DOI: 10.1046/j.1523-1755.2002.00326.x. A complete mutation screen of the ADPKD genes by DHPLC

A complete mutation screen of the ADPKD genes by DHPLC

10.1046/j.1523-1755.2002.00326.x

Crossref journal-article

Elsevier BV

Kidney International (78)

Bibliography

Rossetti, S., Chauveau, D., Walker, D., Saggar-Malik, A., Winearls, C. G., Torres, V. E., & Harris, P. C. (2002). A complete mutation screen of the ADPKD genes by DHPLC. Kidney International, 61(5), 1588â1599.

Authors 7

Sandro Rossetti (first)
Dominique Chauveau (additional)
Denise Walker (additional)
Anand Saggar-Malik (additional)
Christopher G. Winearls (additional)
Vicente E. Torres (additional)
Peter C. Harris (additional)

References 42 Referenced 130

10.1016/0092-8674(94)90137-6 / Cell / The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16 by Consortium EPKD (1994)
10.1038/ng0695-151 / Nat Genet / The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains by Hughes (1995)
10.1016/0092-8674(95)90339-9 / Cell / Polycystic kidney disease: The complete structure of the PKD1 gene and its protein by International Polycystic Kidney Disease Consortium (1995)
10.1126/science.272.5266.1339 / Science / PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein by Mochizuki (1996)
10.1016/0888-7543(95)80020-M / Genomics / Evidence for a third genetic locus for autosomal dominant polycystic kidney disease by Daoust (1995)
10.1016/S0140-6736(98)03495-3 / Lancet / Comparison of phenotypes of polycystic kidney disease types 1 and 2 by Hateboer (1999)
10.1016/S0960-9822(01)00193-2 / Curr Biol / Human disease: Calcium signaling in polycystic kidney disease by Somlo (2001)
10.1006/geno.1999.5927 / Genomics / Genome duplications and other features in 12 Mbp of DNA sequence from human chromosome 16p and 16q by Loftus (1999)
10.1086/316939 / Am J Hum Genet / Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications by Rossetti (2001)
10.1086/515497 / Am J Hum Genet / A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2) by Veldhuisen (1997)
10.1681/ASN.V9101853 / J Am Soc Nephrol / A spectrum of mutations in the polycystic kidney disease 2 (PKD2) gene from eight Canadian kindreds by Pei (1998)
10.1046/j.1523-1755.1999.00534.x / Kidney Int / Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease by Torra (1999)
10.1086/515467 / Am J Hum Genet / Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene by a novel approach by Peral (1997)
10.1093/hmg/7.8.1239 / Hum Mol Genet / Gene conversion is a likely cause of mutation in PKD1 by Watnick (1998)
10.1086/302657 / Am J Hum Genet / Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease by Watnick (1999)
10.1086/302460 / Am J Hum Genet / Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR by Thomas (1999)
10.1046/j.1523-1755.2000.00302.x / Kidney Int / Thirteen novel mutations of the replicated region of PKD1 in an Asian population by Phakdeekitcharoen (2000)
10.1681/ASN.V125955 / J Am Soc Nephrol / Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples by Phakdeekitcharoen (2001)
10.1038/sj.ejhg.5200459 / Eur J Hum Genet / Novel mutations in the duplicated region of PKD1 gene by Perrichot (2000)
{'key': '10.1046/j.1523-1755.2002.00326.x_bb0105', 'first-page': '10.11', 'article-title': 'DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)', 'volume': '7', 'author': 'Oefner', 'year': '1998', 'journal-title': 'Curr Prot Hum Genet'} / Curr Prot Hum Genet / DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC) by Oefner (1998)
10.1093/clinchem/45.8.1133 / Clin Chem / Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis by Jones (1999)
10.1002/humu.1130 / Hum Mutat / Denaturing high-performance liquid chromatography: A review by Xiao (2001)
10.1016/S0140-6736(94)92026-5 / Lancet / Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1 by Ravine (1994)
10.1006/geno.1997.4851 / Genomics / Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2) by Hayashi (1997)
