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Items: 41

1.

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F.

Hum Genet. 2019 Oct;138(10):1105-1115. doi: 10.1007/s00439-019-02042-4. Epub 2019 Jun 22.

PMID:
31230195
2.

Histological and histochemical studies on the oviduct microcirculation of the laying Japanese quail (Coturnix japonica).

El-Desoky SMM, Mustafa FEA.

Anat Histol Embryol. 2019 Jul;48(4):346-357. doi: 10.1111/ahe.12447. Epub 2019 May 23.

PMID:
31119780
3.

Genetics of congenital and infantile nephrotic syndrome.

Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA.

World J Pediatr. 2019 Apr;15(2):198-203. doi: 10.1007/s12519-018-00224-0. Epub 2019 Feb 5.

PMID:
30721404
4.

A case of urinary bladder agenesis and bilateral ectopic ureters: a case report.

Nazer II, Alhashmi G, Sharief SN, Hefni NA, Ibrahim A, El-Desoky SM, Alsayyad AJ, Safdar OY, Kari JA.

BMC Urol. 2018 Sep 26;18(1):83. doi: 10.1186/s12894-018-0396-6.

5.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F.

J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24.

6.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F.

J Am Soc Nephrol. 2018 Aug;29(8):2123-2138. doi: 10.1681/ASN.2017121312. Epub 2018 Jun 29.

7.

Efficiency of Using Pediatrics Emergency Services and Triage Evaluation.

El Desoky S, Mashat S, Bana S, Alama M, Dhabab N, Malibari GM, Halwani M, Albanna AS, Kari JA.

Pediatr Emerg Care. 2018 Jun;34(6):417-421. doi: 10.1097/PEC.0000000000000754.

PMID:
29851918
8.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F.

Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.

9.

A Rare Benign Tumor in a 14-Year-Old Girl.

Abualjadayel MH, Safdar OY, Banjari MA, El Desoky S, Mokhtar GA, Azhar RA.

Case Rep Nephrol. 2018 Jan 31;2018:1548283. doi: 10.1155/2018/1548283. eCollection 2018.

10.

Etiology, ethics, and outcomes of chronic kidney disease in neonates.

Kari JA, Sharief SN, El Desoky SM, Alhasan KA, Albanna AS.

Saudi Med J. 2018 Apr;39(4):361-367. doi: 10.15537/smj.2018.4.21712.

11.

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, El Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F.

Nephrol Dial Transplant. 2019 Mar 1;34(3):485-493. doi: 10.1093/ndt/gfy028.

12.

HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome.

Adeyemo A, Esezobor C, Solarin A, Abeyagunawardena A, Kari JA, El Desoky S, Greenbaum LA, Kamel M, Kallash M, Silva C, Young A, Hunley TE, de Jesus-Gonzalez N, Srivastava T, Gbadegesin R.

Am J Kidney Dis. 2018 Mar;71(3):399-406. doi: 10.1053/j.ajkd.2017.10.013. Epub 2017 Dec 23.

13.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

14.

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.

Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Fehér K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F.

J Clin Invest. 2017 Dec 1;127(12):4257-4269. doi: 10.1172/JCI94138. Epub 2017 Oct 23.

15.

Outcome of pediatric acute kidney injury: a multicenter prospective cohort study.

Kari JA, Alhasan KA, Shalaby MA, Khathlan N, Safdar OY, Al Rezgan SA, El Desoky S, Albanna AS.

Pediatr Nephrol. 2018 Feb;33(2):335-340. doi: 10.1007/s00467-017-3786-1. Epub 2017 Sep 15.

PMID:
28917005
16.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F.

Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12.

17.

Facial swelling in a child on chronic hemodialysis: Answers.

Sawan ZA, El-Desoky SM, Shalaby MA, Bockenhauer D, Kari JA.

Pediatr Nephrol. 2017 Aug;32(8):1351-1353. doi: 10.1007/s00467-016-3525-z. Epub 2016 Nov 17. No abstract available.

PMID:
27858195
18.

Facial swelling in a child on chronic hemodialysis: Questions.

Sawan ZA, El-Desoky SM, Shalaby MA, Bockenhauer D, Kari JA.

Pediatr Nephrol. 2017 Aug;32(8):1349-1350. doi: 10.1007/s00467-016-3523-1. Epub 2016 Nov 17. No abstract available.

PMID:
27858194
19.

Prevalence of hypertension, obesity, hematuria and proteinuria amongst healthy adolescents living in Western Saudi Arabia.

Hothan KA, Alasmari BA, Alkhelaiwi OK, Althagafi KM, Alkhaldi AA, Alfityani AK, Aladawi MM, Sharief SN, El Desoky S, Kari JA.

