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- [21] Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)NEPHROLOGY DIALYSIS TRANSPLANTATION, 2011, 26 (07) : 2181 - 2188Hoefele, Julia论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, Germany Univ Munich, Univ Childrens Hosp, Dr von Haunersches Kinderspital, Munich, Germany Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, GermanyMayer, Karin论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, GermanyScholz, Manuela论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, GermanyKlein, Hanns-Georg论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein & Dr Rost, Martinsried, Germany
- [22] PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney diseaseBMC MEDICAL GENETICS, 2006, 7Vouk, K论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaStrmecki, L论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaStekrova, J论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaReiterova, J论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaBidovec, M论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaHudler, P论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaKenig, A论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaJereb, S论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaZupanic-Pajnic, I论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaBalazic, J论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaHaarpaintner, G论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaLeskovar, B论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaAdamlje, A论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaSkoflic, A论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaDovc, R论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaHojs, R论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, SloveniaKomel, R论文数: 0 引用数: 0 h-index: 0机构: Fac Med, Inst Biochem, Med Ctr Mol Biol, Ljubljana 1000, Slovenia
- [23] Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (08) : 860 - 872Veldhuisen, B论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, NetherlandsSpruit, L论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, NetherlandsDauwerse, HG论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, NetherlandsBreuning, MH论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, NetherlandsPeters, DJM论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands Leiden Univ, Med Ctr, MGC Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands
- [24] Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cellsAMERICAN JOURNAL OF KIDNEY DISEASES, 1999, 33 (05) : 880 - 885Aguiari, G论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyManzati, E论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyPenolazzi, L论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyMicheletti, F论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyAugello, G论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyVitali, ED论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyCappelli, G论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyCai, YQ论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyReynolds, D论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalySomlo, S论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, ItalyPiva, R论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, Italydel Senno, L论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dipartmento Biochim & Biol Mol, Sez Studi Biochim Patol Genoma, I-44100 Ferrara, Italy
- [25] Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish PopulationTURKISH JOURNAL OF NEPHROLOGY, 2020, 29 (04): : 304 - 309Sezgin, Ilhan论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyKayatas, Mansur论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Nephrol, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyKurtulgan, Hande Kucuk论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyYildirim, Malik Ejder论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyBaser, Burak论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyTimucin, Meryem论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyBagci, Gokhan论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, TurkeyKoz, Suleyman论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Dept Nephrol, Sch Med, Sivas, Turkey Sivas Cumhuriyet Univ, Dept Med Genet, Sch Med, Sivas, Turkey
- [26] Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney DiseaseJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2016, 27 (03): : 722 - 729Audrezet, Marie-Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceCorbiere, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceLebbah, Said论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceMoriniere, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceBroux, Francoise论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Charles Nicolle, Pediat Nephrol & Hemodialysis Unit, Dept Med Pediat, Rouen, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceLouillet, Ferielle论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Charles Nicolle, Pediat Nephrol & Hemodialysis Unit, Dept Med Pediat, Rouen, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceFischbach, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Strasbourg Strasbourg, Dept Pediat 1, Strasbourg, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceZaloszyc, Ariane论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Strasbourg Strasbourg, Dept Pediat 1, Strasbourg, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceCloarec, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Tours, Clocheville Hosp, Dept Pediat Nephrol & Hemodialysis, Tours, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceMerieau, Elodie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Tours, Clocheville Hosp, Dept Pediat Nephrol & Hemodialysis, Tours, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceBaudouin, Veronique论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Robert Debre, AP HP, Dept Pediat Nephrol, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceDeschenes, Georges论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Robert Debre, AP HP, Dept Pediat Nephrol, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceRoussey, Gwenaelle论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ Hosp, Dept Pediat, Nantes, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceMaestri, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceVisconti, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceBoyer, Olivia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Paris 05, Sorbonne Paris Cite, INSERM, U1163,Lab Hereditary Kidney Dis, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceAbel, Carine论文数: 0 引用数: 0 h-index: 0机构: Croix Rousse Hosp Lyon, Hosp Civils Lyon, Dept Med Genet, Lyon, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceLahoche, Annie论文数: 0 引用数: 0 h-index: 0机构: Reg Univ Hosp Lille, Jeanne Flandre Hosp, Pediat Nephrol Unit, Lille, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceRandrianaivo, Hanitra论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp St Pierre Reunion, Med Genet Unit, St Pierre, Reunion, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceBesenay, Lucie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Estaing, Dept Pediat & Pediat Nephrol, Clermont Ferrand, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceMekahli, Djalila论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Pediat Nephrol, Leuven, Belgium Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceOuertani, Ines论文数: 0 引用数: 0 h-index: 0机构: Charles Nicolle Hosp, Dept Congenital & Inherited Dis, Tunis, Tunisia Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceDecramer, Stephane论文数: 0 引用数: 0 h-index: 0机构: Children Hosp Toulouse, Dept Pediat Nephrol, Toulouse, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceRyckenwaert, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Pediat, Rennes, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceCornec-Le Gall, Emilie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceSalomon, Remi论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Paris 05, Sorbonne Paris Cite, INSERM, U1163,Lab Hereditary Kidney Dis, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceFerec, Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, FranceHeidet, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Necker Enfants Malades Paris, AP HP, Dept Pediat Nephrol, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France Univ Hosp Brest, Inst Natl Sante & Rech Med, Lab Mol Genet & Histocompatibil, U1078, Brest, France
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