Results 71 to 80 of about 4,241 (146)

Prostaglandin E₁ as therapeutic molecule for Nephronophthisis and related ciliopathies [PDF]

, 2022
Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Clémentine Mahaut, Amandine Viau, Katy Billot, Éléonore Birgy, Meriem Garfa‐Traoré, Stéphanie Roy, Salomé Cecarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot‐Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean‐Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier   +28 more
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Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

Heliyon
The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and ...
Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo   +7 more
doaj   +1 more source

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome [PDF]

, 2005
Boris Utsch, John A. Sayer, Massimo Attanasio, Rob Rodrigues Pereira, Michael R. Eccles, Hans-Christian Hennies, Edgar A. Otto, Friedhelm Hildebrandt   +7 more
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Nephronophthisis [PDF]

, 2008
Roslyn Simms, Lorraine Eley, John A. Sayer   +2 more
openalex   +1 more source

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) [PDF]

, 2009
Edgar A. Otto, Kálmán Tory, Massimo Attanasio, Weibin Zhou, Moumita Chaki, Yasaswi Paruchuri, Eric L. Wise, M T F Wolf, Boris Utsch, C. Becker, Gudrun Nürnberg, Peter Nürnberg, Ahmet Nayır, Sophie Saunier, Corinne Antignac, Friedhelm Hildebrandt   +15 more
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MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]

, 2009
Meral Gunay‐Aygun, Melissa A. Parisi, Dan Doherty, M. Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Barış Türkbey, Peter L. Choyke, Lisa M. Guay‐Woodford, Theo Heller, Katarzyna Szymańska, Colin A. Johnson, Ian Glass, William A. Gahl   +14 more
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Nephritic-nephrotic syndrome as a presentation of BK virus infection

Saudi Journal of Kidney Diseases and Transplantation, 2011
BK virus (BKV) is increasingly found as an important cause of allograft nephro-pathy. Nephrotic syndrome is not a usual manifestation of BKV nephropathy.
Nima Derakhshan, Dorna Derakhshan, Simin Torabinejad, Ali Derakhshan   +3 more
doaj  

Nephronophthisis [PDF]

, 2010
Matthias T. F. Wolf, Friedhelm Hildebrandt   +1 more
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End-stage juvenile nephronophthisis on MRI [PDF]

, 2010
Samuel Stafrace, Jawad Khan
openalex   +1 more source

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

, 2000
Heymut Omran, Carmen Fernández, Martin Jung, Karsten Häffner, Bernardo Fargier, Aminta Villaquiran, Rüdiger Waldherr, Norbert Gretz, M. Brandis, Franz Rüschendorf, André Reis, Friedhelm Hildebrandt   +11 more
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