Results 161 to 170 of about 8,333 (256)

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Kidney International Reports, 2022
J. König, Rebeka Karsay, J. Gerss, K. Schlingmann, M. Dahmer-Heath, Anna-Katharina Telgmann, S. Kollmann, G. Ariceta, V. Gillion, D. Bockenhauer, A. Bertholet-Thomas, A. Mastrangelo, O. Boyer, M. Lilien, S. Decramer, J. Schanstra, M. Pohl, Raphael Schild, S. Weber, J. Hoefele, J. Drube, M. Cetiner, M. Hansen, J. Thumfart, B. Tönshoff, S. Habbig, M. Liebau, M. Bald, C. Bergmann, P. Pennekamp, M. Konrad, P. J. C. M. M. J. J. D. T. I. N. S. J. M. M.C. C. C. Antczak Birtel Bergmann Cetiner Dahmer-Heath Drube, P. Antczak, J. Birtel, C. Bergmann, M. Cetiner, M. Dahmer-Heath, J. Drube, J. Gerss, D. Haffner, T. Illig, I. Kamp-Becker, N. Klopp, S. Kollmann, J. König, M. Konrad, M. Liebau, C. Nittel, C. Okorn, H. Omran, L. Pape, P. Pennekamp, F. Schäfer, B. Schermer, H. Storf, J. Vasseur, S. Weber, K. Wohlgemuth, W. Ziegler, C. Gimpel, J. Göbel, B. Schlevogt   +61 more
semanticscholar   +1 more source

Renaming Medullary Cystic Kidney Disease: A Review of Semantic Nomenclature. [PDF]

Cureus
Kuang K, Vatsa S, Ramakrishnan R, Shenoy A, Shoja MM, Al-Eyd G.   +5 more
europepmc   +1 more source

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) [PDF]

, 2009
Edgar A. Otto, Kálmán Tory, Massimo Attanasio, Weibin Zhou, Moumita Chaki, Yasaswi Paruchuri, Eric L. Wise, M T F Wolf, Boris Utsch, C. Becker, Gudrun Nürnberg, Peter Nürnberg, Ahmet Nayır, Sophie Saunier, Corinne Antignac, Friedhelm Hildebrandt   +15 more
openalex   +1 more source

Molecular mechanisms of <i>TTC21B</i> gene mutations in nephronophthisis type 12 and genetic prevention through PGT. [PDF]

Front Genet
Deng K, Li J, Hu X, Wei H, Wang C, Cheng Q, Jiang Y, Cai L, Tang D, Cao G, Wang X.   +10 more
europepmc   +1 more source

Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities? [PDF]

Pediatr Nephrol
Dahmer-Heath M, Optenhövel S, Hechler T, Konrad M, König J.   +4 more
europepmc   +1 more source

Urinary Concentration Defects and Mechanisms Underlying Nephronophthisis [PDF]

, 2008
Rajesh Krishnan, Lorraine Eley, John A. Sayer   +2 more
openalex   +1 more source

Granulomatous nephropathy: have you thought about genetics? [PDF]

Pediatr Nephrol
Vedrine E, Bessenay L, Philipponnet C, Dancer M, Bertholet-Thomas A.   +4 more
europepmc   +1 more source

Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.

, 2019
Huamu Chen, Hongrong Lin, Zhihui Yue, Haiyan Wang, Junhui Yang, Liangzhong Sun   +5 more
openalex   +1 more source

Nephronophthisis-associated ciliopathy within Sensenbrenner's syndrome: clinical report and literature review

Svetlana Papizh, A.V. Topchiy, Т. В. Маркова, Tatyana Nagornova   +3 more
openalex   +2 more sources

Supplementary Material for: Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype

karger, figshare admin, L.R., Claus, R., Snoek, S., Faber, A.J.C., Roskothen-Shevchuk, E., SendinoGarví, E.D.J., Peters, S.M.C., Savelberg, K., Duran, B., vanderZwaag, T.Q., Nguyen, R., Broekhuizen, W.J., Brummelhuis, M., Rookmaaker, S.W., vanderVeen, M.G., Elferink, A., Karras, L., Raymond, C., Mousseaux, O., Sadeghi-Alavijeh, J.A., Sayer, E., Olinger, R., Neatu, V., Klämbt, M.F., Stokman, N.V.A.M., Knoers, F., Tessadori, D.P., Gale, K., Boldt, M., Ueffing, G.G., Slaats, R., Roepman, F., Hildebrandt, L., Mesnard, G., vanHaaften, A.M., vanEerde   +35 more
openalex   +1 more source