Genetic and physical interaction between the NPHP5 and NPHP6 gene products (2009)
Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, ...
Genetic and physical interaction between the NPHP5 and NPHP6 gene products (2008)
Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, ...
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease, caused by mutations of at least nine different genes. Several extrarenal manifestations characterize this disorder, including...
Otto, Edgar A., Sayer, John A., Utsch, Boris, Eccles, Michael, Pereira, Rob Rodrigues, Attanasio, Massimo, ...
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the...
Retinitis pigmentosa and renal failure in a patient with mutations in INVS (2006)
O'Toole, John F., Otto, Edgar A., Frishberg, Yaacov, Hildebrandt, Friedhelm
Background. Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by...
Retinitis pigmentosa and renal failure in a patient with mutations in INVS (2006)
O'Toole, John F., Otto, Edgar A., Frishberg, Yaacov, Hildebrandt, Friedhelm
Background. Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by...
Chang, Bo, Khanna, Hemant, Hawes, Norman, Jimeno, David, He, Shirley, Lillo, Concepcion, ...
Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional candidate...
Retinitis pigmentosa and renal failure in a patient with mutations in INVS (2006)
O'Toole, John F., Otto, Edgar A., Frishberg, Yaacov, Hildebrandt, Friedhelm
Background. Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by...
Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Lehrack, Silvia, Hennig, Steffen, Imm, Anita, ...
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)...
Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...
Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
Ruf, Rainer G., Xu, Pin-Xian, Silvius, Derek, Otto, Edgar A., Beekmann, Frank, Muerb, Ulla T., ...
Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder...
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
Ruf, Rainer G., Xu, Pin-Xian, Silvius, Derek, Otto, Edgar A., Beekmann, Frank, Muerb, Ulla T., ...
Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder...
Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome
Hoskins, Bethan E., Cramer, Carl H., Silvius, Derek, Zou, Dan, Raymond, Richard M., Orten, Dana J., ...
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and renal anomalies. Mutations in EYA1 are...
Otto, Edgar A., Helou, Juliana, Allen, Susan J., O'Toole, John F., Wise, Eric L., Ashraf, Shazia, ...
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first three decades of life. Mutations in eight genes ( NPHP1–8 )...
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
Hildebrandt, Friedhelm, Heeringa, Saskia F., Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, ...
The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity...
NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis
Otto, Edgar A., Trapp, Melissa L., Schultheiss, Ulla T., Helou, Juliana, Quarmby, Lynne M., Hildebrandt, Friedhelm
Nephronophthisis, an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes (NPHP1–8) have...
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., ...
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia,...
Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., ...
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive...