POS-419 GENOTYPE-PHENOTYPE CORRELATIONS OF PREDICTED LOSS OF FUNCTION MUTATIONS IN ATYPICAL ADPKD GENES

POS-419 GENOTYPE-PHENOTYPE CORRELATIONS OF PREDICTED LOSS OF FUNCTION MUTATIONS IN ATYPICAL ADPKD GENES

Bibliographic Details
Main Authors:	A. Chang, B. Moore, G. Singh, T. Mirshahi
Format:	Article
Language:	English
Published:	Elsevier 2021-04-01
Series:	Kidney International Reports
Online Access:	http://www.sciencedirect.com/science/article/pii/S246802492100588X

Similar Items

POS-471 WHEN ADPKD AND LUPUS MEET
by: N. BEN MAHMOUD, et al.
Published: (2021-04-01)

Novel PKD1 mutations – the effect on clinical phenotype of ADPKD patients in Lower Silesia
by: Hanna Augustyniak-Bartosik, et al.
Published: (2013-03-01)

<it>PAX6 </it>mutations: genotype-phenotype correlations
by: Hanson Isabel M, et al.
Published: (2005-05-01)

Mutation Enrichment and Transcriptomic Activation Signatures of 419 Molecular Pathways in Cancer
by: Marianna A. Zolotovskaia, et al.
Published: (2020-01-01)

IDH Mutations: Genotype-Phenotype Correlation and Prognostic Impact
by: Xiao-Wei Wang, et al.
Published: (2014-01-01)

A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model
by: Phil McEwan, et al.
Published: (2018-02-01)

Intrafamilial Variability of ADPKD
by: Matthew B. Lanktree, et al.
Published: (2019-07-01)

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
by: Rafael Sivera, et al.
Published: (2017-07-01)

The '419 Scam': An Unacceptable 'Power of the False'?
by: John Scannell
Published: (2014-08-01)

Polycystins, ADPKD, and Cardiovascular Disease
by: Ivana Y. Kuo, et al.
Published: (2020-04-01)

Simultaneous laparoscopic nephrectomy in ADPKD
by: Baishya Ramen, et al.
Published: (2010-01-01)

Epilepsy and <i>BRAF</i> Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
by: Domenica I. Battaglia, et al.
Published: (2021-08-01)

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
by: Jing Zheng, et al.
Published: (2015-01-01)

Novel mutations in Serbian MEN1 patients: Genotype-phenotype correlation
by: Isailović Tatjana, et al.
Published: (2019-01-01)

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation
by: Agnė Čerkauskaitė, et al.
Published: (2019-05-01)

Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population
by: Praveen Kishore Sahu, et al.
Published: (2012-06-01)

THE CORRELATION BETWEEN LEVELS OF PHENOTYPIC RESISTANCE AND GENOTYPIC MUTATIONS OF M. TUBERCULOSIS
by: N. Ciobanu, et al.
Published: (2018-12-01)

Mutational spectrum of <it>APC </it>and genotype-phenotype correlations in Greek FAP patients
by: Fountzilas George, et al.
Published: (2010-07-01)

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China
by: Yingjie Sun, et al.
Published: (2020-06-01)

Intermediate Phenotypes of <em>ATP1A3</em> Mutations: Phenotype–Genotype Correlations
by: Pichet Termsarasab, et al.
Published: (2015-09-01)

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
by: Eggens, Veerle R.C, et al.
Published: (2014)

Renal Transcatheter Arterial Embolization for ADPKD
by: Yasuhiro Oda, et al.
Published: (2020-04-01)

Investigating the mechanism of cystogenesis in TSC and ADPKD
by: Aldred, Mark
Published: (2011)

Renal Volume in ADPKD Patient Evaluation
by: M. Galliani, et al.
Published: (2020-01-01)

The role of primary cilia in the pathogenesis of ADPKD
by: Prosseda, Philipp Paolo
Published: (2016)

The BC ADPKD Network: A Comprehensive Provincial Approach to Support Specialized and Locally Delivered Multidisciplinary ADPKD Care
by: M. Bevilacqua, et al.
Published: (2021-07-01)

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling
by: Li Ou, et al.
Published: (2019-09-01)

Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA
by: Peterus Thajeb, et al.
Published: (2006-09-01)

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.
by: Liping Yang, et al.
Published: (2014-01-01)

POS-494 An Open label randomized controlled study to evaluate the role of Metformin to retard the progression of ADPKD
by: A. Roy Chaudhary, et al.
Published: (2021-04-01)

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
by: Claudia Ismania Samogy-Costa, et al.
Published: (2019-07-01)

Desenvolvimento morfológico das gramas Esmeralda, São Carlos e Tifton 419 Morphological development of Emerald, Carpetgrass and Tifton 419 turfgrasses
by: Cleusa Maria Kojoroski-Silva, et al.
Published: (2011-06-01)

Same Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation
by: Raffaella Liccardo, et al.
Published: (2018-01-01)

Genotype-phenotype correlations in FSHD
by: Nikolay Zernov, et al.
Published: (2019-03-01)

Characteristics of 419 patients with acquired middle ear cholesteatoma
by: Letícia Petersen Schmidt Rosito, et al.

Case Student Yumiko and the Footbridge Construction on the Route 419
by: Hiroyuki Kuno, et al.
Published: (2014-06-01)

Case Student Yumiko and the Footbridge Construction on the Route 419
by: Hiroyuki Kuno, et al.
Published: (2014-06-01)

Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience
by: Chutintorn Sriphrapradang, et al.
Published: (2017-04-01)

APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation
by: Giovanna D’Elia, et al.
Published: (2018-06-01)

Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia
by: Tomić Aleksandra, et al.
Published: (2013-01-01)