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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Boute, Nicolas, Gribouval, Olivier, Roselli, Séverine, Benessy, France, Lee, Hyunjoo, Fuchshuber, Arno, Dahan, Karin, Gubler, Marie-Claire, Niaudet, Patrick, Antignac, Corinne
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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Journal Article
Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome
Karle, Stephanie M., Uetz, Barbara, Ronner, Vera, Glaeser, Lisa, Hildebrandt, Friedhelm, Fuchshuber, Arno
Published in Journal of the American Society of Nephrology (01.02.2002)
Published in Journal of the American Society of Nephrology (01.02.2002)
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Journal Article
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
Wolf, Matthias T.F., Mucha, Bettina E., Attanasio, Massimo, Zalewski, Isabella, Karle, Stephanie M., Neumann, Hartmut P.H., Rahman, Nazneen, Bader, Birgit, Baldamus, Conrad A., Otto, Edgar, Witzgall, Ralph, Fuchshuber, Arno, Hildebrandt, Friedhelm
Published in Kidney international (01.11.2003)
Published in Kidney international (01.11.2003)
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Journal Article
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
Wolf, Matthias T. F., Mucha, Bettina E., Hennies, Hans C., Attanasio, Massimo, Panther, Franziska, Zalewski, Isabella, Karle, Stephanie M., Otto, Edgar A., Deltas, C. Constantinou, Fuchshuber, Arno, Hildebrandt, Friedhelm
Published in Human genetics (01.07.2006)
Published in Human genetics (01.07.2006)
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Journal Article
Telomeric refinement of the MCKD1 locuson chromosome 1q21
Wolf, Matthias T.F., Van Vlem, Bruno, Hennies, Hans C., Zalewski, Isabella, Karle, Stephanie M., Puetz, Markus, Panther, Franziska, Otto, Edgar, Fuchshuber, Arno, Lameire, Norbert, Loeys, Bart, Hildebrandt, Friedhelm
Published in Kidney international (01.08.2004)
Published in Kidney international (01.08.2004)
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Journal Article
Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome
Ruf, Rainer G., Lichtenberger, Anne, Karle, Stephanie M., Haas, Johannes P., Anacleto, Franzisco E., Schultheiss, Michael, Zalewski, Isabella, Imm, Anita, Ruf, Eva-Maria, Mucha, Bettina, Bagga, Arvind, Neuhaus, Thomas, Fuchshuber, Arno, Bakkaloglu, Aysin, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.03.2004)
Published in Journal of the American Society of Nephrology (01.03.2004)
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Journal Article
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B
Hildebrandt, Friedhelm, Nothwang, Hans Gerd, Vossmerbäumer, Urs, Springer, Cornelia, Strahm, Brigitte, Hoppe, Bernd, Keuth, Burkhard, Fuchshuber, Arno, Querfeld, Uwe, Neuhaus, Thomas J, Brandis, Matthias
Published in Pediatric nephrology (Berlin, West) (01.01.1998)
Published in Pediatric nephrology (Berlin, West) (01.01.1998)
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Journal Article
Conference Proceeding
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia
Deignan, Joshua L., De Deyn, Peter P., Cederbaum, Stephen D., Fuchshuber, Arno, Roth, Bernhard, Gsell, Wieland, Marescau, Bart
Published in Molecular genetics and metabolism (2010)
Published in Molecular genetics and metabolism (2010)
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Journal Article
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome
Ruf, Rainer G., Schultheiss, Michael, Lichtenberger, Anne, Karle, Stephanie M., Zalewski, Isabella, Mucha, Bettina, Everding, Anne Schulze, Neuhaus, Thomas, Patzer, Ludwig, Plank, Christian, Haas, Johannes P., Ozaltin, Fatih, Imm, Anita, Fuchshuber, Arno, Bakkaloglu, Aysin, Hildebrandt, Friedhelm
Published in Kidney international (01.08.2004)
Published in Kidney international (01.08.2004)
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Journal Article
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
Schultheiss, Michael, Ruf, Rainer G., Mucha, Bettina E., Wiggins, Roger, Fuchshuber, Arno, Lichtenberger, Anne, Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.12.2004)
Published in Pediatric nephrology (Berlin, West) (01.12.2004)
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Journal Article
Familial Juvenile Hyperuricemic Nephropathy and Autosomal Dominant Medullary Cystic Kidney Disease Type 2: Two Facets of the Same Disease?
