journal of Dermatology 179 (5), 1181-1183, 2018
392018
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Artikelen 1–20