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1. Full Text Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
by Kirby, Andrew and Gnirke, Andreas and Jaffe, David B and Barešová, Veronika and Pochet, Nathalie and Blumenstiel, Brendan and Ye, Chun and Aird, Daniel and Stevens, Christine and Robinson, James T and Cabili, Moran N and Gat-Viks, Irit and Kelliher, Edward and Daza, Riza and Defelice, Matthew and Hůlková, Helena and Sovová, Jana and Vylet'al, Petr and Antignac, Corinne and Guttman, Mitchell and Handsaker, Robert E and Perrin, Danielle and Steelman, Scott and Sigurdsson, Snaevar and Scheinman, Steven J and Sougnez, Carrie and Cibulskis, Kristian and Parkin, Melissa and Green, Todd and Rossin, Elizabeth and Zody, Michael C and Xavier, Ramnik J and Pollak, Martin R and Alper, Seth L and Lindblad-Toh, Kerstin and Gabriel, Stacey and Hart, P. Suzanne and Regev, Aviv and Nusbaum, Chad and Kmoch, Stanislav and Bleyer, Anthony J and Lander, Eric S and Daly, Mark J
Nature genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 299 - 303
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Mucin-1 - metabolism | Humans | Polycystic Kidney, Autosomal Dominant - pathology | Male | Polycystic Kidney, Autosomal Dominant - genetics | Cytosine - metabolism | Minisatellite Repeats - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Genetic Linkage | Mucin-1 - genetics | Gene mutations | Genomics | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Polycystic kidney disease | DNA sequencing | Proteins | Genetics | Genes | Index Medicus
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2. Full Text A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
by Bullich, Gemma and Domingo-Gallego, Andrea and Vargas, Iván and Ruiz, Patricia and Lorente-Grandoso, Laura and Furlano, Mónica and Fraga, Gloria and Madrid, Álvaro and Ariceta, Gema and Borregán, Mar and Piñero-Fernández, Juan Alberto and Rodríguez-Peña, Lidia and Ballesta-Martínez, Maria Juliana and Llano-Rivas, Isabel and Meñica, Mireia Aguirre and Ballarín, José and Torrents, David and Torra, Roser and Ars, Elisabet
Kidney international, ISSN 0085-2538, 08/2018, Volume 94, Issue 2, pp. 363 - 371
glomerulopathies | autosomal dominant polycystic kidney disease | targeted next-generation sequencing | ciliopathies | inherited kidney diseases | genetic testing | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | High-Throughput Nucleotide Sequencing - economics | DNA Mutational Analysis - economics | Nephritis, Hereditary - pathology | Prevalence | Kidney - pathology | Humans | Middle Aged | Polycystic Kidney, Autosomal Dominant - pathology | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Genetic Testing - methods | Feasibility Studies | Young Adult | Polycystic Kidney, Autosomal Dominant - genetics | Prenatal Diagnosis - economics | Adult | Female | High-Throughput Nucleotide Sequencing - methods | Child | Infant, Newborn | Polycystic Kidney, Autosomal Dominant - epidemiology | Nephritis, Hereditary - genetics | Nephritis, Hereditary - epidemiology | Nephritis, Hereditary - diagnosis | Pregnancy | Phenotype | Polycystic Kidney, Autosomal Dominant - diagnosis | Cost-Benefit Analysis | Adolescent | Age of Onset | Aged | Genetic Testing - economics | Mutation | Prenatal Diagnosis - methods | Cohort Studies | Index Medicus
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3. Full Text Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum
by Palsgrove, Doreen N and Li, Yunjie and Pratilas, Christine A and Lin, Ming-Tseh and Pallavajjalla, Aparna and Gocke, Christopher and De Marzo, Angelo M and Matoso, Andres and Netto, George J and Epstein, Jonathan I and Argani, Pedram
The American journal of surgical pathology, ISSN 0147-5185, 09/2018, Volume 42, Issue 9, pp. 1166 - 1181
Eosinophilic solid and cystic RCC | Renal cell carcinoma | TSC | Pediatric | Pathology | Life Sciences & Biomedicine | Surgery | Science & Technology | Kidney Neoplasms - genetics | Carcinoma, Renal Cell - pathology | Humans | Middle Aged | Carcinoma, Renal Cell - genetics | Male | Tuberous Sclerosis Complex 1 Protein - genetics | Tuberous Sclerosis Complex 2 Protein - genetics | Eosinophilia - pathology | Young Adult | Adolescent | Adult | Female | Kidney Neoplasms - pathology | Aged | Biomarkers, Tumor - genetics | Mutation | Kidney, Cystic | Gene mutations | Genetic research | Genetic aspects | Research | Carcinoma, Renal cell | Clinical pathology | Eosinophils | Index Medicus | renal cell carcinoma | eosinophilic solid and cystic RCC | pediatric
