Condition: Autosomal Recessive Polycystic Kidney Disease
rs766551411 in
LOC105371049;MIR1225;PKD1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 25333066 2014 Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
rs1057517047 in
LOC105375087;PKHD1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
PMID 12846734 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
PMID 11919560 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
PMID 25701400 2015 A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
PMID 12874454 2003 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
PMID 25015577 2014 Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
PMID 15108281 2004 PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
PMID 16677362 2006 Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
PMID 26721323 2016 An Ashkenazi founder mutation in the PKHD1 gene.
PMID 26385851 2015 Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
PMID 19940839 2010 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
PMID 24162162 2014 Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
PMID 27577217 2016 [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 27225849 2016 Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
PMID 16133180 2005 Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
PMID 23582048 2013 Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
PMID 27752906 2016 Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.
PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
rs1045675831 in
MIR1225;PKD1;TSC2;LOC105371049 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 26632257 2015 Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
rs1555454411 in
MIR6511B1;PKD1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 22508176 2012 Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
PMID 11115377 2001 Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
rs1222094213 in
PKD1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 24374109 2014 Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
PMID 17582161 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
PMID 17574468 2007 Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
PMID 22508176 2012 Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
PMID 22031115 2012 A missense mutation in PKD1 attenuates the severity of renal disease.
PMID 21551026 2011 Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.
rs1555444225 in
PKD1;LOC105371049;MIR1225 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
rs1555444468 in
PKD1;MIR1225;LOC105371049 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 26453610 2016 Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
rs1555454145 in
PKD1;MIR6511B1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 17582161 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
rs1037991711 in
PKHD1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 25015577 2014 Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
PMID 15108281 2004 PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
PMID 16133180 2005 Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
PMID 12846734 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
PMID 27225849 2016 Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
PMID 26695994 2015 Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
PMID 24162162 2014 Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
PMID 25701400 2015 A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
PMID 16677362 2006 Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
PMID 12874454 2003 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
PMID 11919560 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
PMID 16632497 2006 G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
PMID 16523049 2006 Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
PMID 19021639 2009 Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
PMID 25114813 2014 Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
PMID 15696446 2005 Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
PMID 15108277 2004 PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
PMID 20413436 2010 Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
PMID 16199545 2005 Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
PMID 21274727 2011 First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations.
PMID 25124979 2014 Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
PMID 19940839 2010 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
PMID 24984783 2014 Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
PMID 15706593 2005 Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
PMID 25966130 2015 Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
PMID 14741187 2004 Molecular genetics of autosomal recessive polycystic kidney disease.
PMID 22034641 2011 Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
PMID 14971004 2004 Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.
PMID 19940939 2009 Rhizobacteria containing ACC-deaminase confer salt tolerance in maize grown on salt-affected fields.
PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
PMID 28851938 2017 Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
PMID 24710345 2014 Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
PMID 29643536 2018 [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
PMID 1189128 1975 [Neoplasic perineal implantation following needle biopsy (author's transl)].
PMID 18503009 2008 Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.
PMID 12925574 2003 Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
PMID 23582048 2013 Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
PMID 26721323 2016 An Ashkenazi founder mutation in the PKHD1 gene.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 28170084 2017 Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
PMID 29956005 2018 Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
PMID 23389334 2013 The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated.
PMID 25193386 2015 Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.
PMID 21945273 2011 Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
rs1057516345 in
PKHD1;LOC105375087 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
PMID 15108281 2004 PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
PMID 12846734 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
PMID 12874454 2003 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
PMID 25701400 2015 A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
PMID 11919560 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
PMID 16677362 2006 Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
PMID 25015577 2014 Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
PMID 27752906 2016 Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.
PMID 19940839 2010 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
PMID 15108277 2004 PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).