Martijn H Breuning
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Explore the profile of Martijn H Breuning including associated specialties, affiliations and a list of published articles.
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Articles
112
Citations
3634
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Recent Articles
1.
Pierrache L, Kimchi A, Ratnapriya R, Roberts L, Astuti G, Obolensky A, et al.
Ophthalmology
. 2017 Apr;
124(7):992-1003.
PMID: 28412069
Purpose: To identify the genetic cause of and describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocoloboma. Design: Case series. Participants:...
2.
Haer-Wigman L, van Zelst-Stams W, Pfundt R, van den Born L, Klaver C, Verheij J, et al.
Eur J Hum Genet
. 2017 Feb;
25(5):591-599.
PMID: 28224992
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the...
3.
Leonhard W, Kunnen S, Plugge A, Pasternack A, Jianu S, Veraar K, et al.
J Am Soc Nephrol
. 2016 Mar;
27(12):3589-3599.
PMID: 27020852
Autosomal dominant polycystic kidney disease (ADPKD), characterized by the formation of numerous kidney cysts, is caused by PKD1 or PKD2 mutations and affects 0.1% of the population. Although recent clinical...
4.
Vasen H, Velthuizen M, Kleibeuker J, Menko F, Nagengast F, Cats A, et al.
Fam Cancer
. 2016 Mar;
15(3):429-35.
PMID: 26973060
The Dutch Hereditary Cancer Registry was established in 1985 with the support of the Ministry of Health (VWS). The aims of the registry are: (1) to promote the identification of...
5.
de Vor I, van der Meulen P, Bekker V, Verhard E, Breuning M, Harnisch E, et al.
J Clin Immunol
. 2016 Mar;
36(3):195-203.
PMID: 26931784
Purpose: Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of...
6.
Hoekstra A, de Graaff M, Briaire-de Bruijn I, Ras C, Seifar R, van Minderhout I, et al.
Oncotarget
. 2015 Oct;
6(36):38777-88.
PMID: 26472283
Succinate dehydrogenase (SDH) and fumarate hydratase (FH) are tricarboxylic acid (TCA) cycle enzymes and tumor suppressors. Loss-of-function mutations give rise to hereditary paragangliomas/pheochromocytomas and hereditary leiomyomatosis and renal cell carcinoma....
7.
van der Tuin K, Hannema S, Houdijk E, Losekoot M, de Koning E, Breuning M
Ned Tijdschr Geneeskd
. 2015 Sep;
159:A9247.
PMID: 26374728
Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes mellitus, estimated to account for approximately 1-4% of patients with diabetes. The predicted prevalence is, therefore,...
8.
Cnossen W, Te Morsche R, Hoischen A, Gilissen C, Venselaar H, Mehdi S, et al.
Eur J Hum Genet
. 2015 Apr;
24(2):237-42.
PMID: 25920554
Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands do not harbor a mutation...
9.
10.
Wit J, van Duyvenvoorde H, van Klinken J, Caliebe J, Bosch C, Lui J, et al.
Horm Res Paediatr
. 2014 Oct;
82(5):310-8.
PMID: 25300501
Background/aims: In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature. Methods: Genome-wide analysis for copy number variants (CNVs),...