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Items: 9

1.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Al-Hamed MH, Kurdi W, Alsahan N, Alabdullah Z, Abudraz R, Tulbah M, Alnemer M, Khan R, Al-Jurayb H, Alahmed A, Tahir AI, Khalil D, Edwards N, Al Abdulaziz B, Binhumaid FS, Majid S, Faquih T, El-Kalioby M, Abouelhoda M, Altassan N, Monies D, Meyer B, Sayer JA, Albaqumi M.

J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9.

2.

The Senior-Loken syndrome: Two cases from the State of Qatar.

Othman M, Rashed A, Bakr A.

J Clin Diagn Res. 2012 Oct;6(8):1411-3. doi: 10.7860/JCDR/2012/4131.2372.

3.

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

Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H.

Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968.

4.

Cystic kidney diseases: many ways to form a cyst.

Loftus H, Ong AC.

Pediatr Nephrol. 2013 Jan;28(1):33-49. doi: 10.1007/s00467-012-2221-x. Epub 2012 Jun 27. Review.

5.

Nephronophthisis: a genetically diverse ciliopathy.

Simms RJ, Hynes AM, Eley L, Sayer JA.

Int J Nephrol. 2011;2011:527137. doi: 10.4061/2011/527137. Epub 2011 May 15.

6.

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.

Masyukova SV, Winkelbauer ME, Williams CL, Pieczynski JN, Yoder BK.

Hum Mol Genet. 2011 Aug 1;20(15):2942-54. doi: 10.1093/hmg/ddr198. Epub 2011 May 5.

7.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F.

Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.

8.

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

Soliman NA, Hildebrandt F, Allen SJ, Otto EA, Nabhan MM, Badr AM.

Pediatr Nephrol. 2010 Oct;25(10):2193-4. doi: 10.1007/s00467-010-1539-5. Epub 2010 May 8. No abstract available.

9.

The dynamic cilium in human diseases.

D'Angelo A, Franco B.

Pathogenetics. 2009 May 13;2(1):3. doi: 10.1186/1755-8417-2-3.

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