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Refinado por: assunto: Life Sciences & Biomedicine remover assunto: Mutation remover
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The HNF1B score is a simple tool to select patients for HNF1B gene analysis
The HNF1B score is a simple tool to select patients for HNF1B gene analysis
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The HNF1B score is a simple tool to select patients for HNF1B gene analysis

Faguer, Stanislas ; Chassaing, Nicolas ; Bandin, Flavio ; Prouheze, Cathie ; Garnier, Arnaud ; Casemayou, Audrey ; Huart, Antoine ; Schanstra, Joost P. ; Calvas, Patrick ; Decramer, Stéphane ; Chauveau, Dominique

Kidney international, 2014-11, Vol.86 (5), p.1007-1015 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Eckardt, Kai-Uwe ; Alper, Seth L. ; Antignac, Corinne ; Bleyer, Anthony J. ; Chauveau, Dominique ; Dahan, Karin ; Deltas, Constantinos ; Hosking, Andrew ; Kmoch, Stanislav ; Rampoldi, Luca ; Wiesener, Michael ; Wolf, Matthias T. ; Devuyst, Olivier

Kidney international, 2015-10, Vol.88 (4), p.676-683 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Nephronophthisis
Nephronophthisis
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Nephronophthisis

Wolf, Matthias T. F. ; Hildebrandt, Friedhelm

Pediatric nephrology (Berlin, West), 2011-02, Vol.26 (2), p.181-194 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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4
Renal plasticity revealed through reversal of polycystic kidney disease in mice
Renal plasticity revealed through reversal of polycystic kidney disease in mice
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Renal plasticity revealed through reversal of polycystic kidney disease in mice

Dong, Ke ; Zhang, Chao ; Tian, Xin ; Coman, Daniel ; Hyder, Fahmeed ; Ma, Ming ; Somlo, Stefan

Nature genetics, 2021-12, Vol.53 (12), p.1649-1663 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Prospective Evaluation of Kidney Disease in Joubert Syndrome
Prospective Evaluation of Kidney Disease in Joubert Syndrome
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Prospective Evaluation of Kidney Disease in Joubert Syndrome

Fleming, Leah R ; Doherty, Daniel A ; Parisi, Melissa A ; Glass, Ian A ; Bryant, Joy ; Fischer, Roxanne ; Turkbey, Baris ; Choyke, Peter ; Daryanani, Kailash ; Vemulapalli, Meghana ; Mullikin, James C ; Malicdan, May Christine ; Vilboux, Thierry ; Sayer, John A ; Gahl, William A ; Gunay-Aygun, Meral

Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973 [Periódico revisado por pares]

United States: American Society of Nephrology

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6
Proximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses
Proximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses
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Proximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses

Kishi, Seiji ; Brooks, Craig R ; Taguchi, Kensei ; Ichimura, Takaharu ; Mori, Yutaro ; Akinfolarin, Akinwande ; Gupta, Navin ; Galichon, Pierre ; Elias, Bertha C ; Suzuki, Tomohisa ; Wang, Qian ; Gewin, Leslie ; Morizane, Ryuji ; Bonventre, Joseph V

The Journal of clinical investigation, 2019-11, Vol.129 (11), p.4797-4816 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
New insights into the role of HNF-1β in kidney (patho)physiology
New insights into the role of HNF-1β in kidney (patho)physiology
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New insights into the role of HNF-1β in kidney (patho)physiology

Ferrè, Silvia ; Igarashi, Peter

Pediatric nephrology (Berlin, West), 2019-08, Vol.34 (8), p.1325-1335 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects
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Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects

Dubois-Laforgue, Danièle ; Cornu, Erika ; Saint-Martin, Cécile ; Coste, Joël ; Bellanné-Chantelot, Christine ; Timsit, José

Diabetes care, 2017-11, Vol.40 (11), p.1436-1443 [Periódico revisado por pares]

United States: American Diabetes Association

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9
The importance of total kidney volume in evaluating progression of polycystic kidney disease
The importance of total kidney volume in evaluating progression of polycystic kidney disease
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The importance of total kidney volume in evaluating progression of polycystic kidney disease

Grantham, Jared J ; Torres, Vicente E

Nature reviews. Nephrology, 2016-11, Vol.12 (11), p.667-677 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases
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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases

Mansilla, M Adela ; Sompallae, Ramakrishna R ; Nishimura, Carla J ; Kwitek, Anne E ; Kimble, Mycah J ; Freese, Margaret E ; Campbell, Colleen A ; Smith, Richard J ; Thomas, Christie P

Nephrology, dialysis, transplantation, 2021-01, Vol.36 (2), p.295-305 [Periódico revisado por pares]

England: Oxford University Press

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