Literature DB >> 19659764

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.

L Bernardini1, L Sinibaldi, A Capalbo, I Bottillo, B Mancuso, B Torres, A Novelli, M C Digilio, B Dallapiccola.   

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Year:  2009        PMID： 19659764     DOI： 10.1111/j.1399-0004.2009.01170.x

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


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  6 in total

1.  Novel dominant-negative mutant of GATA3 in HDR syndrome.

Authors:  Masaaki Ohta; Minenori Eguchi-Ishimae; Mayumi Ohshima; Hidehiko Iwabuki; Koji Takemoto; Kikuko Murao; Toshiyuki Chisaka; Eiichi Yamamoto; Takashi Higaki; Keiichi Isoyama; Mariko Eguchi; Eiichi Ishii
Journal:  J Mol Med (Berl)       Date:  2010-12-01       Impact factor: 4.599

2.  Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.

Authors:  Saeam Shin; Nae Yu; Jong Rak Choi; Seri Jeong; Kyung A Lee
Journal:  Ann Lab Med       Date:  2015-09       Impact factor: 3.464

3.  The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

Authors:  Chong Kun Cheon; Gu Hwan Kim; Han Wook Yoo
Journal:  Yonsei Med J       Date:  2015-01       Impact factor: 2.759

4.  Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region.

Authors:  Saet Byeol Kim; Young-Eun Kim; Ji Mi Jung; Hye Young Jin; Yun-Jung Lim; Mi Lim Chung
Journal:  Clin Case Rep       Date:  2017-07-11

5.  TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes.

Authors:  Aitor González; Marie Artufel; Pascal Rihet
Journal:  Nucleic Acids Res       Date:  2019-08-22       Impact factor: 16.971

6.  HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Authors:  Aram Yang; Jinsup Kim; Chang-Seok Ki; Sung Hwa Hong; Sung Yoon Cho; Dong-Kyu Jin
Journal:  BMC Med Genet       Date:  2017-10-26       Impact factor: 2.103
  6 in total

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