DAHAN, KARIN, FUCHSHUBER, ARNO, ADAMIS, STAVROULA, SMAERS, MICHÈLE, KROISS, SABINE, LOUTE, GUY, COSYNS, JEAN-PIERRE, HILDEBRANDT, FRIEDHELM, VERELLEN-DUMOULIN, CHRISTINE, PIRSON, YVES
Published in Journal of the American Society of Nephrology (01.11.2001)
Published in Journal of the American Society of Nephrology (01.11.2001)
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Journal Article
Clinical and Genetic Evaluation of Familial Steroid-Responsive Nephrotic Syndrome in Childhood
FUCHSHUBER, ARNO, GRIBOUVAL, OLIVIER, RONNER, VERA, KROISS, SABINE, KARLE, STEPHANIE, BRANDIS, MATTHIAS, HILDEBRANDT, FRIEDHELM
Published in Journal of the American Society of Nephrology (01.02.2001)
Published in Journal of the American Society of Nephrology (01.02.2001)
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Journal Article
Identification of the First Gene Locus (SSNS1) for Steroid-Sensitive Nephrotic Syndrome on Chromosome 2p
Ruf, Rainer G., Fuchshuber, Arno, Karle, Stephanie M., Lemainque, Arnaud, Huck, Kirsten, Wienker, Thomas, Otto, Edgar, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.07.2003)
Published in Journal of the American Society of Nephrology (01.07.2003)
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Journal Article
Telomeric refinement of the MCKD1 locus on chromosome 1q21
WOLF, Matthias T. F, VAN VLEM, Bruno, LOEYS, Bart, HILDEBRANDT, Friedhelm, HENNIES, Hans C, ZALEWSKI, Isabella, KARLE, Stephanie M, PUETZ, Markus, PANTHER, Franziska, OTTO, Edgar, FUCHSHUBER, Arno, LAMEIRE, Norbert
Published in Kidney international (01.08.2004)
Published in Kidney international (01.08.2004)
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Journal Article
Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing
Wolf, Matthias T.F., Karle, Stephanie M., Schwarz, Stella, Anlauf, Mathias, Anlauf, Manfred, Glaeser, Lisa, Kroiss, Sabine, Burton, Chris, Feest, Terry, Otto, Edgar, Fuchshuber, Arno, Hildebrandt, Friedhelm
Published in Kidney international (01.09.2003)
Published in Kidney international (01.09.2003)
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Journal Article
Telomeric refinement of the MCKD1 locuson chromosome 1q21See Editorial by Bichet and Fujiwara, p. 864
Wolf, Matthias T.F., Van Vlem, Bruno, Hennies, Hans C., Zalewski, Isabella, Karle, Stephanie M., Puetz, Markus, Panther, Franziska, Otto, Edgar, Fuchshuber, Arno, Lameire, Norbert, Loeys, Bart, Hildebrandt, Friedhelm
Published in Kidney international (01.08.2004)
Published in Kidney international (01.08.2004)
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Journal Article
Telomeric refinement of the MCKD1 locuson chromosome 1q211
Wolf, Matthias T F, BRUNO VAN VLEM, Hennies, Hans C, Zalewski, Isabella, Karle, Stephanie M, Puetz, Markus, Panther, Franziska, Otto, Edgar, Fuchshuber, Arno, LAMEIRE, NORBERT, Loeys, Bart, Hildebrandt, Friedhelm
Published in Kidney international (01.08.2004)
Published in Kidney international (01.08.2004)
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Journal Article
Clinical and Genetic Features of Familial Nephrotic Syndromes
Fuchshuber, Arno, Gribouval, Olivier, Ronner, Vera, Antignac, Corinne, Hildebrandt, Friedhelm
Published in Pediatric research (01.04.1999)
Published in Pediatric research (01.04.1999)
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Journal Article
A Gene Locus for Steroid-Resistant Nephrotic Syndrome with Deafness Maps to Chromosome 14q24.2
Ruf, Rainer G., Wolf, Matthias T. F., Hennies, Hans C., Lucke, Barbara, Zinn, Christina, Varnholt, Verena, Lichtenberger, Anne, Pasch, Andreas, Imm, Anita, Briese, Sonia, Lennert, Thomas, Fuchshuber, Arno, Nurnberg, Peter, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.06.2003)
Published in Journal of the American Society of Nephrology (01.06.2003)
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Journal Article