Výsledky vyhledávání - Velibor Tasic
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Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder Autor Zoran Gucev, Velibor Tasić, Aleksandra Jančevska, Marina Krstevska Konstantinova, Nada Pop‐Jordanova, Zoran Trajkovski, Leslie G. Biesecker
Vydáno 2008Artigo -
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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis Autor Pawaree Saisawat, Velibor Tasić, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt
Vydáno 2011Artigo -
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Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion Autor Joaquim Calado, Yves Sznajer, Daniel L. Metzger, Ana Rita, Marie C. Hogan, Antonios Kattamis, M. Scharf, Velibor Tasić, Johann Greil, Florian Brinkert, Markus J. Kemper, René Santer
Vydáno 2008Artigo -
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Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract Autor Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Nataša Stajić, Radovan Bogdanović, Heiko Reutter, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt
Vydáno 2014Artigo -
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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract Autor Daw‐Yang Hwang, Gabriel C. Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C. Hilger, Heiko Reutter, Neveen A. Soliman, Radovan Bogdanović, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt
Vydáno 2014Artigo -
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Clinical, biochemical, and pathophysiological analysis of <i>SLC34A1</i> mutations Autor Amy Fearn, Benjamin Allison, Sarah J. Rice, Noel Edwards, Jan Halbritter, Soline Bourgeois, Eva M. Pastor‐Arroyo, Friedhelm Hildebrandt, Velibor Tasić, Carsten A. Wagner, Nati Hernando, John A. Sayer, Andreas Werner
Vydáno 2018Artigo -
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Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 Autor Duncan B. Sparrow, Aideen M. McInerney‐Leo, Zoran Gucev, Brooke Gardiner, Mhairi Marshall, Paul Leo, Deborah L. Chapman, Velibor Tasić, Abduhadi Shishko, Matthew A. Brown, Emma L. Duncan, Sally L. Dunwoodie
Vydáno 2013Artigo -
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Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract Autor Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie van der Ven, Ghaleb H. Daouk, Neveen A. Soliman, Aravind Selvin Kumar, Prabha Senguttuvan, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt
Vydáno 2016Artigo -
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Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis Autor Jan Halbritter, Michelle A. Baum, Ann Marie Hynes, Sarah J. Rice, David T. Thwaites, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jonathan D. Porath, Daniela A. Braun, Ari J. Wassner, Caleb P. Nelson, Velibor Tasić, John A. Sayer, Friedhelm Hildebrandt
Vydáno 2014Artigo -
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Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Autor Stefanie Weber, Linda Schneider, Melanie Peters, Joachim Misselwitz, Gabriele Rönnefarth, M. Böswald, Klaus E. Bonzel, Tomáš Seeman, Tereza Šuláková, Eberhard Kuwertz-Bröking, Alojz Gregorič, Jean‐Bernard Palcoux, Velibor Tasić, Friedrich Manz, K Schärer, Hannsjörg W. Seyberth, Martin Konrad
Vydáno 2001Artigo -
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CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Autor Martin Konrad, Jianghui Hou, Stefanie Weber, JoCombining Diaeresisrg DoCombining Diaeresistsch, Jameela A. Kari, Tomáš Seeman, Eberhard Kuwertz-BroCombining Diaeresisking, Amira Peco‐Antić, Velibor Tasić, Katalin Dittrich, Hammad O. Alshaya, Rodo O. von Vigier, Sabina Gallati, Daniel A. Goodenough, André Schaller
Vydáno 2007Artigo -
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Distal renal tubular acidosis: ERKNet/ESPN clinical practice points Autor Francesco Trepiccione, Steven Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepańska, Velibor Tasić, Rezan Topaloĝlu, Rosa Vargas‐Poussou, Tanja Wlodkowski, Detlef Böckenhauer
Vydáno 2021Artigo -
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Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis Autor Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer D. Varner, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Friedhelm Hildebrandt
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Medicine
Gene
Internal medicine
Kidney
Mutation
Phenotype
Endocrinology
Urinary system
Exome sequencing
Kidney disease
Nephrocalcinosis
Pediatrics
Pathology
Disease
Missense mutation
Embryonic stem cell
Gastroenterology
Kidney development
Locus (genetics)
Renal agenesis
Chemistry
Cohort
Copy-number variation
Genome
Immunology
Kidney stones
Nephrotic syndrome
Allele