Literature DB >> 19159393

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.

Y-W Lee, S C Kim, Y L Shin, J-W Kim, H S Hong, Y K Lee, C-S Ki.   

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Year:  2009        PMID： 19159393     DOI： 10.1111/j.1399-0004.2008.01127.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

Review 1.  Chromodomain proteins in development: lessons from CHARGE syndrome.

Authors:  W S Layman; E A Hurd; D M Martin
Journal:  Clin Genet       Date:  2010-04-08       Impact factor: 4.438

Review 2.  Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Authors:  Gabriel E Zentner; Wanda S Layman; Donna M Martin; Peter C Scacheri
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

3.  Mutations in the CHD7 gene: the experience of a commercial laboratory.

Authors:  Cynthia F Bartels; Cheryl Scacheri; Lashonda White; Peter C Scacheri; Sherri Bale
Journal:  Genet Test Mol Biomarkers       Date:  2010-12

4.  Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

Authors:  Young Bae Sohn; Jung Min Ko; Choong Ho Shin; Sei Won Yang; Jong-Hee Chae; Kyung-A Lee
Journal:  J Hum Genet       Date:  2015-11-05       Impact factor: 3.172

5.  CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

Authors:  Mee Hyun Song; Hyun-Ju Cho; Hee Keun Lee; Tae Jun Kwon; Won-Sang Lee; Sanghee Oh; Jinwoong Bok; Jae Young Choi; Un-Kyung Kim
Journal:  PLoS One       Date:  2011-09-13       Impact factor: 3.240

6.  Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.

Authors:  Seung Jun Lee; Jong Hee Chae; Jung Ae Lee; Sung Im Cho; Soo Hyun Seo; Hyunwoong Park; Moon-Woo Seong; Sung Sup Park
Journal:  Ann Lab Med       Date:  2014-12-08       Impact factor: 3.464

7.  Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.

Authors:  Yeonkyung Kim; Ho-Seok Lee; Jung-Seok Yu; Kangmo Ahn; Chang-Seok Ki; Jihyun Kim
Journal:  Korean J Pediatr       Date:  2014-01-31
  7 in total

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