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1. Full Text Autosomal dominant tubulointerstitial kidney disease: of names and genes
by Bleyer, Anthony J and Kmoch, Stanislav
Kidney international, ISSN 0085-2538, 09/2014, Volume 86, Issue 3, pp. 459 - 461
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Chromosomes, Human, Pair 1 | Nephritis, Interstitial - pathology | Nephritis, Interstitial - genetics | Humans | Chromosome Aberrations | Chromosomes, Human, Pair 16 | Female | Male | Kidney Tubules - pathology | Uromodulin - genetics | Mucin-1 - genetics | Index Medicus
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2. Full Text Diagnostic Utility of Exome Sequencing for Kidney Disease
by Bleyer, Anthony J and Kmoch, Stanislav and Greka, Anna
The New England journal of medicine, ISSN 0028-4793, 05/2019, Volume 380, Issue 21, pp. 2080 - 2080
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology
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3. Full Text Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
by Eckardt, Kai-Uwe and Alper, Seth L and Antignac, Corinne and Bleyer, Anthony J and Chauveau, Dominique and Dahan, Karin and Deltas, Constantinos and Hosking, Andrew and Kmoch, Stanislav and Rampoldi, Luca and Wiesener, Michael and Wolf, Matthias T and Devuyst, Olivier and Kidney Disease: Improving Global Outcomes
Kidney international, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
kidney disease | uromodulin | hepatocyte nuclear factor-1β | genetics | mucin-1 | renin | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Predictive Value of Tests | Humans | Kidney Diseases - diagnosis | Polycystic Kidney, Autosomal Dominant - therapy | Gout - diagnosis | Nephrology - standards | Kidney Diseases - genetics | Uromodulin - classification | Uromodulin - deficiency | Polycystic Kidney, Autosomal Dominant - genetics | DNA Mutational Analysis | Hyperuricemia - therapy | Uromodulin - genetics | Genetic Predisposition to Disease | Kidney Diseases - classification | Hyperuricemia - diagnosis | Hyperuricemia - classification | Terminology as Topic | Treatment Outcome | Consensus | Hyperuricemia - genetics | Gout - therapy | Phenotype | Polycystic Kidney, Autosomal Dominant - diagnosis | Kidney Diseases - therapy | Gout - classification | Gout - genetics | Polycystic Kidney, Autosomal Dominant - classification | Mutation | Index Medicus
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4. Full Text Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice
by Nakajima, Kazuo and Miranda, Alannah and Craig, David W and Shekhtman, Tatyana and Kmoch, Stanislav and Bleyer, Anthony and Szelinger, Szabolcs and Kato, Tadafumi and Kelsoe, John R
Translational psychiatry, ISSN 2158-3188, 12/2020, Volume 10, Issue 1, pp. 407 - 407
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Bipolar disorder | Genomes | Mutation | Stem cells | Index Medicus
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5. Modern methods in diagnostics and research of molecular bases of rare diseases
by Kmoch, Stanislav and Zeman, Jiří
Časopis lékařů českých, ISSN 0008-7335, 2018, Volume 157, Issue 3, pp. 133 - 136
Rare diseases | Complex disorders | Gene mapping | Whole exome sequencing
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6. Full Text The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations
by Bleyer, Anthony J and Kmoch, Stanislav
Kidney international reports, ISSN 2468-0249, 12/2020, Volume 5, Issue 12, pp. 2133 - 2135
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7. Full Text Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
by van de Steeg, Evita and Stránecký, Viktor and Hartmannová, Hana and Nosková, Lenka and Hřebíček, Martin and Wagenaar, Els and van Esch, Anita and de Waart, Dirk R and Oude Elferink, Ronald P. J and Kenworthy, Kathryn E and Sticová, Eva and Al-Eeesi, Mohammad and Knisely, A. S and Kmoch, Stanislav and Jirsa, Milan and Schinkel, Alfred H
The Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 2, pp. 519 - 528
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Organic Anion Transporters, Sodium-Independent - genetics | Bilirubin - metabolism | Hyperbilirubinemia, Hereditary - genetics | Organic Anion Transporters, Sodium-Independent - deficiency | Humans | Liver - metabolism | Male | Hyperbilirubinemia, Hereditary - physiopathology | Mice, Knockout | Organic Anion Transporters - deficiency | Organic Anion Transporters - genetics | Animals | DNA Mutational Analysis | Pedigree | Hyperbilirubinemia, Hereditary - blood | Female | Mice | Bilirubin - analogs & derivatives | Solute Carrier Organic Anion Transporter Family Member 1b1 | Solute Carrier Organic Anion Transporter Family Member 1B3 | Care and treatment | Hyperbilirubinemia | Physiological aspects | Genetic aspects | Bilirubin | Research | Risk factors | Index Medicus | Abridged Index Medicus
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8. Full Text Adenylosuccinate lyase deficiency
by Jurecka, Agnieszka and Jurecka, Agnieszka and Zikanova, Marie and Zikanova, Marie and Kmoch, Stanislav and Kmoch, Stanislav and Tylki-Szymańska, Anna and Tylki-Szymańska, Anna
Journal of inherited metabolic disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 231 - 242
