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Links from Nucleotide

Items: 4

1.
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
BMC Med Genet. 2019; 20: 127. Published online 2019 Jul 17. doi: 10.1186/s12881-019-0859-y
PMCID:
PMC6637606
AbstractArticlePDF–775K
2.
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants
Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou
BMC Med Genet. 2019; 20: 93. Published online 2019 May 30. doi: 10.1186/s12881-019-0813-z
PMCID:
PMC6543684
AbstractArticlePDF–863K
3.
Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase
Christian Colin, Flávia S Tobaruella, Ricardo G Correa, Mari C Sogayar, Marcos A Demasi
BMC Res Notes. 2010; 3: 252. Published online 2010 Oct 6. doi: 10.1186/1756-0500-3-252
PMCID:
PMC2966464
AbstractArticlePDF–524K
4.
Differentiation potential of Pluripotent Stem Cells correlates to the level of CHD7
Takako Yamamoto, Chiemi Takenaka, Yusuke Yoda, Yasuhiro Oshima, Kenichi Kagawa, Hiroshi Miyajima, Tetsuji Sasaki, Shin Kawamata
Sci Rep. 2018; 8: 241. Published online 2018 Jan 10. doi: 10.1038/s41598-017-18439-y
PMCID:
PMC5762636
AbstractArticlePDF–2.2M

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