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Molecular cytogenetic analysis using FISH and HD-oligo micro array identified an unusual novel Down syndrome caseMolecular cytogenetic analysis using FISH and HD-oligo micro array identified an unusual novel Down syndrome case

Autor: Jaiswal, Sushil Kumar, Rai, Amit Kumar

Background:Down syndrome, caused due to trisomy of chromosome 21. Methods:131 suspected cases of DS from university hospital after obtaining written informed consent clinical history and photographs were also recorded. Diagnosis carried out by tackin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cef4ef305ef0692037e07f32754ed52

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Evolution of the human chromosome 13 synteny: Evolutionary rearrangements, plasticity, human disease genes and cancer breakpoints

Autor: Polina L. Perelman, Vanessa Milioto, Natalia A. Serdyukova, Rita Scardino, Anastasia A. Proskuryakova, Francesca Dumas

Publikováno v: Genes
Volume 11
Issue 4
Genes, Vol 11, Iss 383, p 383 (2020)

The history of each human chromosome can be studied through comparative cytogenetic approaches in mammals which permit the identification of human chromosomal homologies and rearrangements between species. Comparative banding, chromosome painting, Ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c5b10e2ce1d2d7fce748b706615c19
http://hdl.handle.net/10447/410931

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Detection of CCND1 gene copy number variations using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization methods

Autor: Ooi, Akishi, Oyama, Takeru

Publikováno v: Methods in Molecular Biology. 1726:101-109

金沢大学医薬保健研究域医学系
The CCND1 locus is located in 11q13 and encodes the G1–S regulatory protein, cyclin D1. Cyclin D1 is frequently amplified in various types of cancers, and is an attractive potential therapeutic target

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::78b0b30d1fa42c2dcdd2d36b6077f195
http://hdl.handle.net/2297/00050498

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