Literature DB >> 22523277

Nephronophthisis cannot be detected by urinary screening program.

Daishi Hirano1, Shuichiro Fujinaga, Yoshiyuki Ohtomo, Naoto Nishizaki, Satoshi Hara, Hitohiko Murakami, Yutaka Yamaguchi, Motoshi Hattori, Hiroyuki Ida.   

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Year:  2012        PMID： 22523277     DOI： 10.1177/0009922812441390

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN： 0009-9228            Impact factor:   1.168


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  2 in total

1.  Clinical and genetic characteristics of Japanese nephronophthisis patients.

Authors:  Keisuke Sugimoto; Tomoki Miyazawa; Takuji Enya; Hitomi Nishi; Kohei Miyazaki; Mitsuru Okada; Tsukasa Takemura
Journal:  Clin Exp Nephrol       Date:  2015-10-23       Impact factor: 2.801

2.  Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Authors:  Hee Gyung Kang; Hyun Kyung Lee; Yo Han Ahn; Je-Gun Joung; Jaeyong Nam; Nayoung K D Kim; Jung Min Ko; Min Hyun Cho; Jae Il Shin; Joon Kim; Hye Won Park; Young Seo Park; Il-Soo Ha; Woo Yeong Chung; Dae-Yeol Lee; Su Young Kim; Woong Yang Park; Hae Il Cheong
Journal:  Exp Mol Med       Date:  2016-08-05       Impact factor: 8.718
  2 in total

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