Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations

Published:2018-06-29 Issue:10 Volume:33 Page:1723-1729
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Hureaux Marguerite,Molin Arnaud,Jay Nadine,Saliou Anne Hélène,Spaggiari Emmanuel,Salomon Rémi,Benachi Alexandra,Vargas-Poussou Rosa,Heidet Laurence

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/article/10.1007/s00467-018-3998-z/fulltext.html

Reference23 articles.

1. Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF (2006) Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol 28:911–917

2. Yinon Y, Farine D, Yudin MH (2010) Cytomegalovirus infection in pregnancy. J Obstet Gynaecol Can 32:348–354

3. Tsatsaris V, Gagnadoux MF, Aubry MC, Gubler MC, Dumez Y, Dommergues M (2002) Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome? BJOG 109:1388–1393

4. Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D (2018) Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney Int 93:961–967

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report;Clinical Case Reports;2024-07

2. Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2;Pediatric Nephrology;2024-05-16

3. Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies;Prenatal Diagnosis;2024-01-27

4. Reversed cortico-medullary differentiation in the fetal and neonatal kidneys: an indicator of poor prognosis?;Pediatric Radiology;2023-12-27

5. Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review;Best Practice & Research Clinical Endocrinology & Metabolism;2023-11

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3