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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112
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3634
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Recent Articles
21.
Helderman-van den Enden A, Madan K, Breuning M, van der Hout A, Bakker E, de Die-Smulders C, et al.
Eur J Hum Genet
. 2012 Jun;
21(1):21-6.
PMID: 22669413
Prenatal diagnosis for Duchenne muscular dystrophy (DMD) was introduced in the Netherlands in 1984. We have investigated the impact of 26 years (1984-2009) of prenatal testing. Of the 635 prenatal...
22.
Yiu K, Atsma D, Delgado V, Ng A, Witkowski T, Ewe S, et al.
PLoS One
. 2012 May;
7(5):e36115.
PMID: 22574137
Background: To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. Methods And Findings: Sixteen HCM...
23.
Boertien W, Meijer E, Zittema D, van Dijk M, Rabelink T, Breuning M, et al.
Nephrol Dial Transplant
. 2012 Apr;
27(11):4131-7.
PMID: 22523115
Background: Experimental studies have suggested that vasopressin plays a detrimental role in autosomal dominant polycystic kidney disease (ADPKD). It is, however, unknown whether endogenous vasopressin concentration is associated with kidney...
24.
Santen G, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, et al.
Nat Genet
. 2012 Mar;
44(4):379-80.
PMID: 22426309
We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed...
25.
Albers C, Paul D, Schulze H, Freson K, Stephens J, Smethurst P, et al.
Nat Genet
. 2012 Feb;
44(4):435-9, S1-2.
PMID: 22366785
The exon-junction complex (EJC) performs essential RNA processing tasks. Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR), caused by deficiency in one of the four EJC...
26.
Novalic Z, van der Wal A, Leonhard W, Koehl G, Breuning M, Geissler E, et al.
J Am Soc Nephrol
. 2012 Feb;
23(5):842-53.
PMID: 22343118
Inhibition of the mammalian target of rapamycin (mTOR) shows beneficial effects in animal models of polycystic kidney disease (PKD); however, two clinical trials in patients with autosomal dominant PKD failed...
27.
Out A, Wasielewski M, Huijts P, van Minderhout I, Houwing-Duistermaat J, Tops C, et al.
Breast Cancer Res Treat
. 2012 Feb;
134(1):219-27.
PMID: 22297469
The MUTYH gene is involved in base excision repair. MUTYH mutations predispose to recessively inherited colorectal polyposis and cancer. Here, we evaluate an association with breast cancer (BC), following up...
28.
29.
Laue K, Pogoda H, Daniel P, van Haeringen A, Alanay Y, von Ameln S, et al.
Am J Hum Genet
. 2011 Oct;
89(5):595-606.
PMID: 22019272
Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a...
30.
Gijsbers A, Dauwerse J, Bosch C, Boon E, van den Ende W, Kant S, et al.
Eur J Med Genet
. 2011 Jun;
54(4):e409-12.
PMID: 21664500
Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single...