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1. Full Text Clinical profile of a Polish cohort of children and young adults with cystinuria
by Tkaczyk, Marcin and Gadomska-Prokop, Katarzyna and Załuska-Leśniewska, Iga and Musiał, Kinga and Zawadzki, Jan and Jobs, Katarzyna and Porowski, Tadeusz and Rogowska-Kalisz, Anna and Jander, Anna and Kirolos, Merit and Haliński, Adam and Krzemień, Aleksandra and Sobieszczańska-Droździel, Aleksandra and Zachwieja, Katarzyna and Beck, Bodo B and Sikora, Przemysław and Zaniew, Marcin
Renal failure, ISSN 0886-022X, 01/2021, Volume 43, Issue 1, pp. 62 - 70
urolithiasis | treatment | cystinuria | Children | clinical profile | Index Medicus | children
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2. Full Text Hypomagnesemia is underestimated in children with HNF1B mutations
by Kolbuc, Marcin and Lessmeier, Lennart and Salamon-Slowinska, Dorota and Malecka, Ilona and Pawlaczyk, Krzysztof and Walkowiak, Jaroslaw and Wysocki, Jacek and Beck, Bodo B and Zaniew, Marcin
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 10/2020, Volume 35, Issue 10, pp. 1877 - 1886
Pediatrics | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Complications and side effects | Demographic aspects | Genetic aspects | Children | Diagnosis | Kidney diseases | Liver cells | Health aspects | Magnesium deficiency diseases | Risk factors | Diseases | Index Medicus
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3. Full Text The copy number variation landscape of congenital anomalies of the kidney and urinary tract
by Verbitsky, Miguel and Westland, Rik and Perez, Alejana and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Boia, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasà, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and zdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, C. cile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, D. bora M and Oliveira, Eduardo A and Simões-e-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature genetics, ISSN 1061-4036, 2019, Volume 51, Issue 1, pp. 117 - 127
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Birth defects | Kidneys | Research | Copy number variations | Health aspects | Urinary organs | Enrichment | Congenital diseases | Congenital defects | Copy number | Genes | Genomes | Urinary tract | Chromosome 4 | Loci | Chromosome 1 | Autism | Pleiotropy | Congenital anomalies | Failure analysis | Renal failure | Population | Genetic engineering | Mutation | Urogenital system | Chromosome 16 | Index Medicus
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4. Full Text Whole-exome sequencing in adults with chronic kidney disease: A pilot study
by Lata, Sneh and Marasa, Maddalena and Li, Yifu and Fasel, David A and Groopman, Emily and Jobanputra, Vaidehi and Rasouly, Hila and Mitrotti, Adele and Westland, Rik and Verbitsky, Miguel and Nestor, Jorda and Slater, Lindsey M and D'Agati, Vivette and Zaniew, Marcin and Materna-Kiryluk, Anna and Lugani, Francesca and Caridi, Gianluca and Rampoldi, Luca and Mattoo, Aditya and Newton, Chad A and Rao, Maya K and Radhakrishnan, Jai and Ahn, Wooin and Canetta, Pietro A and Bomback, Andrew S and Appel, Gerald B and Antignac, Corinne and Markowitz, Glen S and Garcia, Christine K and Kiryluk, Krzysztof and Sanna-Cherchi, Simone and Gharavi, Ali G
Annals of internal medicine, ISSN 0003-4819, 01/2018, Volume 168, Issue 2, pp. 100 - 109
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | New York City | Exome - genetics | Genetic Predisposition to Disease | Humans | Middle Aged | Renal Insufficiency, Chronic - genetics | Adult | Female | Male | Mutation | Sequence Analysis, DNA - methods | Usage | Gene mutations | Chronic kidney failure | Exome sequencing | Genetic aspects | Research | Diagnosis | Adults | Kidney diseases | Disease management | Medical diagnosis | Index Medicus | Abridged Index Medicus
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5. Full Text Long-term renal outcome in children with OCRL mutations: Retrospective analysis of a large international cohort
by Zaniew, Marcin and Bökenkamp, Arend and Kołbuc, Marcin and la Scola, Claudio and Baronio, Federico and Niemirska, Anna and Szczepańska, Maria and Bürger, Julia and la Manna, Angela and Miklaszewska, Monika and Rogowska-Kalisz, Anna and Gellermann, Jutta and Zampetoglou, Argyroula and Wasilewska, Anna and Roszak, Magdalena and Moczko, Jerzy and Krzemień, Aleksana and Runowski, Dariusz and Siteń, Grzegorz and Załuska-Leśniewska, Iga and Fonduli, Patrizia and Zurrida, Franca and Paglialonga, Fabio and Gucev, Zoran and Paripovic, Dusan and Rus, Rina and Said-Conti, Valerie and Sartz, Lisa and Chung, Woo Yeong and Park, Se Jin and Lee, Jung Won and Park, Yong Hoon and Ahn, Yo Han and Sikora, Przemysław and Stefanidis, Constantinos J and Tasic, Velibor and Konrad, Martin and Anglani, Franca and Addis, Maria and Cheong, Hae Il and Ludwig, Michael and Bockenhauer, Detlef
Nephrology, dialysis, transplantation, ISSN 0931-0509, 2018, Volume 33, Issue 1, pp. 85 - 94
d_article_not_yet_freely_accessible | Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
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6. Full Text Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
