Literature DB >> 20454808

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

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

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Year:  2010        PMID： 20454808      PMCID： PMC4163789          DOI： 10.1007/s00467-010-1539-5

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  5 in total

1.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

2.  The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Authors:  Melissa A Parisi; Craig L Bennett; Melissa L Eckert; William B Dobyns; Joseph G Gleeson; Dennis W W Shaw; Ruth McDonald; Allison Eddy; Phillip F Chance; Ian A Glass
Journal:  Am J Hum Genet       Date:  2004-05-11       Impact factor: 11.025

3.  Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Authors:  Edgar A Otto; Juliana Helou; Susan J Allen; John F O'Toole; Eric L Wise; Shazia Ashraf; Massimo Attanasio; Weibin Zhou; Matthias T F Wolf; Friedhelm Hildebrandt
Journal:  Hum Mutat       Date:  2008-03       Impact factor: 4.878

4.  Renal cysts of inv/inv mice resemble early infantile nephronophthisis.

Authors:  Carrie L Phillips; Karen J Miller; Adele J Filson; Jens Nürnberger; Jeffrey L Clendenon; Gregory W Cook; Kenneth W Dunn; Paul A Overbeek; Vincent H Gattone; Robert L Bacallao
Journal:  J Am Soc Nephrol       Date:  2004-07       Impact factor: 10.121

Review 5.  Nephronophthisis: disease mechanisms of a ciliopathy.

Authors:  Friedhelm Hildebrandt; Massimo Attanasio; Edgar Otto
Journal:  J Am Soc Nephrol       Date:  2008-12-31       Impact factor: 10.121
  5 in total
  3 in total

1.  Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

Authors:  Neveen A Soliman; Friedhelm Hildebrandt; Edgar A Otto; Marwa M Nabhan; Susan J Allen; Ahmed M Badr; Maha Sheba; Sawsan Fadda; Ghada Gawdat; Hassan El-Kiky
Journal:  Saudi J Kidney Dis Transpl       Date:  2012-09

2.  Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family.

Authors:  Yiting Wang; Feng Chen; Jiali Wang; Yingwang Zhao; Fang Liu
Journal:  BMC Nephrol       Date:  2019-05-16       Impact factor: 2.388

3.  Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.

Authors:  Chunrong Tang; Daoyuan Zhou; Rongshao Tan; Xiaoshi Zhong; Xiao Xiao; Danping Qin; Yun Liu; Jianguang Hu; Yan Liu
Journal:  Mol Med Rep       Date:  2020-01-08       Impact factor: 2.952
  3 in total

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