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4. Full Text Acquired Cystic Kidney Disease–associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes
by Shah, Abhishek and Lal, Priti and Toorens, Erik and Palmer, Matthew B and Schwartz, Lauren and Vergara, Norge and Guzzo, Thomas and Nayak, Anupma
The American journal of surgical pathology, ISSN 0147-5185, 11/2020, Volume 44, Issue 11, pp. 1479 - 1486
Kidney Neoplasms - genetics | Humans | Middle Aged | Carcinoma, Renal Cell - genetics | Male | DNA-Binding Proteins - genetics | Tuberous Sclerosis Complex 2 Protein - genetics | Aged, 80 and over | Kidney Diseases, Cystic - genetics | Adult | Female | Aged | Mutation | Kidney Failure, Chronic - etiology | Development and progression | Genetic aspects | Carcinoma, Renal cell | Chronic kidney failure | Genes | Analysis | Index Medicus
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5. Full Text Germline DICER1 mutations and familial cystic nephroma
by Bahubeshi, Amin and Bal, Nebil and Rio Frio, Thomas and Hamel, Nancy and Pouchet, Carly and Yilmaz, Ahmet and Bouron-Dal Soglio, Dorothée and Williams, Gretchen M and Tischkowitz, Marc and Priest, John R and Foulkes, William D
Journal of medical genetics, ISSN 0022-2593, 12/2010, Volume 47, Issue 12, pp. 863 - 866
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Kidney Neoplasms - genetics | Ribonuclease III - genetics | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Infant | Male | Germ-Line Mutation - genetics | Kidney Diseases, Cystic - pathology | Young Adult | DEAD-box RNA Helicases - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Adolescent | Kidney Diseases, Cystic - genetics | Adult | Family | Female | Kidney Diseases, Cystic - complications | Kidney Neoplasms - pathology | Kidney Neoplasms - complications | Child | Development and progression | Genetic aspects | Research | Gene mutations | Kidney cancer | Index Medicus
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6. Full Text Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
by Gee, Heon Yung and Otto, Edgar A and Hurd, Toby W and Ashraf, Shazia and Chaki, Moumita and Cluckey, Andrew and Vega-Warner, Virginia and Saisawat, Pawaree and Diaz, Katrina A and Fang, Humphrey and Kohl, Stefan and Allen, Susan J and Airik, Rannar and Zhou, Weibin and Ramaswami, Gokul and Janssen, Sabine and Fu, Clementine and Innis, Jamie L and Weber, Stefanie and Vester, Udo and Davis, Erica E and Katsanis, Nicholas and Fathy, Hanan M and Jeck, Nikola and Klaus, Gunther and Nayir, Ahmet and Rahim, Khawla A and Attrach, Ibrahim Al and Hassoun, Ibrahim Al and Ozturk, Savas and Drozdz, Dorota and Helmchen, Udo and O'Toole, John F and Attanasio, Massimo and Lewis, Richard A and Nürnberg, Gudrun and Nürnberg, Peter and Washburn, Joseph and MacDonald, James and Innis, Jeffrey W and Levy, Shawn and Hildebrandt, Friedhelm
Kidney international, ISSN 0085-2538, 04/2014, Volume 85, Issue 4, pp. 880 - 887
molecular genetics | human genetics | diagnosis | cystic kidney | genetic renal disease | Cystic kidney | Diagnosis | Molecular genetics | Genetic renal disease | Human genetics | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Kidney Diseases, Cystic - diagnosis | Humans | Infant | Male | Genes, Recessive | Genetic Testing - methods | Exome | Young Adult | Phenotype | DNA Mutational Analysis | Adolescent | Kidney Diseases, Cystic - genetics | Adult | Mutation | Early Diagnosis | Index Medicus
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7. Full Text Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
by Hart, T C and Gorry, M C and Hart, P S and Woodard, A S and Shihabi, Z and Sandhu, J and Shirts, B and Xu, L and Zhu, H and Barmada, M M and Bleyer, A J
Journal of medical genetics, ISSN 0022-2593, 12/2002, Volume 39, Issue 12, pp. 882 - 892
