Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing-Reference-Cited by-同舟云学术

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing

Published:2017-03-02 Issue:4 Volume:5 Page:449-453
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Garcia-Tizon Larroca Santiago¹^ORCID,Blagoeva Atanasova Vangeliya¹,Orera Clemente Maria¹,Aluja Mendez Anna¹,Ortega Abad Virginia¹,Perez Fernandez-Pacheco Ricardo¹,De León Luis Juan¹,Gamez Alderete Francisco¹

Affiliation:

1. Fetal medicine unit; Department of Obstetrics and Gynaecology; Hospital General Universitario Gregorio Marañon; Madrid Spain

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.859/fullpdf

Reference13 articles.

1. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review;Slavotinek;Am. J. Med. Genet.,2000

2. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome;Ansley;Nature,2003

3. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2;Badano;Am. J. Hum. Genet.,2003

4. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3);Chiang;Am. J. Hum. Genet.,2004

5. The ciliopathies: a transitional model into systems biology of human genetic disease;Davis;Curr. Opin. Genet. Dev.,2012

Cited by 6 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. Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation;Medicine;2022-08-12

2. Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generation sequencing;Clinica Chimica Acta;2022-03

3. Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility;Journal of Men’s Health;2021

4. Prenatal diagnosis of Bardet-Biedl syndrome: a multidisciplinary approach;BMJ Case Reports;2021-01

5. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes;Clinical Genetics;2019-02-18