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1. Full Text Acute kidney injury complicating nephrotic syndrome of minimal change disease
by Meyrier, Alain and Niaudet, Patrick
Kidney international, ISSN 0085-2538, 11/2018, Volume 94, Issue 5, pp. 861 - 869
kidney biopsy | children | diuretics | adults | nephrotoxic drugs | endothelin-1 | minimal-change nephrotic syndrome | AKI | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Index Medicus
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2. Full Text Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
by Rossetti, Sandro and Kubly, Vickie J and Consugar, Mark B and Hopp, Katharina and Roy, Sushmita and Horsley, Sharon W and Chauveau, Dominique and Rees, Lesley and Barratt, T. Martin and van't Hoff, William G and Niaudet, W. Patrick and Torres, Vicente E and Harris, Peter C
Kidney international, ISSN 0085-2538, 04/2009, Volume 75, Issue 8, pp. 848 - 855
mutation | ADPKD | hypomorphic allele | childhood | PKD1 | Mutation | Childhood | Hypomorphic allele | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Nephrology. Urinary tract diseases | Biological and medical sciences | Kidneys | Medical sciences | Malformations of the urinary system | DNA Mutational Analysis | Pedigree | Humans | Alleles | Cysts - genetics | Family Health | Genotype | Penetrance | Gene Dosage | Kidney Failure, Chronic | Mutation, Missense | TRPP Cation Channels - genetics | Index Medicus
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3. Full Text KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
by Louis-Dit-Picard, Hélène and Barc, Julien and Trujillano, Daniel and Miserey-Lenkei, Stéphanie and Bouatia-Naji, Nabila and Pylypenko, Olena and Beaurain, Geneviève and Bonnefond, Amélie and Sand, Olivier and Simian, Christophe and Vidal-Petiot, Emmanuelle and Soukaseum, Christelle and Mandet, Chantal and Broux, Françoise and Chabre, Olivier and Delahousse, Michel and Esnault, Vincent and Fiquet, Béatrice and Houillier, Pascal and Bagnis, Corinne Isnard and Koenig, Jens and Konrad, Martin and Landais, Paul and Mourani, Chebel and Niaudet, Patrick and Probst, Vincent and Thauvin, Christel and Unwin, Robert J and Soroka, Steven D and Ehret, Georg and Ossowski, Stephan and Caulfield, Mark and Bruneval, Patrick and Estivill, Xavier and Froguel, Philippe and Hadchouel, Juliette and Schott, Jean-Jacques and Jeunemaitre, Xavier and Int Consortium Blood Pressure ICBP and International Consortium for Blood Pressure (ICBP)
Nature genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 456 - 460
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Arterial hypertension. Arterial hypotension | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Blood and lymphatic vessels | Blood Pressure - genetics | Humans | Middle Aged | Pseudohypoaldosteronism - physiopathology | Molecular Sequence Data | Male | Young Adult | Kidney - metabolism | Base Sequence | Aged, 80 and over | Adult | Female | Pseudohypoaldosteronism - metabolism | Child | Amino Acid Sequence | Sodium Chloride Symporters - metabolism | Signal Transduction | Sodium Chloride Symporters - genetics | Pseudohypoaldosteronism - genetics | Sequence Analysis, DNA | Carrier Proteins - genetics | Adolescent | Aged | Polymorphism, Single Nucleotide | Nephrons - metabolism | Ion Transport - genetics | Hypertension | Ubiquitin | Physiological aspects | Genetic aspects | Research | Gene mutations | Proteins | Genetics | Mutation | Genes | Index Medicus | Life Sciences
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4. Full Text Living donor kidney transplantation in patients with hereditary nephropathies
by Niaudet, Patrick
Nature reviews. Nephrology, ISSN 1759-5061, 12/2010, Volume 6, Issue 12, pp. 736 - 743
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Fabry Disease - genetics | Humans | Cystinosis - genetics | Cystinosis - surgery | Living Donors | Nephrotic Syndrome - genetics | Nephrotic Syndrome - surgery | Arteriosclerosis - genetics | Kidney Diseases - genetics | Abnormalities, Multiple - surgery | Patient Selection | Hemolytic-Uremic Syndrome - genetics | Hyperoxaluria - surgery | Osteochondrodysplasias - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Hemolytic-Uremic Syndrome - surgery | Kidney Diseases, Cystic - genetics | Abnormalities, Multiple - genetics | Pulmonary Embolism - genetics | Osteochondrodysplasias - surgery | Risk Factors | Kidney Diseases, Cystic - surgery | Nephritis, Hereditary - genetics | Pupil Disorders - surgery | Kidney Transplantation | Eye Abnormalities - genetics | Eye Abnormalities - surgery | Pupil Disorders - genetics | Immunologic Deficiency Syndromes - surgery | Arteriosclerosis - surgery | Nephritis, Hereditary - surgery | Immunologic Deficiency Syndromes - genetics | Kidney Diseases - surgery | Fabry Disease - surgery | Pulmonary Embolism - surgery | Hyperoxaluria - genetics | Kidney Diseases, Cystic - congenital | Polycystic Kidney, Autosomal Dominant - surgery | Care and treatment | Relapse | Kidneys | Chronic kidney failure | Organ transplant recipients | Development and progression | Genetic aspects | Transplantation | Research | Health aspects | Risk factors | Diseases | Index Medicus
