Results 231 to 240 of about 8,333 (256)

JUVENILE NEPHRONOPHTHISIS

The Lancet, 1973
P R, Betts, I, Forrest-Hay
openaire   +2 more sources

Infantile nephronophthisis.

The International journal of pediatric nephrology, 1988
Juvenile nephronophthisis is a common cause of end stage renal failure in children and adolescents. The early occurrence with rapid progression to advanced renal failure has not previously been described. In this report we present three babies in whom failure to thrive, dehydration and a renal concentrating defect presented soon after birth; they were ...
E, Bodaghi, M T, Honarmand, M, Ahmadi
openaire   +1 more source

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

Journal of Human Genetics, 2022
Nana Sakakibara, K. Nozu, Tomohiko Yamamura, T. Horinouchi, C. Nagano, M. Ye, Shinya Ishiko, Y. Aoto, Rini Rossanti, R. Hamada, N. Okamoto, Yuko Shima, K. Nakanishi, M. Matsuo, K. Iijima, N. Morisada   +15 more
semanticscholar   +1 more source

Loss of nephronophthisis-associated nephrocystin-1 impairs DNA damage repair in kidney organoids

bioRxiv
E. Sendino Garví, S. Biermans, N.V.A.M. Knoers, A. V. van Eerde, R. Masereeuw, G. Slaats, A. M. van Genderen, M. Janssen   +7 more
semanticscholar   +1 more source

[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2022
J. Zhang, L. Sun, X. Kuang, Y. Kang, S. Hao, D. Feng, X. Niu, W. Huang   +7 more
semanticscholar   +1 more source

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

European Journal of Human Genetics
Z. Sentell, Z. Nurcombe, Lina Mougharbel, Natascia Anastasio, Jean-Baptiste Rivière, Sima Babayeva, Paul Goodyer, Elena Torban, Thomas M. Kitzler   +8 more
semanticscholar   +1 more source

Nephroangiography in Nephronophthisis

Acta Radiologica. Diagnosis, 1973
P, Junghagen, B, Lindqvist
openaire   +2 more sources

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

Documenta Ophthalmologica
F. Bartol-Puyal, B. Cordón, E. Vilades, S. Méndez-Martínez, Óscar Ruiz Moreno, Luis Pablo   +5 more
semanticscholar   +1 more source

Familial Juvenile Nephronophthisis

Acta Paediatrica, 1962
, von SYDOW, S, RANSTROM
openaire   +2 more sources

Nephronophthisis-associated ciliopathy with brachydactyly, medullary cysts, and chronic kidney disease.

Kidney International
Way Loon Jonathan Chen, Kin Fen Kevin Fung, E. Chan   +2 more
semanticscholar   +1 more source