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1. 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
A third of patients with the DiGeorge syndrome have congenital kidney and urinary tract anomalies. This study provides evidence that haploinsufficiency of CRKL... 
MEDICINE, GENERAL & INTERNAL | MALFORMATIONS | URINARY-TRACT | DISEASE | MOUSE | CHROMOSOME 22Q11.2 DELETION | DISORDERS | TBX1 HAPLOINSUFFICIENCY | MUTATIONS | COPY-NUMBER VARIANT | MICE LACKING | 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 | Clonal deletion | Chromosome 22 | Thymic hypoplasia | Urogenital system | Chromosomes
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2. Full Text The copy number variation landscape of congenital anomalies of the kidney and urinary tract
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, 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 Drozdz, 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, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora 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, 01/2019, Volume 51, Issue 1, pp. 117 - 127
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number... 
DIGEORGE-SYNDROME | RARE VARIANTS | GENOMIC DISORDERS | CANDIDATE GENES | DISEASE | GENETICS & HEREDITY | BRANCHING MORPHOGENESIS | MUTATIONS | RENAL REPLACEMENT THERAPY | VITAMIN-A | DELETION | Chromosome Deletion | Vesico-Ureteral Reflux - genetics | Genetic Predisposition to Disease - genetics | Kidney - abnormalities | Humans | Female | Male | Urinary Tract - abnormalities | DNA Copy Number Variations - genetics | Genome-Wide Association Study - methods | Urogenital Abnormalities - genetics | 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
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3. Full Text Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens
by Kiryluk, Krzysztof and Li, Yifu and Scolari, Francesco and Sanna-Cherchi, Simone and Choi, Murim and Verbitsky, Miguel and Fasel, David and Lata, Sneh and Prakash, Sindhuri and Shapiro, Samantha and Fischman, Clara and Snyder, Holly J and Appel, Gerald and Izzi, Claudia and Viola, Battista Fabio and Dallera, Nadia and Del Vecchio, Lucia and Barlassina, Cristina and Salvi, Erika and Bertinetto, Francesca Eleonora and Amoroso, Antonio and Savoldi, Silvana and Rocchietti, Marcella and Amore, Alessandro and Peruzzi, Licia and Coppo, Rosanna and Salvadori, Maurizio and Ravani, Pietro and Magistroni, Riccardo and Ghiggeri, Gian Marco and Caridi, Gianluca and Bodria, Monica and Lugani, Francesca and Allegri, Landino and Delsante, Marco and Maiorana, Mariarosa and Magnano, Andrea and Frasca, Giovanni and Boer, Emanuela and Boscutti, Giuliano and Ponticelli, Claudio and Mignani, Renzo and Marcantoni, Carmelita and Di Landro, Domenico and Santoro, Domenico and Pani, Antonello and Polci, Rosaria and Feriozzi, Sandro and Chicca, Silvana and Galliani, Marco and Gigante, Maddalena and Gesualdo, Loreto and Zamboli, Pasquale and Battaglia, Giovanni Giorgio and Garozzo, Maurizio and Maixnerová, Dita and Tesar, Vladimir and Eitner, Frank and Rauen, Thomas and Floege, Jürgen and Kovacs, Tibor and Nagy, Judit and Mucha, Krzysztof and Pazek, Leszek and Zaniew, Marcin and Mizerska-Wasiak, Maa'Gorzata and Roszkowska-Blaim, Maria and Pawlaczyk, Krzysztof and Gale, Daniel and Barratt, Jonathan and Thibaudin, Lise and Berthoux, Francois and Canaud, Guillaume and Boland, Anne and Metzger, Marie and Panzer, Ulf and Suzuki, Hitoshi and Goto, Shin and Narita, Ichiei and Caliskan, Yasar and Xie, Jingyuan and Hou, Ping and Chen, Nan and Zhang, Hong and Wyatt, Robert J and Novak, Jan and Julian, Bruce A and Feehally, John and Stengel, Benedicte and Cusi, Daniele and Lifton, Richard P and Gharavi, Ali G
Nature Genetics, ISSN 1061-4036, 11/2014, Volume 46, Issue 11, pp. 1187 - 1196
We performed a genome-wide association study (GWAS) of IgA nephropathy (IgAN), the most common form of glomerulonephritis, with discovery and follow-up in... 