by Sanna-Cherchi, Simone and Kiryluk, Krzysztof and Burgess, Katelyn E and Bodria, Monica and Sampson, Matthew G and Hadley, Dexter and Nees, Shannon N and Verbitsky, Miguel and Perry, Brittany J and Sterken, Roel and Lozanovski, Vladimir J and Materna-Kiryluk, Anna and Barlassina, Cristina and Kini, Akshata and Corbani, Valentina and Carrea, Alba and Somenzi, Danio and Murtas, Corrado and Ristoska-Bojkovska, Nadica and Izzi, Claudia and Bianco, Beatrice and Zaniew, Marcin and Flogelova, Hana and Weng, Patricia L and Kacak, Nilgun and Giberti, Stefania and Gigante, Maddalena and Arapovic, Adela and Drnasin, Kristina and Caridi, Gianluca and Curioni, Simona and Allegri, Franca and Ammenti, Anita and Ferretti, Stefania and Goj, Vinicio and Bernardo, Luca and Jobanputra, Vaidehi and Chung, Wendy K and Lifton, Richard P and Sanders, Stephan and State, Matthew and Clark, Lorraine N and Saraga, Marijan and Padmanabhan, Sandosh and Dominiczak, Anna F and Foroud, Tatiana and Gesualdo, Loreto and Gucev, Zoran and Allegri, Landino and Latos-Bielenska, Anna and Cusi, Daniele and Scolari, Francesco and Tasic, Velibor and Hakonarson, Hakon and Ghiggeri, Gian Marco and Gharavi, Ali G
American journal of human genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 987 - 997
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Genetic Association Studies | Kidney Diseases - congenital | Humans | Molecular Sequence Annotation | Chromosome Aberrations | Genotype | Case-Control Studies | Kidney Diseases - genetics | DNA Copy Number Variations | Renal manifestations of general diseases | Causes of | Research | Copy number variations | Genetic variation | Genetic disorders | Congenital diseases | Kidneys | Kidney diseases | Medical diagnosis | Index Medicus
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7. Full Text Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England journal of medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Medicine(all) | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Chromosome Deletion | Humans | Infant | Male | Urinary Tract - abnormalities | Zebrafish | Sequence Analysis, DNA | Haploinsufficiency | Exome | Young Adult | Animals | Kidney - abnormalities | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Female | Heterozygote | Models, Animal | Chromosomes, Human, Pair 22 | Mice | Nuclear Proteins - genetics | Child | DiGeorge Syndrome - genetics | Infant, Newborn | Genetics | Care and treatment | Diagnosis | Kidney diseases | Research | DiGeorge syndrome | Phenotypes | Kidneys | Nonsense mutation | Nervous system | Urinary tract | Gene deletion | Embryos | Defects | Chromosome 22 | Thymic hypoplasia | Urogenital system | Chromosomes | Index Medicus | Abridged Index Medicus | Life Sciences
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8. Full Text P0172ARE FREQUENT STONE REMOVAL PROCEDURES IN PATIENTS WITH PRIMARY HYPEROXALURIA TYPE 3 (PH 3) RELATED TO DECLINE IN KIDNEY FUNCTION?
by Hoppe, Bernd and Martin Higueras, Cristina and Beck, Bodo B and Zaniew, Marcin and Sikora, Przemyslaw
Nephrology, dialysis, transplantation, ISSN 0931-0509, 06/2020, Volume 35, Issue Supplement_3
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9. Full Text Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families
by Kaminska-Pajak, Kamila A and Dyga, Katarzyna and Adamczyk, Piotr and Szczepańska, Maria and Zaniew, Marcin and Beck, Bodo and Tkaczyk, Marcin
Renal failure, ISSN 0886-022X, 11/2016, Volume 38, Issue 10, pp. 1759 - 1762
uromodulin | Hyperuricemia | familial juvenile hyperuricemic nephropathy | children | Humans | Child, Preschool | Male | Mutation, Missense | Kidney Diseases - genetics | Young Adult | Hyperuricemia - genetics | Gout - therapy | DNA Mutational Analysis | Pedigree | Adolescent | Renal Insufficiency, Chronic - genetics | Kidney Diseases - therapy | Poland | Adult | Female | Gout - genetics | Uric Acid - blood | Hyperuricemia - therapy | Child | Uromodulin - genetics | Renal Dialysis | Index Medicus
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10. Full Text HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry
by Okorn, Christine and Goertz, Anne and Vester, Udo and Beck, Bodo B and Bergmann, Carsten and Habbig, Sandra and König, Jens and Konrad, Martin and Müller, Dominik and Oh, Jun and Ortiz-Brüchle, Nadina and Patzer, Ludwig and Schild, Raphael and Seeman, Tomas and Staude, Hagen and Thumfart, Julia and Tönshoff, Burkhard and Walden, Ulrike and Weber, Lutz and Zaniew, Marcin and Zappel, Hildegard and Hoyer, Peter F and Weber, Stefanie
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 6/2019, Volume 34, Issue 6, pp. 1065 - 1075
Pediatrics | Nephrology | MODY | Medicine & Public Health | Cystic kidney disease | HNF1B | GFR decline | Urology | Hypomagnesemia | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Polycystic Kidney Diseases - genetics | Genetic Association Studies | Humans | Child, Preschool | Infant | Male | Disease Progression | Kidney Failure, Chronic - genetics | Phenotype | Polycystic Kidney Diseases - pathology | Polycystic Kidney Diseases - physiopathology | Adolescent | Age of Onset | Female | Registries | Child | Germany | Hepatocyte Nuclear Factor 1-beta - genetics | Infant, Newborn | Development and progression | Genetic aspects | Children | Research | Pediatric research | Diseases | Phenotypes | Dysplasia | Liver | Heredity | Glomerular filtration rate | Genotype & phenotype | Renal insufficiency | Hyperglycemia | Hyperuricemia | Nephropathy | Cysts | Maternal inheritance | Genetic analysis | Genotypes | Index Medicus
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