Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

Ishiwa Sho; Sato Mai; Morisada Naoya; Nishi Kentaro; Kanamori Toru; Okutsu Mika; Ogura Masao; Sako Mayumi; Kosuga Motomichi; Kamei Koichi; Ito Shuichi; Nozu Kandai; Iijima Kazumoto; Ishikura Kenji

首页> 外文期刊>Pediatric nephrology: journal of the International Pediatric Nephrology Association >Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

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Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

机译：肾脏和泌尿道（Cakut）和基因突变先天性异常的临床介绍之间的关联：对单一机构66例患者的分析

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Background The association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations has yet to be fully explored.

机译：背景技术肾脏和泌尿道先天性异常（CAKUT）和基因突变的临床介绍之间的关联尚未得到充分探索。

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来源
《Pediatric nephrology: journal of the International Pediatric Nephrology Association》 |2019年第8期|共8页
作者
Ishiwa Sho; Sato Mai; Morisada Naoya; Nishi Kentaro; Kanamori Toru; Okutsu Mika; Ogura Masao; Sako Mayumi; Kosuga Motomichi; Kamei Koichi; Ito Shuichi; Nozu Kandai; Iijima Kazumoto; Ishikura Kenji;
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作者单位

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Kobe Univ Dept Pediat Grad Sch Med Kobe Hyogo Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Natl Ctr Child Hlth &

Dev Div Med Genet Tokyo Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

Yokohama City Univ Grad Sch Med Dept Pediat Yokohama Kanagawa Japan;

Kobe Univ Dept Pediat Grad Sch Med Kobe Hyogo Japan;

Kobe Univ Dept Pediat Grad Sch Med Kobe Hyogo Japan;

Natl Ctr Child Hlth &

Dev Div Nephrol &

Rheumatol Setagaya Ku 2-10-1 Okura Tokyo 1578535 Japan;

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原文格式 PDF
正文语种 eng
中图分类儿科学;
关键词
CAKUT(congenital anomalies of the kidney and urinary tract); Children; CKD(chronic kidney disease; ESKD(end stage kidney disease; Gene mutation;

机译：Cakut（肾脏和泌尿道的先天性异常）;儿童;CKD（慢性肾病;ESKD（末期肾病;基因突变;

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专利

1. Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution [J] . Ishiwa Sho, Sato Mai, Morisada Naoya, Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2019,第8期

机译：肾脏和泌尿道（Cakut）和基因突变先天性异常的临床介绍之间的关联：对单一机构66例患者的分析
2. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) [J] . Kosfeld Anne, Kreuzer Martin, Daniel Christoph, Human Genetics . 2016,第1期

机译：全外显子组测序可确定先天性肾脏和泌尿系统异常（CAKUT）患者中编码Rab-GTPase激活蛋白的TBC1D1突变
3. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans [J] . VivanteA., KohlS., HwangD.-Y., Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2014,第4期

机译：人类先天性肾脏和泌尿道异常（CAKUT）的单基因原因
4. Computer-Aided Diagnosis of Congenital Abnormalities of the Kidney and Urinary Tract in Children Using a Multi-Instance Deep Learning Method Based on Ultrasound Imaging Data [C] . Shi Yin, Qinmu Peng, Hongming Li, IEEE International Symposium on Biomedical Imaging . 2020

机译：基于超声成像数据的多实例深度学习方法对儿童先天性肾脏和尿路异常的计算机辅助诊断
5. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings. [D] . Cox, Melissa Luanne. 2003

机译：鉴定引起家犬X连锁Alport综合征的COL4A5突变，并分析患病和未患病兄弟姐妹肾脏中的基因表达。
6. Single-Gene Causes of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Humans [O] . Asaf Vivante, Stefan Kohl, Daw-Yang Hwang, -1

机译：人类肾脏和泌尿道（CAKUT）先天性异常的单基因原因
7. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans [O] . Asaf Vivante, Stefan Kohl, Daw-Yang Hwang, 2014

机译：人类肾脏和泌尿道先天性异常的单一基因原因（CAKUT）

Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

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