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nephrology. Urinary tract diseases | Biological and medical sciences | Kidneys | Medical sciences | Malformations of the urinary system | Gout - physiopathology | Humans | Child, Preschool | Male | Uromodulin | Lod Score | Haplotypes - genetics | Renal Insufficiency - physiopathology | Polycystic Kidney, Autosomal Dominant - genetics | DNA Mutational Analysis | Base Sequence | Female | Chromosomes, Human, Pair 16 - genetics | Mucoproteins - genetics | Renal Insufficiency - genetics | Physical Chromosome Mapping | Exons - genetics | Hyperuricemia - physiopathology | Chromosome Mapping | Mutation - genetics | Hyperuricemia - genetics | Phenotype | Pedigree | Genetic Markers - genetics | Alleles | Gout - genetics | Polycystic Kidney, Autosomal Dominant - physiopathology | Hyperuricemia | Genetic aspects | Kidney, Cystic | Familial diseases | Proteins | Urine | Cytokines | Cysts | Biopsy | Genes | Rodents | Mutation | Kidney diseases | Uric acid | Localization | Index Medicus | Original
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8. Full Text Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease
by Hester, Ian and Eremina, Vera and McNeill, Helen and Saburi, Sakura and Fischer, Evelyne and Quaggin, Sue E and Pontoglio, Marco and Gessler, Manfred and Mount, Richard and Harrison, Robert
Nature genetics, ISSN 1061-4036, 08/2008, Volume 40, Issue 8, pp. 1010 - 1015
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Cell cycle, cell proliferation | Cell Polarity | Kidney Diseases, Cystic - metabolism | Animals | Cadherins - metabolism | Kidney - embryology | Embryo, Mammalian - cytology | Gene Expression Regulation, Developmental | Cell Division | Mice | Cadherins - genetics | Drosophila melanogaster | Embryo, Mammalian - metabolism | Control | Kidney, Cystic | Cell division | Physiological aspects | Cellular signal transduction | Genetic aspects | Research | Hair | Medical research | Scanning electron microscopy | Genotype & phenotype | Insects | Software | Tissues | Apoptosis | Index Medicus
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9. Full Text DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma
by Doros, Leslie A and Rossi, Christopher T and Yang, Jiandong and Field, Amanda and Williams, Gretchen M and Messinger, Yoav and Cajaiba, Mariana M and Perlman, Elizabeth J and A Schultz, Kris and Cathro, Helen P and Legallo, Robin D and LaFortune, Kristin A and Chikwava, Kudakwashe R and Faria, Paulo and Geller, James I and Dome, Jeffrey S and Mullen, Elizabeth A and Gratias, Eric J and Dehner, Louis P and Hill, D Ashley
Modern pathology, ISSN 0893-3952, 09/2014, Volume 27, Issue 9, pp. 1267 - 1280
Embryonal rhabdomyosarcoma | Wilms tumor | Pleuropulmonary blastoma | Renal sarcoma | DICER1 | Cystic nephroma | Renal cysts | Life Sciences & Biomedicine | Pathology | Science & Technology | Immunohistochemistry | Polycystic Kidney Diseases - genetics | Kidney Neoplasms - genetics | Wilms Tumor - genetics | Humans | Child, Preschool | Infant | Male | Kidney Neoplasms - metabolism | Mutation, Missense | Young Adult | Polycystic Kidney Diseases - pathology | Biomarkers, Tumor - metabolism | Female | Neoplasms, Second Primary - genetics | Sarcoma - genetics | Wilms Tumor - metabolism | Child | Polycystic Kidney Diseases - metabolism | Ribonuclease III - genetics | Sarcoma - pathology | Wilms Tumor - pathology | Sarcoma - metabolism | DEAD-box RNA Helicases - genetics | Neoplasms, Second Primary - metabolism | Adolescent | Kidney Neoplasms - pathology | Neoplasms, Second Primary - pathology | Index Medicus | cystic nephroma | renal cysts | pleuropulmonary blastoma | Original | embryonal rhabdomyosarcoma | renal sarcoma
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10. Perinatal diagnosis, management, and follow-up of cystic renal diseases a clinical practice recommendation with systematic literature reviews
by Gimpel, Charlotte and Avni, Fred E and Bergmann, Carsten and Cetiner, Metin and Habbig, Sandra and Haffner, Dieter and König, Jens and Konrad, Martin and Liebau, Max C and Pape, Lars and Rellensmann, Georg and Titieni, Andrea and Von Kaisenberg, Constantin and Weber, Stefanie and Winyard, Paul J. D and Schaefer, Franz
JAMA pediatrics, ISSN 2168-6203, 01/2018, Volume 172, Issue 1, pp. 74 - 86
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Kidney Diseases, Cystic - diagnosis | Prenatal Care - methods | Prognosis | Follow-Up Studies | Humans | Renal Replacement Therapy - methods | Genetic Testing - methods | Counseling | Kidney Diseases, Cystic - genetics | Kidney Diseases, Cystic - therapy | Ultrasonography, Prenatal - methods | Postnatal Care - methods | Prenatal Diagnosis - methods
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