Ron Hochstenbach
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Explore the profile of Ron Hochstenbach including associated specialties, affiliations and a list of published articles.
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1863
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Recent Articles
11.
Middelkamp S, van Heesch S, Braat A, de Ligt J, van Iterson M, Simonis M, et al.
Genome Med
. 2017 Jan;
9(1):9.
PMID: 28126037
Background: Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of...
12.
Hochstenbach R, Slunga-Tallberg A, Devlin C, Floridia G, de Alba M, Bhola S, et al.
Eur J Hum Genet
. 2016 Dec;
25(3):273-274.
PMID: 28000702
No abstract available.
13.
Redin C, Brand H, Collins R, Kammin T, Mitchell E, Hodge J, et al.
Nat Genet
. 2016 Nov;
49(1):36-45.
PMID: 27841880
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects...
14.
Giltay J, Klijn A, de Jong T, Kats P, van Breugel M, Lens S, et al.
Mol Syndromol
. 2016 Sep;
7(3):153-9.
PMID: 27587991
Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with...
15.
van der Crabben S, Hennus M, McGregor G, Ritter D, Nagamani S, Wells O, et al.
J Clin Invest
. 2016 Jul;
126(8):2881-92.
PMID: 27427983
The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage...
16.
Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kazmierczak A, Obersztyn E, et al.
Mol Syndromol
. 2016 Mar;
6(5):210-21.
PMID: 26997941
We present 2 cases with multiple de novo supernumerary marker chromosomes (sSMCs), each derived from a different chromosome. In a prenatal case, we found mosaicism for an sSMC(4), sSMC(6), sSMC(9),...
17.
Lo-A-Njoe S, van der Veken L, Vermont C, Rafael-Croes L, Keizer V, Hochstenbach R, et al.
Case Rep Genet
. 2016 Mar;
2016:2861653.
PMID: 26942023
Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3...
18.
Hochstenbach R, Nikkels P, Elferink M, Oudijk M, van Oppen C, van Zon P, et al.
Clin Case Rep
. 2015 Jul;
3(6):489-91.
PMID: 26185654
Noninvasive prenatal testing (NIPT) and direct karyotyping of cytotrophoblast were normal for a male fetus, but cultured chorionic villus mesenchymal cells and umbilical cord fibroblasts showed nonmosaic trisomy 18. This...
19.
de Pagter M, van Roosmalen M, Baas A, Renkens I, Duran K, van Binsbergen E, et al.
Am J Hum Genet
. 2015 Mar;
96(4):651-6.
PMID: 25799107
Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects...
20.
Kloosterman W, Hochstenbach R
Mol Cytogenet
. 2015 Jan;
7(1):100.
PMID: 25606056
Chromosomal aberrations include translocations, deletions, duplications, inversions, aneuploidies and complex rearrangements. They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic...