Zobrazeno 1 - 10 of 17 pro vyhledávání: '"J T, den Dunnen"'
1
Akademický článek
Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life.
Autor: A Faddeeva, R A Studer, K Kraaijeveld, D Sie, B Ylstra, J Mariën, H J M op den Camp, E Datema, J T den Dunnen, N M van Straalen, D Roelofs
Publikováno v: PLoS ONE, Vol 10, Iss 6, p e0130600 (2015)
BackgroundCollembola (springtails) represent a soil-living lineage of hexapods in between insects and crustaceans. Consequently, their genomes may hold key information on the early processes leading to evolution of Hexapoda from a crustacean ancestor
Externí odkaz: https://doaj.org/article/2cca06391b24404ba0549de795636f42
Zobrazit plný text záznamu
2
Next generation sequencing technology: Advances and applications
Autor: H P J, Buermans, J T, den Dunnen
Publikováno v: Biochimica et biophysica acta. 1842(10)
Impressive progress has been made in the field of Next Generation Sequencing (NGS). Through advancements in the fields of molecular biology and technical engineering, parallelization of the sequencing reaction has profoundly increased the total numbe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::277582a9a6fb554cbb904e25b3671b11
https://pubmed.ncbi.nlm.nih.gov/24995601
Zobrazit plný text záznamu
3
Copy number variation in the genome; the human DMD gene as an example
Autor: S J, White, J T, den Dunnen
Publikováno v: Cytogenetic and genome research. 115(3-4)
Recent developments have yielded new technologies that have greatly simplified the detection of deletions and duplications, i.e., copy number variants (CNVs). These technologies can be used to screen for CNVs in and around specific genomic regions, a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d3f2dfea7f90cd1edb539db2d9bed308
https://pubmed.ncbi.nlm.nih.gov/17124406
Zobrazit plný text záznamu
5
The protein truncation test: A review
Autor: J T, Den Dunnen, G J, Van Ommen
Publikováno v: Human mutation. 14(2)
Only changes in the DNA sequence manifesting deleterious effects at a functional level provide "disease-causing" mutations. Consequently, mutation-scanning techniques applied on a protein level would be most informative. However, because of a lack of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2111b98b229de55158852d71d401dd31
https://pubmed.ncbi.nlm.nih.gov/10425032
Zobrazit plný text záznamu
7
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma
Autor: I, Stec, T J, Wright, G J, van Ommen, P A, de Boer, A, van Haeringen, A F, Moorman, M R, Altherr, J T, den Dunnen
Publikováno v: Human molecular genetics. 7(7)
Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). The smallest region of overlap between WHS patients, the WHS critical region, has been confined to 165 k
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b8a579da881a2f6abbfbd36cbbe78fa
https://pubmed.ncbi.nlm.nih.gov/9618163
Zobrazit plný text záznamu
8
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region
Autor: N A, Datson, E, Semina, A A, van Staalduinen, H G, Dauwerse, E J, Meershoek, J J, Heus, R R, Frants, J T, den Dunnen, J C, Murray, G J, van Ommen
Publikováno v: American journal of human genetics. 59(6)
Rieger syndrome (RGS) is an autosomal dominant disorder of morphogenesis affecting mainly the formation of the anterior eye chamber and of the teeth. RGS has been localized to human chromosome 4q25 by linkage to epidermal growth factor (EGF). We have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::71abf7b1e64cba76fbe415563fd2df06
https://pubmed.ncbi.nlm.nih.gov/8940275
Zobrazit plný text záznamu
9
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
Autor: G, van der Steege, P M, Grootscholten, J M, Cobben, S, Zappata, H, Scheffer, J T, den Dunnen, G J, van Ommen, C, Brahe, C H, Buys
Publikováno v: American journal of human genetics. 59(4)
The survival motor neuron (SMN) gene has been described as a determining gene for spinal muscular atrophy (SMA). SMN has a closely flanking, nearly identical copy (cBCD541). Gene and copy gene can be discriminated by sequence differences in exons 7 a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52b8552d5cc62220c549181af2eb3f48
https://pubmed.ncbi.nlm.nih.gov/8808598
Zobrazit plný text záznamu
10
Detection of truncated dystrophin in fetal DMD myotubes
Autor: I B, Ginjaar, E, Bakker, J T, den Dunnen, A, Wessels, M M, van Paassen, M D, Kloosterman, E E, Zubrzycka-Gaarn, K H, Fischbeck, A F, Moorman, G J, van Ommen
Publikováno v: Advances in experimental medicine and biology. 280
An immunohistochemical study was carried out on a twelve-week old fetus, aborted for high risk of Duchenne muscular dystrophy. Southern and FIGE analysis showed an intragenic duplication in the DMD gene, which had previously resulted in a severe Duch
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d008242bab7e9bd3ecce30e695a615f4
https://pubmed.ncbi.nlm.nih.gov/2248137
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje