Top

Pediatric Nephrology

Published in:

01-10-2010 | Letter to the Editors

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

Authors: Neveen A. Soliman, Friedhelm Hildebrandt, Susan J. Allen, Edgar A. Otto, Marwa M. Nabhan, Ahmed M. Badr

Published in: Pediatric Nephrology | Issue 10/2010

Excerpt

Sirs, …

Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20:23–35CrossRefPubMed

Otto EA, Helou J, Allen SJ, O’Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F (2008) Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat 29:418–426CrossRefPubMed

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 75:82–91CrossRefPubMed

Simms RJ, Eley L, Sayer JA (2009) Nephronophthisis. Eur J Hum Genet 17:406–416CrossRefPubMed

Phillips CL, Miller KJ, Filson AJ, Nürnberger J, Clendenon JL, Cook GW, Dunn KW, Overbeek PA, Gattone VH, Bacallao RL (2004) Renal cysts of inv/inv mice resemble early infantile nephronophthisis. J Am Soc Nephrol 15:1744–1755CrossRefPubMed

Title: Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient
Authors: Neveen A. Soliman
Friedhelm Hildebrandt
Susan J. Allen
Edgar A. Otto
Marwa M. Nabhan
Ahmed M. Badr
Publication date: 01-10-2010
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 10/2010
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1539-5

At a glance: The STEP trials

Springer Medicine

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 10/2010

Evaluating different imaging strategies in children after first febrile urinary tract infection

Cardiac arrhythmias and rhabdomyolysis in Bartter–Gitelman patients

Early appearance of hypokalemia in Gitelman syndrome

Serum RANKL, osteoprotegerin (OPG), and RANKL/OPG ratio in nephrotic children

Neurological impairment in nephropathic cystinosis: motor coordination deficits

MEFV E148Q polymorphism is associated with Henoch–Schönlein purpura in Chinese children