Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation

被引：0
|
作者：
Xi-Hui Zhou
Zhi-Yan Hui
Yuan Li
机构：
[1] Medical School of Xi an Jiaotong University/Ion Channel Disease Laboratory,Department of Neonatology, the First Affiliated Hospital
[2] Key Laboratory of Environment and Genes Related to Diseases,Department of Neonatology, First Affiliated Hospital
[3] Ministry of Education,undefined
[4] Medical College of Xi’an Jiaotong University,undefined
来源：
World Journal of Pediatrics | 2013年 / 9卷
关键词：
infants; pyelonephritis; vesicoureteral reflux;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：76 / 79
页数：3
相关论文
共 50 条
  • [1] Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation
    Zhou, Xi-Hui
    Hui, Zhi-Yan
    Li, Yuan
    WORLD JOURNAL OF PEDIATRICS, 2013, 9 (01) : 76 - 79
  • [2] PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann, C
    Senderek, J
    Küpper, F
    Schneider, F
    Dornia, C
    Windelen, E
    Eggermann, T
    Rudnik-Schöneborn, S
    Kirfel, J
    Furu, L
    Onuchic, LE
    Rossetti, S
    Harris, PC
    Somlo, S
    Guay-Woodford, L
    Germino, GG
    Moser, M
    Büttner, R
    Zerres, K
    HUMAN MUTATION, 2004, 23 (05) : 453 - 463
  • [3] Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
    Bergmann, C
    Küpper, F
    Domia, C
    Schneider, F
    Senderek, J
    Zerres, K
    HUMAN MUTATION, 2005, 25 (03) : 225 - 231
  • [4] Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
    Bergmann, Carsten
    Frank, Valeska
    Kuepper, Fabian
    Schmidt, Christa
    Senderek, Jan
    Zerres, Klaus
    JOURNAL OF HUMAN GENETICS, 2006, 51 (09) : 788 - 793
  • [5] Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
    Carsten Bergmann
    Valeska Frank
    Fabian Küpper
    Christa Schmidt
    Jan Senderek
    Klaus Zerres
    Journal of Human Genetics, 2006, 51 : 788 - 793
  • [6] A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
    Rossetti, S
    Torra, R
    Coto, E
    Consugar, M
    Kubly, V
    Málaga, S
    Navarro, M
    El-Youssef, M
    Torres, VE
    Harris, PC
    KIDNEY INTERNATIONAL, 2003, 64 (02) : 391 - 403
  • [7] BIOINFORMATIC TOOLS TO DETERMINE THE PATHOGENICITY OF A MISSENSE MUTATION IN PKHD1 IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
    Alehabib, Elham
    Jamshidi, Javad
    Ghaedi, Hamid
    Askarian, Fahimeh
    Mahmoudieh, Leila
    Johari, Amir Hossein
    Darvish, Hossein
    NEPHROLOGY, 2017, 22 (04) : 330 - 331
  • [8] A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
    Richter, Felix
    Rutherford, Kayleigh D.
    Cooke, Anisha J.
    Meshkati, Malorie
    Eddy-Abrams, Vanessa
    Greene, Daniel
    Kosowsky, Jordana
    Park, Yeaji
    Aggarwal, Surabhi
    Burke, Rebecca J.
    Chang, Weili
    Connors, Jillian
    Giannone, Peter J.
    Hays, Thomas
    Khattar, Divya
    Polak, Mark
    Senaldi, Liana
    Smith-Raska, Matthew
    Sridhar, Shanthy
    Steiner, Laurie
    Swanson, Jonathan R.
    Tauber, Kate A.
    Barbosa, Mafalda
    Guttmann, Katherine F.
    Turro, Ernest
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2024, 83 (06) : 829 - 833
  • [9] Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
    Jung, Jiwon
    Seo, Go Hun
    Kim, Yoo-Mi
    Han, Young Mi
    Park, Ji Kwon
    Kim, Gu-Hwan
    Lee, Joo Hoon
    Park, Young Seo
    Lee, Byong Sop
    Kim, Ellen Ai-Rhan
    Lee, Pil-Ryang
    Lee, Beom Hee
    MEDICINE, 2020, 99 (19) : E20113
  • [10] Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    Bergmann, C
    Senderek, J
    Sedlacek, B
    Pegiazoglou, I
    Puglia, P
    Eggermann, T
    Rudnik-Schöneborn, S
    Furu, L
    Onuchic, LF
    De Baca, M
    Germino, GG
    Guay-Woodford, L
    Somlo, S
    Moser, M
    Büttner, R
    Zerres, K
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (01): : 76 - 89
12345