COMMON VARIANTS | VAV PROTEINS | INFLAMMATORY-BOWEL-DISEASE | CROHNS-DISEASE | DENDRITIC CELLS | ULCERATIVE-COLITIS | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | LEUKEMIA INHIBITORY FACTOR | KAPPA-B | GENOME-WIDE ASSOCIATION | Genome-Wide Association Study | Proto-Oncogene Proteins c-vav - genetics | HLA-D Antigens - genetics | Humans | Genetic Loci - genetics | Glomerulonephritis, IGA - genetics | Intestines - immunology | CARD Signaling Adaptor Proteins - genetics | CD11b Antigen - genetics | Host-Pathogen Interactions - genetics | Age of Onset | Intestines - parasitology | Polymorphism, Single Nucleotide - genetics | Genetic Pleiotropy - genetics | Immunity - genetics | Quantitative trait loci | Intestines | Genome-wide association studies | Pathogenic microorganisms | Physiological aspects | Genetic aspects | Kidney diseases | Health aspects | Identification and classification | Immunity | Studies | Genealogy | Biopsy | Genes | Genomes | Asian Americans | Chromosomes
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4. 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, Aleksandra 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 and Paediatrics (Lund) and Lund University and Lunds universitet and Pediatrik, Lund
Nephrology Dialysis Transplantation, ISSN 0931-0509, 01/2018, Volume 33, Issue 1, pp. 85 - 94
Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic... 
Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | chronic kidney disease | LOWE-SYNDROME | nephrocalcinosis | UROLOGY & NEPHROLOGY | SPECTRUM | DENT-DISEASE | TRANSPLANTATION | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
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5. 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
Hyperuricemia is a common symptom in adult population. It usually accompanies the chronic kidney disease. Less frequently, it is a primary phenomenon causing... 
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
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6. Full Text Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis
by Banushi, Blerida and Forneris, Federico and Straatman-Iwanowska, Anna and Strange, Adam and Lyne, Anne-Marie and Rogerson, Clare and Burden, Jemima J and Heywood, Wendy E and Hanley, Joanna and Doykov, Ivan and Straatman, Kornelis R and Smith, Holly and Bem, Danai and Kriston-Vizi, Janos and Ariceta, Gema and Risteli, Maija and Wang, Chunguang and Ardill, Rosalyn E and Zaniew, Marcin and Latka-Grot, Julita and Waddington, Simon N and Howe, S.J and Ferraro, Francesco and Gjinovci, Asllan and Lawrence, Scott and Marsh, Mark and Girolami, Mark and Bozec, Laurent and Mills, Kevin and Gissen, Paul
Nature Communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, p. 12111
Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and... 
RENAL DYSFUNCTION | RECRUITMENT | TETHERING COMPLEXES | MECHANISM | MULTIDISCIPLINARY SCIENCES | VPS33B | ENDOSOME | LYSYL HYDROXYLASE 3 | MUTATIONS | PROTEINS | EXTRACELLULAR-SPACE
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7. 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, ISSN 0931-041X, 6/2019, Volume 34, Issue 6, pp. 1065 - 1075
HNF1B gene mutations are an important cause of bilateral (cystic) dysplasia in children, complicated by chronic renal insufficiency. The clinical variability,... 
Pediatrics | Nephrology | MODY | Medicine & Public Health | Cystic kidney disease | HNF1B | GFR decline | Urology | Hypomagnesemia | LONG-TERM PROGNOSIS | KIDNEY-DISEASE | GENOTYPE/PHENOTYPE CORRELATIONS | 201 ADULT PATIENTS | CLINICAL SPECTRUM | HEPATOCYTE NUCLEAR FACTOR-1-BETA | CHILDREN | UROLOGY & NEPHROLOGY | PEDIATRICS | MUTATIONS | RENAL DYSPLASIA | GENE TCF2 | 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
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8. Full Text Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations
by Sikora, Przemysław and Zaniew, Marcin and Haisch, Lea and Pulcer, Barbara and Szczepańska, Maria and Moczulska, Anna and Rogowska-Kalisz, Anna and Bienias̈, Beata and Tkaczyk, Marcin and Ostalska-Nowicka, Danuta and Zachwieja, Katarzyna and Hyla-Klekot, Lidia and Schlingmann, Karl Peter and Konrad, Martin
Nephrology Dialysis Transplantation, ISSN 0931-0509, 04/2015, Volume 30, Issue 4, pp. 636 - 644
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder exhibiting a high risk for progressive... 
hypomagnesaemia | hypercalciuria | CLDN16 | nephrocalcinosis | FHHNC | PCLN-1 GENE | CHILDREN | HYDROCHLOROTHIAZIDE | TRANSPLANTATION | GLOMERULAR-FILTRATION-RATE | MAGNESIUM | PARACELLIN-1 | CALCIUM | UROLOGY & NEPHROLOGY | PARATHYROID-HORMONE | CHRONIC-RENAL-FAILURE | Claudins - genetics | Hypercalciuria - epidemiology | Prevalence | Humans | Nephrocalcinosis - epidemiology | Child, Preschool | Infant | Male | Renal Tubular Transport, Inborn Errors - genetics | Mutation - genetics | Poland - epidemiology | Young Adult | Homozygote | Renal Tubular Transport, Inborn Errors - epidemiology | Nephrocalcinosis - genetics | Adolescent | Adult | Female | Heterozygote | Hypercalciuria - genetics | Retrospective Studies | Child
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9. Full Text Interest of URS-L in the Treatment of Ureterolithiasis in Preschool Children
by Halinski, A and Zaniew, M and Kudlinski, B and Soltysiak, J and Sobolewski, B and Steyaert, H
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 09/2019, Volume 7
Urolithiasis can affect all children even preschool ones. Diagnostic difficulties in the youngest children are due to the problems in locating pain and... 