10.1002/bip.1977.360161209 / Biopolymers / Theory of DNA melting curves by Fixman (1977)
10.1002/1098-1004(200011)16:5<444::AID-HUMU11>3.0.CO;2-C / Hum Mutat / Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: Expression of mutated genes by Aguiari (2000)
10.1093/emboj/18.2.297 / EMBO J / The structure of a PKD domain from polycystin-1: Implication for polycystic kidney disease by Bycroft (1999)
10.1093/hmg/6.9.1483 / Hum Mol Genet / Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains by Sandford (1997)
10.1016/S0960-9822(99)80380-7 / Curr Biol / The PLAT domain: A new piece in the PKD1 puzzle by Bateman (1999)
10.1007/s004390100490 / Hum Genet / Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): Major implications for genetic counselling by Le Marechal (2001)
10.1046/j.1469-1809.1999.6350383.x / Ann Hum Genet / Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2 by Choy (1999)
10.1007/s004390000316 / Hum Genet / Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis by Jones (2000)
10.1007/s004390100500 / Hum Genet / DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: Usefulness and limitations by Klein (2001)
10.1006/geno.1993.1193 / Genomics / The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions by Sheffield (1993)
10.1007/s004390051094 / Hum Genet / DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients by Perrichot (1999)
{'key': '10.1046/j.1523-1755.2002.00326.x_bb0185', 'first-page': '86', 'article-title': 'Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations', 'volume': '58', 'author': 'Peral', 'year': '1996', 'journal-title': 'Am J Human Genet'} / Am J Human Genet / Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations by Peral (1996)
{'key': '10.1046/j.1523-1755.2002.00326.x_bb0190', 'first-page': '317', 'article-title': 'A 2.5kb polypyrimidine tract in PKD1 gene contains at least 23 H-DNA-forming sequences', 'volume': '1', 'author': 'Van Raay', 'year': '1996', 'journal-title': 'Microb Comp Genomics'} / Microb Comp Genomics / A 2.5kb polypyrimidine tract in PKD1 gene contains at least 23 H-DNA-forming sequences by Van Raay (1996)
{'key': '10.1046/j.1523-1755.2002.00326.x_bb0195', 'series-title': 'Metabolic and Molecular Bases of Inherited Disease', 'first-page': '259', 'article-title': 'The nature and mechanisms of human gene mutation,', 'author': 'Cooper', 'year': '1995'} / Metabolic and Molecular Bases of Inherited Disease / The nature and mechanisms of human gene mutation, by Cooper (1995)
10.1681/ASN.V9122291 / J Am Soc Nephrol / High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing by Martin (1998)
10.1016/S0092-8674(00)81793-6 / Cell / The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1 by Qian (1996)
10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P / Am J Med Genet / Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exon 44 and 45 of the PKD1 gene by Rossetti (1996)
10.1046/j.1523-1755.1999.00368.x / Kidney Int / Mutational analysis within the 3′ region of the PKD1 gene by Badenas (1999)

Dates

Type	When
Created	22 years, 5 months ago (March 12, 2003, 4:48 a.m.)
Deposited	4 years, 3 months ago (May 16, 2021, 12:21 a.m.)
Indexed	3 weeks, 1 day ago (Aug. 12, 2025, 6:06 p.m.)
Issued	23 years, 4 months ago (May 1, 2002)
Published	23 years, 4 months ago (May 1, 2002)
Published Print	23 years, 4 months ago (May 1, 2002)

Funders 0

None

BibTeX

@article{Rossetti_2002, title={A complete mutation screen of the ADPKD genes by DHPLC}, volume={61}, ISSN={0085-2538}, url={http://dx.doi.org/10.1046/j.1523-1755.2002.00326.x}, DOI={10.1046/j.1523-1755.2002.00326.x}, number={5}, journal={Kidney International}, publisher={Elsevier BV}, author={Rossetti, Sandro and Chauveau, Dominique and Walker, Denise and Saggar-Malik, Anand and Winearls, Christopher G. and Torres, Vicente E. and Harris, Peter C.}, year={2002}, month=may, pages={1588–1599} }

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      "author": "Sheffield",
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