Results 81 to 90 of about 4,241 (146)

Molecular Genetics of Nephronophthisis and Medullary Cystic Kidney Disease

, 2000
Friedhelm Hildebrandt, Edgar A. Otto
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A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

, 2000
Edgar A. Otto, Regina C. Betz, Christopher Rensing, Silvia Sch�tzle, Thomas Kuntzen, Thalia Vetsi, Anita Imm, Friedhelm Hildebrandt   +7 more
openalex   +1 more source

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

, 2000
Sophie Saunier, Joaquim Calado, France Benessy, Flora Silbermann, Roland Heilig, Jean Weissenbach, Corinne Antignac   +6 more
openalex   +1 more source

Human Adolescent Nephronophthisis

, 2001
Heymut Omran, Karsten HaCombining Diaeresisffner, Suse Burth, Carmen Fernández, Bernardo Fargier, Aminta Villaquiran, Hans Gerd Nothwang, Susanne Schnittger, Hans Lehrach, David Woo, M. Brandis, Ralf Sudbrak, Friedhelm Hildebrandt   +12 more
openalex   +1 more source

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability [PDF]

, 2014
Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Piétrement, Hülya Kayserili, Rémi Salomon, Marie-Claire Gübler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier   +25 more
openalex   +1 more source

Faculty Opinions recommendation of Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

, 2003
Sue Malcolm
openalex   +2 more sources

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis [PDF]

, 2017
Maxence S. Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne Elisabeth Christensen Mellgren, Sabine Leh, Albane A. Bizet, Daniela A. Braun, Heon Yung Gee, Flora Silbermann, C. Henry, Pauline Krug, Christine Bôle‐Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengız, Per M. Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J. Oakeley, Pierre Saint Mézard, Andreas W. Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah   +35 more
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Supplementary Material for: Upregulation of NADPH Oxidase 2 Contributes to Renal Fibrosis in pcy Mice: An Experimental Model of Nephronophthisis

, 2021
Yumi Hoshino, Hidenori Sonoda, Nobuyuki Mikoda, Masahiro Ikeda   +3 more
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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

, 2004
Melissa A. Parisi, Craig L. Bennett, Melissa Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis Shaw, Ruth McDonald, Allison A. Eddy, Phillip F. Chance, Ian Glass   +9 more
openalex   +1 more source

Nephronophthisis - A Genetic Cause of Ciliopathy [PDF]

, 2017
Sanjeev Kumar Jain
openalex   +1 more source