Literature DB >> 25296582

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.

Keiko Wakui1.   

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Year:  2014        PMID： 25296582     DOI： 10.1038/jhg.2014.83

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  9 in total

Review 1.  Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

Authors:  Hiroki Kurahashi; Hasbaira Bolor; Takema Kato; Hiroshi Kogo; Makiko Tsutsumi; Hidehito Inagaki; Tamae Ohye
Journal:  J Hum Genet       Date:  2009-04-17       Impact factor: 3.172

Review 2.  Mechanisms for recurrent and complex human genomic rearrangements.

Authors:  Pengfei Liu; Claudia M B Carvalho; P J Hastings; James R Lupski
Journal:  Curr Opin Genet Dev       Date:  2012-03-20       Impact factor: 5.578

Review 3.  Phenotypic impact of genomic structural variation: insights from and for human disease.

Authors:  Joachim Weischenfeldt; Orsolya Symmons; François Spitz; Jan O Korbel
Journal:  Nat Rev Genet       Date:  2013-02       Impact factor: 53.242

4.  Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Authors:  Zehra Ordulu; Kristen E Wong; Benjamin B Currall; Andrew R Ivanov; Shahrin Pereira; Sara Althari; James F Gusella; Michael E Talkowski; Cynthia C Morton
Journal:  Am J Hum Genet       Date:  2014-04-17       Impact factor: 11.025

5.  Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.

Authors:  Keiko Wakui; Atsushi Toyoda; Takeo Kubota; Eiko Hidaka; Masayo Ishikawa; Tsutomu Katsuyama; Yoshiyuki Sakaki; Masahira Hattori; Yoshimitsu Fukushima
Journal:  J Hum Genet       Date:  2002       Impact factor: 3.172

6.  Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Authors:  Akira Nishimura-Tadaki; Takahito Wada; Gul Bano; Karen Gough; Janet Warner; Tomoki Kosho; Noriko Ando; Haruka Hamanoue; Hideya Sakakibara; Gen Nishimura; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Keiko Wakui; Hirotomo Saitsu; Yoshimitsu Fukushima; Fumiki Hirahara; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2010-12-09       Impact factor: 3.172

Review 7.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

8.  Signature of backward replication slippage at the copy number variation junction.

Authors:  Tamae Ohye; Hidehito Inagaki; Mamoru Ozaki; Toshiro Ikeda; Hiroki Kurahashi
Journal:  J Hum Genet       Date:  2014-03-20       Impact factor: 3.172

Review 9.  Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.

Authors:  S Le Scouarnec; S M Gribble
Journal:  Heredity (Edinb)       Date:  2011-11-16       Impact factor: 3.821
  9 in total

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