Results 91 to 100 of about 5,140 (191)

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

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation

Introduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.
Méndez-Martínez, Silvia, Cordón, Beatriz, Viladés, Elisa, Pablo, Luis, Bartol-Puyal, Francisco de Asís, Ruiz Moreno, Óscar   +5 more
core   +1 more source

Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis

, 2018
Dimethyl fumarate is an FDA-approved oral immunomodulatory drug with anti-inflammatory properties that induces the upregulation of the anti-oxidant transcription factor, nuclear factor erythroid-derived factor 2.
Rao, P., Gopala Rangan, Oliver Oey, Magdalena Luciuk, Luciuk, M., Natasha M Rogers, Rangan, G., Padmashree Rao, Priyanka Sagar, Mannix, C., Oey, O., Sagar, P., Rogers, N.M., Carly Mannix, Wong, A., Annette Wong   +15 more
core   +1 more source

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

, 2015
Objective Nephronophthisis is an autosomal recessive renal ciliopathy that constitutes the leading monogenic cause of end-stage renal disease in children.
Cuppen, E., Van De Kar, N., Kamsteeg, E., Renkema, K., Arts, H., Gilissen, C., Bongers, E., Van Reeuwijk, J., Roepman, R., Geijsen, N., Lilien, M., Giles, R., Stokman, M., Nijman, I., Oud, M., Knoers, N., Kroes, H. Y., Regenerative Medicine and Stem Cells, Brain, Genetica, CMM Groep Cuppen, CMM Secretary, Genetica Sectie Genoomdiagnostiek, Nefro Vasculaire Geneeskunde, Nefrologie, Child Health, Genetica Klinische Genetica, Hubrecht Institute with UMC, Genetica Groep Van Tintelen, CMM, Genetica Medische Informatica, Circulatory Health, Cancer   +32 more
core  

Nephronophthisis [PDF]

, 2020
openaire   +3 more sources

Nephronophthisis: a variant.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2005
The case report describes a young boy with renal, retinal, hepatic and cerebellar involvement in a rare syndrome. He had polyuria, deranged renal functions and cystic lesions in kidneys, which led to the diagnosis of nephronophthisis (NPH). Extra-renal involvement with night blindness, truncal ataxia, mental retardation and hepatosplenomegaly.
Farkhanda, Hafeez, Farooq, Rasool, Tahir Masood, Ahmad   +2 more
openaire   +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  

Case report of a child with nephronophthisis from South Africa

BMC Pediatrics
Background Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and ...
Rajendra Bhimma, Edgar Jembere, Sudesh Hariparshad   +2 more
doaj   +1 more source

Beyond the Kidney: A Systematic Review of Extrarenal Manifestations in <i>MAPKBP1</i>-Related Nephronophthisis. [PDF]

Int J Mol Sci
Ambrosini E, Luberto A, Busciglio S, Baroni MC, Taiani A, Cannizzaro IR, Gandolfini I, Maggiore U, Martorana D, Uliana V, Barili V, Percesepe A.   +11 more
europepmc   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source