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
11.
Weinreich S, Bosma A, Henneman L, Rigter T, Spruijt C, Grimbergen A, et al.
Eur J Hum Genet
. 2014 Apr;
23(1):29-33.
PMID: 24736738
Genetic testing for maturity-onset diabetes of the young (MODY) may be relevant for treatment and prognosis in patients with usually early-onset, non-ketotic, insulin-sensitive diabetes and for monitoring strategies in non-diabetic...
12.
Madan K, Breuning M
Genet Med
. 2013 Nov;
16(6):425-32.
PMID: 24177057
The fact that techniques of prenatal diagnosis are used in India and China to selectively eliminate females is widely known. It has been extensively reported in the international media and...
13.
van Duyvenvoorde H, Lui J, Kant S, Oostdijk W, Gijsbers A, Hoffer M, et al.
Eur J Hum Genet
. 2013 Sep;
22(5):602-9.
PMID: 24065112
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only...
14.
Santen G, Aten E, Vulto-van Silfhout A, Pottinger C, van Bon B, van Minderhout I, et al.
Hum Mutat
. 2013 Aug;
34(11):1519-28.
PMID: 23929686
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a...
15.
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte C, van Haeringen A, et al.
Am J Med Genet A
. 2013 Mar;
161A(5):973-6.
PMID: 23494849
Chudley-McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as a cause of CMS by Doherty et al. In...
16.
Happe H, van der Wal A, Salvatori D, Leonhard W, Breuning M, de Heer E, et al.
Kidney Int
. 2013 Mar;
83(6):1099-108.
PMID: 23466997
Autosomal-dominant polycystic kidney disease is characterized by progressive cyst formation and fibrosis in the kidneys. Here we describe an orthologous Pkd1(nl,nl) mouse model, with reduced expression of the normal Pkd1...
17.
Sun Y, Almomani R, Breedveld G, Santen G, Aten E, Lefeber D, et al.
Hum Mutat
. 2013 Feb;
34(5):706-13.
PMID: 23418007
Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar ataxia type 7 (SCAR7) was previously linked to chromosome band 11p15. We have identified TPP1 as...
18.
Aten E, Sun Y, Almomani R, Santen G, Messemaker T, Maas S, et al.
Hum Mutat
. 2012 Nov;
34(3):430-4.
PMID: 23169394
Aarskog-Scott syndrome (ASS) is a rare disorder with characteristic facial, skeletal, and genital abnormalities. Mutations in the FGD1 gene (Xp11.21) are responsible for ASS. However, mutation detection rates are low....
19.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg A, Oostdijk W, Voshol P, et al.
Nat Genet
. 2012 Nov;
44(12):1375-81.
PMID: 23143598
Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in...
20.
Nielsen M, Vermont C, Aten E, Ruivenkamp C, van Herrewegen F, Santen G, et al.
J Med Genet
. 2012 Sep;
49(9):598-600.
PMID: 22972950
Background: Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in...