Condition: POLYCYSTIC KIDNEY DISEASE 1


rs1282668884 in LOC105371049;MIR1225;PKD1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

rs781492044 in LOC105371049;PKD1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

rs886038369 in MIR3180-5;PKD1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

rs151257298 in MIR6511B1;PKD1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

rs1358566538 in PKD1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 23064367 2012 Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

PMID 19165178 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

PMID 26139440 2016 Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

rs1057516041 in PKD1;LOC105371049 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

rs139971481 in PKD1;MIR6511B1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.