Florens Lohrmann, Angela Berg, Esther Wicker, Anita Imm, Gérard Krause, Katharina Zürn, Reinhard Berner, Markus Hufnagel, Fabian Lander,
For neonates, group B Streptococcus is life threatening. Current prevention strategies remain insufficient, especially for cases of late-onset sepsis, where intrapartum antibiotic prophylaxis has demonstrated no benefit. One promising approach is the vaccination of pregnant women, which offers protective immunity via transplacental transmission of neutralizing antibodies. Our nationwide, prospective surveillance ... Read more >>
Pediatr Infect Dis J (The Pediatric infectious disease journal)
[2021, 40(1):76-82]
Cited: 0 times
Julia Hoefele, Ahmet Nayir, Moumita Chaki, Anita Imm, Susan J Allen, Edgar A Otto, Friedhelm Hildebrandt,
Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPHP leads to end-stage renal failure (ESRD) in the first three decades of life and is the most frequent genetic cause of chronic renal failure in children and young adults. Extrarenal ... Read more >>
Pediatr Nephrol (Pediatric nephrology (Berlin, Germany))
[2011, 26(6):967-971]
Cited: 10 times
Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Reinhardt, Sven Klages, Motoyuki Tsuda, Isao Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S Williams, Anand Swaroop, Friedhelm Hildebrandt,
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4 (refs. 4-9) has linked the pathogenesis of NPHP to ciliary functions. Ten percent of affected individuals have retinitis pigmentosa, constituting the renal-retinal Senior-Loken syndrome (SLSN). Here we ... Read more >>
Nat Genet (Nature genetics)
[2005, 37(3):282-288]
Cited: 224 times
Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F O'Toole, Edgar Otto, Friedhelm Hildebrandt,
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as causative. Extrarenal manifestations are known, such as retinitis pigmentosa (Senior-Loken syndrome, SLS) and ocular motor ... Read more >>
Hum Mutat (Human mutation)
[2005, 25(4):411]
Cited: 34 times
Matthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, Rainer Ruf, Dominik Müller, Hans C Hennies, Stella Schwarz, Franziska Panther, Massimo Attanasio, Hilaria G Acosta, Anita Imm, Barbara Lucke, Boris Utsch, Edgar Otto, Peter Nurnberg, Victor Garcia Nieto, Friedhelm Hildebrandt,
<h4>Background</h4>Nephrolithiasis is a complex, multifactorial disease resulting from genetic and environmental interaction. The pathogenesis of nephrolithiasis is far from being understood. So far, no gene locus for autosomal dominant nephrolithiasis only has been described. We here identified a new suggestive gene locus for autosomal dominant nephrolithiasis by a genome-wide search ... Read more >>
Nephrol Dial Transplant (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association)
[2005, 20(5):909-914]
Cited: 9 times
Rainer G Ruf, Michael Schultheiss, Anne Lichtenberger, Stephanie M Karle, Isabella Zalewski, Bettina Mucha, Anne Schulze Everding, Thomas Neuhaus, Ludwig Patzer, Christian Plank, Johannes P Haas, Fatih Ozaltin, Anita Imm, Arno Fuchshuber, Aysin Bakkaloglu, Friedhelm Hildebrandt, ,
<h4>Background</h4>Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant nephrotic syndrome (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes for end-stage renal disease (ESRD) in the first two decades of life. Sporadic mutations in the Wilms' ... Read more >>
Kidney Int (Kidney international)
[2004, 66(2):564-570]
Cited: 74 times
Rainer G Ruf, Anne Lichtenberger, Stephanie M Karle, Johannes P Haas, Franzisco E Anacleto, Michael Schultheiss, Isabella Zalewski, Anita Imm, Eva-Maria Ruf, Bettina Mucha, Arvind Bagga, Thomas Neuhaus, Arno Fuchshuber, Aysin Bakkaloglu, Friedhelm Hildebrandt, ,
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes of ESRD in the first two decades of life. Mutations in the NPHS2 gene represent a frequent cause ... Read more >>
J Am Soc Nephrol (Journal of the American Society of Nephrology : JASN)
[2004, 15(3):722-732]
Cited: 222 times
Rainer G Ruf, Matthias T F Wolf, Hans C Hennies, Barbara Lucke, Christina Zinn, Verena Varnholt, Anne Lichtenberger, Andreas Pasch, Anita Imm, Sonia Briese, Thomas Lennert, Arno Fuchshuber, Peter Nurnberg, Friedhelm Hildebrandt,
Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS has opened the first insights into the understanding of its pathogenesis. This study reports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafness and ... Read more >>
J Am Soc Nephrol (Journal of the American Society of Nephrology : JASN)
[2003, 14(6):1519-1522]
Cited: 3 times