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Autistic Disorder - genetics | Predictive Value of Tests | Diagnosis, Differential | Genetic Predisposition to Disease | Genetic Testing | Prognosis | Humans | Risk Factors | Purine-Pyrimidine Metabolism, Inborn Errors - enzymology | Autistic Disorder - epidemiology | Disease Progression | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - therapy | Adenylosuccinate Lyase - deficiency | Phenotype | Animals | Autistic Disorder - enzymology | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Adenylosuccinate Lyase - genetics | Mutation | Autistic Disorder - diagnosis | Autistic Disorder - therapy | Purine-Pyrimidine Metabolism, Inborn Errors - epidemiology | Metabolites | Enzymes | Seizures (Medicine) | Index Medicus | Review
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9. Full Text The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
by Ng, Yi Shiau and Alston, Charlotte L and Diodato, Daria and Morris, Andrew A and Ulrick, Nicole and Kmoch, Stanislav and Houštěk, Josef and Martinelli, Diego and Haghighi, Alireza and Atiq, Mehnaz and Gamero, Montserrat Anton and Garcia-Martinez, Elena and Kratochvílová, Hana and Santra, Saikat and Brown, Ruth M and Brown, Garry K and Ragge, Nicola and Monavari, Ahmad and Pysden, Karen and Ravn, Kirstine and Casey, Jillian P and Khan, Arif and Chakrapani, Anupam and Vassallo, Grace and Simons, Cas and McKeever, Karl and O'Sullivan, Siobhan and Childs, Anne-Marie and Østergaard, Elsebet and Vanderver, Adeline and Goldstein, Amy and Vogt, Julie and Taylor, Robert W and McFarland, Robert
Journal of medical genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 768 - 775
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial diseases | Genetic aspects | Research | Mutation (Biology) | Risk factors | mitochondrial respiratory chain deficiencies | congenital sensorineural deafness | lactic acidosis | 1506 | Genotype-Phenotype Correlations | prognosis | renal disease
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10. Full Text Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
by Nosková, Lenka and Stránecký, Viktor and Hartmannová, Hana and Přistoupilová, Anna and Barešová, Veronika and Ivánek, Robert and Hůlková, Helena and Jahnová, Helena and van der Zee, Julie and Staropoli, John F and Sims, Katherine B and Tyynelä, Jaana and Van Broeckhoven, Christine and Nijssen, Peter C.G and Mole, Sara E and Elleder, Milan and Kmoch, Stanislav
American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Errors of metabolism | Medical genetics | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Neurons - pathology | Humans | Molecular Sequence Data | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Brain - metabolism | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Neurons - ultrastructure | Base Sequence | Brain - ultrastructure | Adult | Female | Neurons - metabolism | Genetic Linkage | Gene Dosage - genetics | HSP40 Heat-Shock Proteins - genetics | Lipoylation | Membrane Proteins - genetics | Gene Expression Regulation | Exons - genetics | Mutation - genetics | Sequence Analysis, DNA | Protein Transport | Lysosomes - ultrastructure | Pedigree | Age of Onset | Brain - pathology | Family | Genes, Dominant - genetics | Neuronal Ceroid-Lipofuscinoses - epidemiology | Chromosome Segregation - genetics | Neuronal ceroid-lipofuscinosis | Usage | Linkage (Genetics) | Analysis | Causes of | Genetic aspects | Diagnosis | Nucleotide sequencing | Gene expression | Proteins | Mutation | Tissues | Cells | Neurological disorders | Index Medicus | Neuroprotection | Deposits | Neurodegenerative diseases | Amino acids | Peptide mapping | Protein folding | Neuronal ceroid lipofuscinosis | Gene mapping | Protein interaction | Age | Linkage analysis
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11. Full Text NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
by Jedlickova, Ivana and Pristoupilova, Anna and Hulkova, Helena and Vrbacka, Alena and Stranecky, Viktor and Hruba, Eva and Jesina, Pavel and Honzik, Tomas and Hrdlicka, Ivan and Fremuth, Jiri and Pivovarcikova, Kristyna and Bitar, Ibrahim and Matej, Radoslav and Kmoch, Stanislav and Sikora, Jakub
Journal of neuropathology and experimental neurology, ISSN 0022-3069, 10/2020, Volume 79, Issue 10, pp. 1065 - 1071
Pathology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biopsy | Patients | Index Medicus
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12. Full Text Uromodulin Biology and Pathophysiology – An Update
by Vyletal, Petr and Bleyer, Anthony J and Kmoch, Stanislav
Kidney & blood pressure research, ISSN 1420-4096, 12/2010, Volume 33, Issue 6, pp. 456 - 475
Review | Urine | Hyperuricemia | Nephropathy | Tamm-Horsfall protein | Loop of Henle | UMOD | Determination | Uromodulin | Kidney | Physiology | Peripheral Vascular Disease | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Urology & Nephrology | Science & Technology | Kidney Diseases - physiopathology | Animals | Kidney Diseases - classification | Humans | Hyperuricemia - classification | Hyperuricemia - physiopathology | Hyperuricemia - metabolism | Mutation | Uromodulin - physiology | Kidney Diseases - metabolism | Index Medicus
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