Results 131 to 140 of about 8,333 (256)

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Kidney International, 2023
Friederike Petzold, K. Billot, Xiaoyi Chen, Charline Henry, E. Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, V. Moriniére, P. Krug, C. Jeanpierre, K. Tory, O. Boyer, A. Burgun, A. Servais, R. Salomon, A. Benmerah, L. Heidet, Nicolas Garcelon, C. Antignac, M. Zaidan, S. Saunier   +21 more
semanticscholar   +1 more source

Radiological features of Joubert syndrome and clinical case presentation

Radiology Case Reports
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD, Bruno Flores Escobar, MD, Julian Guzman Martinez, MD, Ricardo Alfonso Barrera Martínez, MD, Frida Priscila Hernández Cortez, MD   +4 more
doaj   +1 more source

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis [PDF]

, 1996
Martin Konrad
openalex   +1 more source

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  

A Case of Juvenile Nephronophthisis Presenting Severe Short Stature

, 1995
Atsuko Yoshizawa, Susumu Yokoya, Takashi Igarashi   +2 more
openalex   +2 more sources

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

, 2005
Ronald Roepman, Stef J.F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P.M. Cremers   +7 more
openalex   +1 more source

Prostaglandin E ₁ 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
openalex   +1 more source

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]

, 2017
Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have previously demonstrated that RP can be caused by recessive mutations in the human FAM161A gene, encoding a protein with unknown ...
Arsenijevic, Yvan, Bandah-Rozenfeld, Dikla, Di Gioia, Silvio Alessandro, Hetterschijt, Lisette, Kostic, Corinne, Letteboer, Stef J.F., Rivolta, Carlo, Roepman, Ronald, Sharon, Dror   +8 more
core  

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

, 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
openalex   +1 more source

Clinical improvement of encapsulating peritoneal sclerosis after challenging course and 6 months of total parenteral nutrition in child with nephronophthisis: a case report [PDF]

, 2021
Saeed Alzabali, Abdulkarim Alanazi, Khawla A. Rahim, Hassan Faqeehi   +3 more
openalex   +1 more source