Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease (original) (raw)

Identification of Novel Pathogenic PKD2 Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease

Reports of biochemistry & molecular biology, 2020

A Novel CAT > GAT (H 3311R) Missense Mutation in Exon 30 of the PKD1 Gene in a Patient Affected With Autosomal Dominant Polycystic Kidney

Alihossein Saberi

Majallah-i taḥqīqāt-i ̒ulūm-i pizishkī-i Zāhidān, 2015

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PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Jehad Abubaker

Scientific Reports

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Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease

Behrooz Broumand

Archives of Iranian Medicine, 2022

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Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease

Danai Palaiologou

International Journal of Pediatrics, 2019

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Examining the Role of Polymorphisms in Exon 25 of the PKD1 Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients

Khadijeh Makhdoomi

2019

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Novel method for genomic analysis ofPKD1andPKD2mutations in autosomal dominant polycystic kidney disease

Raluca Anghel

Human Mutation, 2009

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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

Alkis Pierides

European Journal of Human Genetics, 2001

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Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease

Chang-Chyi Jenq

Journal of Human Genetics, 2013

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing

Jongho Heo

Scientific Reports

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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

Tomas Seeman

BMC Medical Genetics, 2015

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Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease

Uk Kim

Mutation Research/Mutation Research Genomics, 2000

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Mutations of the PKD2 Gene in Taiwanese Patients with Autosomal Dominant Polycystic Kidney Disease

Yah-huei Wu-chou

Renal Failure, 2005

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Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

wafa ali

Pediatric Nephrology, 2019

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Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

Jana Reiterova

BMC Medical Genetics, 2014

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A missense mutation in PKD1 attenuates the severity of renal disease

York Pei

Kidney International, 2012

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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

Jana Reiterova

BMC Medical Genetics, 2009

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Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

Luiz Onuchic

Journal of the American Society of Nephrology, 2003

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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

Katja Vouk

BMC Medical Genetics, 2006

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Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

Alejandro Darnell

Kidney International, 1999

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Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease

Amir Hossein Johari

Nephrology, 2016

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Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)

Pauline Abou-jaoude, Julia Hoefele

Nephrology Dialysis Transplantation, 2011

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PKD2 Genes by Linkage Analysis and Determining the Genotypeiphenotype Correlations in Several Iranian Families with Autosomal Dominant Polycystic Kidney Disease

Behrooz Broumand

2011

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Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease

Uk Kim

Clinical Genetics, 2002

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A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

Søren Nørby, C. Verellen-Dumoulin

The American Journal of Human Genetics, 1997

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Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease (original) (raw)

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