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5. Full Text Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
by Consugar, Mark B and Wong, Wai C and Lundquist, Patrick A and Rossetti, Sandro and Kubly, Vickie J and Walker, Denise L and Rangel, Laureano J and Aspinwall, Richard and Niaudet, W. Patrick and Özen, Seza and David, Albert and Velinov, Milen and Bergstralh, Eric J and Bae, Kyongtae T and Chapman, Arlene B and Guay-Woodford, Lisa M and Grantham, Jared J and Torres, Vicente E and Sampson, Julian R and Dawson, Brian D and Harris, Peter C and for the CRISP Consortium and CRISP Consortium
Kidney international, ISSN 0085-2538, 12/2008, Volume 74, Issue 11, pp. 1468 - 1479
mosaic | PKD1/TSC2-CGS | ADPKD | MLPA | PKD2 | deletions | Mosaic | Deletions | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Nephrology. Urinary tract diseases | Biological and medical sciences | Kidneys | Medical sciences | Malformations of the urinary system | DNA Mutational Analysis - standards | Humans | Family Health | Male | DNA Mutational Analysis - methods | TRPP Cation Channels - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Pedigree | Polycystic Kidney, Autosomal Dominant - diagnosis | Gene Deletion | Gene Rearrangement | Tumor Suppressor Proteins - genetics | Female | Mutation | Index Medicus | TSC2-CGS | PKD1
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6. Full Text WT1 and glomerular diseases
by Niaudet, Patrick and Gubler, Marie-Claire
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 11/2006, Volume 21, Issue 11, pp. 1653 - 1660
Pediatrics | Denys-Drash syndrome | Nephrology | Frasier syndrome | WT1 gene | Wilms’ tumor | Medicine & Public Health | Diffuse mesangial sclerosis | Glomerular disease | FSGS | Urology | Wilms' tumor | Wilms Tumor - genetics | Kidney Diseases - pathology | Humans | Frasier Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Genetic Counseling | Kidney Diseases - genetics | Wilms Tumor - pathology | Chromosomes, Human, X | Frasier Syndrome - genetics | Sclerosis - genetics | Chromosomes, Human, Y | Glomerular Mesangium - pathology | Genes, Wilms Tumor | Sclerosis - pathology | Female | Mutation | Child | Denys-Drash Syndrome - pathology | Index Medicus
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7. Full Text Eculizumab in Severe Shiga-Toxin–Associated HUS
by Fremeaux-Bacchi, Véronique and Boppel, Tobias and Oualha, Mehdi and Malina, Michal and Proulx, François and Schaefer, Franz and Lapeyraque, Anne-Laure and Kirschfink, Michael and Niaudet, Patrick and Clermont, Marie-José and Le Deist, Françoise
The New England journal of medicine, ISSN 0028-4793, 06/2011, Volume 364, Issue 26, pp. 2561 - 2563
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Antibodies, Monoclonal, Humanized | Hemolytic-Uremic Syndrome - microbiology | Humans | Shiga-Toxigenic Escherichia coli | Child, Preschool | Antibodies, Monoclonal - therapeutic use | Hemolytic-Uremic Syndrome - therapy | Escherichia coli Infections - complications | Hemolytic-Uremic Syndrome - drug therapy | Renal Dialysis | Shiga Toxin - adverse effects | Nervous system | Children | Mutation | Patients
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8. Full Text Nephronophthisis
by Salomon, Rémi and Saunier, Sophie and Niaudet, Patrick
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 2009, Volume 24, Issue 12, pp. 2333 - 2344
Cystic kidney disease | Ciliopathy | Senior-Løken syndrome | Chronic renal failure | Nephronophthisis | Chronic tubulointerstitial nephritis | Pediatrics | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Kidney Failure, Chronic - genetics | Polycystic Kidney Diseases - genetics | Cilia - pathology | Nephritis, Interstitial - genetics | Humans | Retinitis Pigmentosa - genetics | Child | Genes, Recessive | Index Medicus | Educational Review
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