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- [31] Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variantEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, : 556 - 557Daga, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy Univ Siena, Med Genet, Siena, ItalyLoberti, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy Azienda Ospedaliero Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, ItalyRollo, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy Univ Siena, Med Genet, Siena, ItalyAdamo, Loredaria论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy Univ Siena, Med Genet, Siena, ItalyColavecchio, Olga Lorenza论文数: 0 引用数: 0 h-index: 0机构: Azienda Ospedaliero Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, ItalyBrunelli, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy CNR, Inst Informat & Telematics, Pisa, Italy Univ Siena, Med Genet, Siena, Italy论文数: 引用数: h-index:机构:Tripodi, Sergio Antonio论文数: 0 引用数: 0 h-index: 0机构: AOUS, Dept Pathol, Siena, Italy Univ Siena, Med Genet, Siena, ItalyGuarnieri, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Siena, Dept Med Sci, Nephrol Dialysis & Transplantat Unit, Siena, Italy Univ Siena, Med Genet, Siena, ItalyGarosi, Guido论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Siena, Dept Med Sci, Nephrol Dialysis & Transplantat Unit, Siena, Italy Univ Siena, Med Genet, Siena, ItalyD'Aurizio, Romina论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Informat & Telematics, Pisa, Italy Univ Siena, Med Genet, Siena, ItalyAriani, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy Azienda Ospedaliero Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, ItalyTita, Rossella论文数: 0 引用数: 0 h-index: 0机构: Azienda Ospedaliero Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, Italy论文数: 引用数: h-index:机构:Pinto, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Azienda Ospedaliero Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, Italy
- [32] COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndromePEDIATRIC NEPHROLOGY, 2020, 35 (10) : 1941 - 1952Ozdemir, Gulsah论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyGulhan, Bora论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyAtayar, Emine论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Div Pediat Nephrol, Nephrogenet Lab, Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeySaygili, Seha论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Fac Med, Div Pediat Nephrol, Istanbul, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeySoylemezoglu, Oguz论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Div Pediat Nephrol, Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyOzcakar, Zeynep Birsin论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Fac Med, Div Pediat Nephrol, Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyEroglu, Fehime Kara论文数: 0 引用数: 0 h-index: 0机构: Dr Sami Ulus Matern & Childrens Hlth Hosp, Div Pediat Nephrol, Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyCandan, Cengiz论文数: 0 引用数: 0 h-index: 0机构: Istanbul Medeniyet Univ, Goztepe Training & Res Hosp, Div Pediat Nephrol, Istanbul, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyDemir, Belde Kasap论文数: 0 引用数: 0 h-index: 0机构: Tepecik Training & Res Hosp, Div Pediat Nephrol, Izmir, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeySoylu, Alper论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Fac Med, Div Pediat Nephrol, Izmir, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyYuksel, Selcuk论文数: 0 引用数: 0 h-index: 0机构: Pamukkale Univ, Fac Med, Div Pediat Nephrol, Denizli, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyAlpay, Harika论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Div Pediat Nephrol, Istanbul, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyAgbas, Ayse论文数: 0 引用数: 0 h-index: 0机构: Haseki Training & Res Hosp, Div Pediat Nephrol, Istanbul, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyDuzova, Ali论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, TurkeyHayran, Mutlu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Prevent Oncol, Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, Turkey论文数: 引用数: h-index:机构:Topaloglu, Rezan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, Turkey Hacettepe Univ, Fac Med, Div Pediat Nephrol, TR-06230 Ankara, Turkey
- [33] Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndromeNEPHROLOGY, 2015, 20 (08) : 580 - 580Sirisena, Nirmala D.论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri Lanka Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri LankaThalgahagoda, Shenal论文数: 0 引用数: 0 h-index: 0机构: Teaching Hosp Peradeniya, Professorial Paediat Unit, Peradeniya, Sri Lanka Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri LankaAbeyagunawardena, Asiri论文数: 0 引用数: 0 h-index: 0机构: Teaching Hosp Peradeniya, Professorial Paediat Unit, Peradeniya, Sri Lanka Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri LankaNeumann, Manuela论文数: 0 引用数: 0 h-index: 0机构: Schmudlach Oswald Kettermann & Kollegen, Lab MVZ West Mecklenburg, Schwerin Mv, Germany Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri LankaSchmudlach, Hans-Otto论文数: 0 引用数: 0 h-index: 0机构: Schmudlach Oswald Kettermann & Kollegen, Lab MVZ West Mecklenburg, Schwerin Mv, Germany Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri LankaJayasekara, Rohan W.论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri Lanka Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri LankaDissanayake, Vajira H. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri Lanka Univ Colombo, Human Genet Unit, Fac Med, Colombo, Sri Lanka
- [34] Alport综合征家系COL4A3、COL4A4、COL4A5基因突变分析国际医药卫生导报, 2019, (23) : 3823 - 3826何威论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科李文成论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科孙丽娟论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科邱桂霞论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科徐建峰论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科马媛媛论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科王伟光论文数: 0 引用数: 0 h-index: 0机构: 广东省妇幼保健院广东省儿童医院儿科
- [35] Heterozygous COL4A3 and COL4A4 patients with classic Alport syndrome morphology - unexpected genetic testing results after kidney biopsyVIRCHOWS ARCHIV, 2021, 479 (SUPPL 1) : S43 - S43Senjug, P.论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, CroatiaHoracek, M.论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, CroatiaMartic, T. Nikuseva论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, CroatiaDurdov, M. Glavina论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, CroatiaDordevic, G.论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, CroatiaCoric, M.论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, CroatiaLjubanovic, D. Galesic论文数: 0 引用数: 0 h-index: 0机构: Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Croatia
