Literature DB >> 9217231

Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome.

Y Yokoyama, K Narahara, M Teraoka, K Koyama, Y Seino, S Yagi, T Konishi, T Miyawaki.   

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Year:  1997        PMID： 9217231     DOI： 10.1002/(sici)1096-8628(19970808)71:2<236::aid-ajmg24>3.0.co;2-e

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  2 in total

1.  De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.

Authors:  Miriam Partida-Pérez; María G Domínguez; Vivian Alejandra Neira; Luis E Figuera; Horacio Rivera
Journal:  J Genet       Date:  2012-08       Impact factor: 1.166

2.  Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Authors:  Shen Gu; Bo Yuan; Ian M Campbell; Christine R Beck; Claudia M B Carvalho; Sandesh C S Nagamani; Ayelet Erez; Ankita Patel; Carlos A Bacino; Chad A Shaw; Paweł Stankiewicz; Sau Wai Cheung; Weimin Bi; James R Lupski
Journal:  Hum Mol Genet       Date:  2015-04-23       Impact factor: 6.150
  2 in total

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