preschool children | ENDOUROLOGICAL MANAGEMENT | URETERAL STONE | ureterorenoscopy | laser | CALCULI | SHOCK-WAVE LITHOTRIPSY | stone disease | PEDIATRICS | DJ catheter | PEDIATRIC UROLITHIASIS | URETEROSCOPY
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10. Full Text Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, 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 Marasa, 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 Drozdz, 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, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simoes-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, 04/2019, Volume 51, Issue 4, pp. 764 - 764
In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal... 
Medical colleges | Genetic disorders | Urinary tract | Congenital defects | Copy number | Urogenital system | Congenital anomalies
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11. Full Text Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
by Burgmaier, Kathrin and Burgmaier, Mathias and Kunzmann, Kevin and Ariceta, Gema and Bergmann, Carsten and Buescher, Rainer and Buescher, Anja Katrin and Dursun, Ismail and Duzova, Ali and Eid, Loai and Erger, Florian and Feldkoetter, Markus and Galiano, Matthias and Geßner, Michaela and Goebel, Heike and Gokce, Ibrahim and Haffner, Dieter and Hooman, Nakysa and Hoppe, Bernd and Jankauskiene, Augustina and Klaus, Guenter and König, Jens and Litwin, Mieczyslaw and Massella, Laura and Mekahli, Djalila and Melek, Engin and Mir, Sevgi and Pape, Lars and Prikhodina, Larisa and Ranchin, Bruno and Schild, Raphael and Seeman, Tomas and Sever, Lale and Shroff, Rukshana and Soliman, Neveen A and Stabouli, Stella and Stanczyk, Malgorzata and Tabel, Yilmaz and Taranta-Janusz, Katarzyna and Testa, Sara and Thumfart, Julia and Topaloglu, Rezan and Weber, Lutz Thorsten and Wicher, Dorota and Wühl, Elke and Wygoda, Simone and Yilmaz, Alev and Zachwieja, Katarzyna and Zagozdzon, Ilona and Zerres, Klaus and Ranguelov, Nadejda and Godefroid, Nathalie and Collard, Laure and Lombet, Jacques and Maquet, Julie and Schalk, Gesa and Querfeld, Uwe and Beck, Bodo B and Benzing, Thomas and Buettner, Reinhard and Grundmann, Franziska and Kurschat, Christine and Benz, Marcus and Benz, Kerstin and Tzschoppe, Anja and Buchholz, Björn and Häffner, Karsten and Pohl, Martin and Gross, Oliver and Krügel, Jenny and Stock, Johanna and Patzer, Ludwig and Oh, Jun and Bernhardt, Wanja and Doyon, Anke and Vinke, Tobias and Sander, Anja and Henn, Michael and Derichs, Ute and Beetz, Rolf and Jeck, Nikola and Lange-Sperandio, Bärbel and Ponsel, Sabine and Kusser, Franziska and Uetz, Barbara and Schmidt, Silke and Huppertz-Kessler, Christina and Kranz, Birgitta and Titieni, Andrea and Wurm, Donald and Leichter, Heinz E and Bald, Martin and Billing, Heiko and Nabhan, Marwa M and Lara, Luis Enrique and Papachristou, Fotios and Emma, Francesco and Cerkauskiene, Rimante and Azukaitis, Karolis and Wasilewska, Anna and ... and ESCAPE Study Grp and ARegPKD Consortium and GPN Study Grp and ESCAPE Study Group and ARegPKD consortium and GPN Study Group
The Journal of Pediatrics, ISSN 0022-3476, 08/2018, Volume 199, pp. 22 - 28.e6
To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney... 
PKHD1 | renal replacement therapy | oligohydramnios | ciliopathy | ENCODES | ARPKD | PROTEIN | GENOTYPE-PHENOTYPE CORRELATIONS | GENETICS | PEDIATRICS | PKHD1 MUTATIONS | CLINICAL-EXPERIENCE | Prospective Studies | Follow-Up Studies | Risk Assessment | Humans | Risk Factors | Infant | Male | Polycystic Kidney, Autosomal Recessive - diagnosis | Pregnancy | Time Factors | Ultrasonography, Prenatal | Polycystic Kidney, Autosomal Recessive - therapy | Female | Retrospective Studies | Infant, Newborn | Renal Dialysis | Risk factors | Polycystic kidney disease
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