Results 151 to 160 of about 6,344 (210)

Monkeypox Infection in Kidney Transplant Recipients.

Kidney Blood Press Res
Sheng AQ, Zhao ZQ, Liu F, Wang JJ, Mao JH, Fu HD.   +5 more
europepmc   +1 more source

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. [PDF]

Hum Mol Genet
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM.   +15 more
europepmc   +1 more source

Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report. [PDF]

CEN Case Rep
Tanaka Y, Horinouchi T, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Nagano C, Yano Y, Yoshikawa N, Morisada N, Nozu K.   +12 more
europepmc   +1 more source

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome. [PDF]

NPJ Genom Med
de Bruijn SE, Ingeborgh VDBL, Derks R, Haer-Wigman L, O'Gorman L, Cremers FPM, van Beek R, Hoischen A, Roosing S, Neveling K.   +9 more
europepmc   +1 more source

A Case of Horseshoe Kidney and Autosomal Dominant Polycystic Kidney Disease with <i>PKD1</i> Gene Mutation. [PDF]

J Clin Med
Kim H, Lee SJ, Kim W.
europepmc   +1 more source

Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies. [PDF]

EMBO Mol Med
Clerici S, Boletta A.
europepmc   +1 more source

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis. [PDF]

Pediatr Nephrol
Hellmann C, Wohlgemuth K, Pennekamp P, George S, Dahmer-Heath M, Konrad M, Omran H, König J, NEOCYST Consortium.   +8 more
europepmc   +1 more source

Cocoon Syndrome as a Cause of Intestinal Failure and Indication for Combined Liver-Intestine-Kidney Transplantation. [PDF]

Intest Fail
Gentilini MV, Doeyo M, Marco S, Illidge PL, Pattin F, Fraile A, Ramisch D, Rumbo M, Solar H, Gondolesi GE.   +9 more
europepmc   +1 more source

Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review. [PDF]

BMC Pediatr
Zhen Z, Dong Z, Gao L, Wang Q, Chen X, Na J, Yuan Y.   +6 more
europepmc   +1 more source