- [36] A COL4A3 MUTATION IN A FEMALE WITH ALPORT SYNDROME (AS) AND POSTTRANSPLANT ANTI-GBM NEPHRITISJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1994, 5 (03): : 644 - 644DING, J论文数: 0 引用数: 0 h-index: 0机构: UNIV MINNESOTA,SCH MED,MINNEAPOLIS,MN 55455STITZEL, J论文数: 0 引用数: 0 h-index: 0机构: UNIV MINNESOTA,SCH MED,MINNEAPOLIS,MN 55455BERRY, P论文数: 0 引用数: 0 h-index: 0机构: UNIV MINNESOTA,SCH MED,MINNEAPOLIS,MN 55455HAWKINS, E论文数: 0 引用数: 0 h-index: 0机构: UNIV MINNESOTA,SCH MED,MINNEAPOLIS,MN 55455KASHTAN, C论文数: 0 引用数: 0 h-index: 0机构: UNIV MINNESOTA,SCH MED,MINNEAPOLIS,MN 55455
- [37] COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndromePediatric Nephrology, 2020, 35 : 1941 - 1952Gulsah Ozdemir论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineBora Gulhan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineEmine Atayar论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineSeha Saygılı论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineOguz Soylemezoglu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineZeynep Birsin Ozcakar论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineFehime Kara Eroglu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineCengiz Candan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineBelde Kasap Demir论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineAlper Soylu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineSelçuk Yüksel论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineHarika Alpay论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineAyse Agbas论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineAli Duzova论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineMutlu Hayran论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineFatih Ozaltin论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of MedicineRezan Topaloglu论文数: 0 引用数: 0 h-index: 0机构: Hacettepe University,Division of Pediatric Nephrology, Faculty of Medicine
- [38] New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cellsEuropean Journal of Human Genetics, 2020, 28 : 480 - 490Sergio Daga论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsFrancesco Donati论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsKatia Capitani论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsSusanna Croci论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsRossella Tita论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsAnnarita Giliberti论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsFloriana Valentino论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsElisa Benetti论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsChiara Fallerini论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsFrancesca Niccheri论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsMargherita Baldassarri论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsMaria Antonietta Mencarelli论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsElisa Frullanti论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsSimone Furini论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsSilvestro Giovanni Conticello论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsAlessandra Renieri论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsAnna Maria Pinto论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical Genetics
- [39] New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cellsEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (04) : 480 - 490Daga, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Genet, Siena, ItalyDonati, Francesco论文数: 0 引用数: 0 h-index: 0机构: ISPRO, Core Res Lab, Florence, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy Univ Siena, Med Genet, Siena, ItalyCapitani, Katia论文数: 0 引用数: 0 h-index: 0机构: ISPRO, Core Res Lab, Florence, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy Univ Siena, Med Genet, Siena, ItalyCroci, Susanna论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Genet, Siena, ItalyTita, Rossella论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, ItalyGiliberti, Annarita论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Genet, Siena, ItalyValentino, Floriana论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Genet, Siena, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Niccheri, Francesca论文数: 0 引用数: 0 h-index: 0机构: ISPRO, Core Res Lab, Florence, Italy Univ Siena, Med Genet, Siena, ItalyBaldassarri, Margherita论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, ItalyMencarelli, Maria Antonietta论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, ItalyFrullanti, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Med Genet, Siena, Italy论文数: 引用数: h-index:机构:Conticello, Silvestro Giovanni论文数: 0 引用数: 0 h-index: 0机构: ISPRO, Core Res Lab, Florence, Italy Univ Siena, Med Genet, Siena, Italy论文数: 引用数: h-index:机构:Pinto, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, Italy
- [40] New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cellsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (01) : 131 - 131Daga, Sergio论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsDonati, Francesco论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsCapitani, Katia论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsCroci, Susanna论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsTita, Rossella论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsGiliberti, Annarita论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsValentino, Floriana论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsBenetti, Elisa论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsFallerini, Chiara论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsNiccheri, Francesca论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsBaldassarri, Margherita论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsMencarelli, Maria Antonietta论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsFrullanti, Elisa论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsFurini, Simone论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsConticello, Silvestro Giovanni论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsRenieri, Alessandra论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical GeneticsPinto, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: University of Siena,Medical Genetics