Results 71 to 80 of about 3,874 (165)

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

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

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

Nephronophthisis [PDF]

, 2020
openaire   +3 more sources

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

A Rare Genetic Association of an <i>NPHP2</i> Mutation With Nephronophthisis in a Child With Bombay Blood Group. [PDF]

J Med Cases
Leghrouz B, Hindi T, Hilo I, Ballout A, Hindiyeh M.   +4 more
europepmc   +1 more source

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome. [PDF]

J Clin Med
Li M, Li S, Cao Y, Sun A, Qu J.
europepmc   +1 more source

Renal Tubule-Specific Deletion of Nephrocystin 3 <i>(Nphp3)</i> Causes Infantile Nephronophthisis-like Phenotypes in Mice. [PDF]

Int J Mol Sci
Du X, Wang C, Fang Y, Wang G, Zhai Y, Shen Q, Tang X, Xu H.   +7 more
europepmc   +1 more source

From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M. [PDF]

Kidney Int Rep
Sıla Koç N.
europepmc   +1 more source