Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis
Authors
Keywords
-
Journal
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Volume -, Issue -, Pages ASN.2020040478
Publisher
American Society of Nephrology (ASN)
Online
2020-10-06
DOI
10.1681/asn.2020040478
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
- (2017) Patrick D. Brophy et al. GENETICS
- Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract
- (2017) Amelie T. van der Ven et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
- (2017) Patrick D. Brophy et al. GENETICS
- Canvas: versatile and scalable detection of copy number variants
- (2016) Eric Roller et al. BIOINFORMATICS
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update
- (2016) Johan T. den Dunnen et al. HUMAN MUTATION
- A comprehensive global genotype-phenotype database for rare diseases
- (2016) Daniel Trujillano et al. Molecular Genetics & Genomic Medicine
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
- (2015) Berta Luzón-Toro et al. BMC Medical Genetics
- Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
- (2014) Camille Humbert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
- (2013) Come Raczy et al. BIOINFORMATICS
- Stage specific requirement of Gfrα1 in the ureteric epithelium during kidney development
- (2013) T. Keefe Davis et al. MECHANISMS OF DEVELOPMENT
- FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man
- (2012) Hila Barak et al. DEVELOPMENTAL CELL
- Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations
- (2012) Rajshekhar Chatterjee et al. HUMAN GENETICS
- RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects
- (2011) C. Jeanpierre et al. JOURNAL OF MEDICAL GENETICS
- Congenital ureteropelvic junction obstruction: human disease and animal models
- (2010) Julie Klein et al. INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
- The many faces of RET dysfunction in kidney
- (2010) Sanjay Jain Organogenesis
- Hirschsprung Disease and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
- (2009) Alessio Pini Prato et al. MEDICINE
- Renal Aplasia in Humans Is Associated with RET Mutations
- (2008) Michael A. Skinner et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started