Saudi Med J. 2016 Oct;37(10):1120-6. doi: 10.15537/smj.2016.10.14784.

20.

Efficiency of Using Pediatrics Emergency Services and Triage Evaluation.

El Desoky S, Mashat S, Bana S, Alama M, Dhabab N, Malibari GM, Halwani M, Albanna AS, Kari JA.

Pediatr Emerg Care. 2016 Jun 2. [Epub ahead of print]

PMID:
27261954
21.

Prevalence of Hyperparathyroidism, Mineral and Bone Disorders in Children with Advanced Chronic Kidney Disease.

El Desoky S, Farag YM, Safdar E, Shalaby MA, Singh AK, Kari JA.

Indian J Pediatr. 2016 May;83(5):420-5. doi: 10.1007/s12098-015-1986-x. Epub 2016 Jan 30.

PMID:
26830276
22.

Erratum to: Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers.

Safdar OY, El-Desoky SM, Bockenhauer D, Sebire N, Kari JA.

Pediatr Nephrol. 2016 Jul;31(7):1199. No abstract available.

PMID:
26820663
23.

Outcome of Multi-Cystic Dysplastic Kidneys in Children.

Mashat SD, El-Desoky SM, Abdulaziz Kari J.

Iran J Pediatr. 2015 Oct;25(5):e2991. doi: 10.5812/ijp.2991. Epub 2015 Oct 6.

24.

Predictors of renal replacement therapy and mortality in children with chronic kidney disease.

Kari JA, El Desoky SM, Farag YM, Singh AK.

Saudi Med J. 2015 Jan;36(1):32-9. doi: 10.15537/smj.2015.1.9774.

25.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F.

J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.

26.

The case | Renal tubular acidosis and eye findings.

Kari JA, El Desoky SM, Singh AK, Gari MA, Kleta R, Bockenhauer D.

Kidney Int. 2014 Jul;86(1):217-8. doi: 10.1038/ki.2013.320. No abstract available.

27.

Steroid-resistant nephrotic syndrome in a child with dysmorphic features: answers.

Safdar O, El-Desoky SM, Bockenhauer D, Sebire N, Sabire N, Kari JA.

Pediatr Nephrol. 2014 May;29(5):839-40; quiz 837-8. doi: 10.1007/s00467-014-2754-2. Epub 2014 Jan 29. No abstract available. Erratum in: Pediatr Nephrol. 2014 May;29(5):945. Sabire, Neil [corrected to Sebire, Neil]. Pediatr Nephrol. 2016 Jul;31(7):1199. Safder, Osama Y [corrected to Safdar, Osama Y].

PMID:
24474578
28.

Steroid-resistant nephrotic syndrome: impact of genetic testing.

Kari JA, El-Desoky SM, Gari M, Malik K, Vega-Warner V, Lovric S, Bockenhauer D.

Ann Saudi Med. 2013 Nov-Dec;33(6):533-8. doi: 10.5144/0256-4947.2013.533.

29.

Vesicoureteric reflux in children.

Kari JA, El-Desoky SM, Basnawi F, Bahrawi O.

Urol Ann. 2013 Oct;5(4):232-6. doi: 10.4103/0974-7796.120292.

30.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.

J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.

31.

Social impact of dialysis on children and their families.

Kari JA, Alzahrany M, El-Deek B, Maimani M, El-Desoky S.

Indian J Pediatr. 2014 Oct;81(10):1020-6. doi: 10.1007/s12098-013-1236-z. Epub 2013 Oct 10. Erratum in: Indian J Pediatr. 2014 Nov;81(11):1282.

PMID:
24122420
32.

Subcutaneous nodules in a child on long-term dialysis.

El-Desoky SM, Bockenhauer D, Shroff R, Kari JA.

Pediatr Nephrol. 2014 Jul;29(7):1175-9. doi: 10.1007/s00467-013-2571-z. Epub 2013 Aug 30. No abstract available.

PMID:
23989395
33.

Is high-dose cholecalciferol justified in children with chronic kidney disease who failed low-dose maintenance therapy?

Kari JA, Baghdadi OT, El-Desoky S.

Pediatr Nephrol. 2013 Jun;28(6):933-7. doi: 10.1007/s00467-012-2407-2. Epub 2013 Jan 22.

PMID:
23338053
34.

Renal impairment in children with posterior urethral valves.

Kari JA, El-Desoky S, Farag YM, Mosli H, Altyieb AM, Al Sayad A, Radawi O, Ghabra H, Basnawi F, Bahrawi O, Singh A, Farsi H.

Pediatr Nephrol. 2013 Jun;28(6):927-31. doi: 10.1007/s00467-012-2390-7. Epub 2012 Dec 24.

PMID:
23263712
35.

Vitamin D insufficiency and deficiency in children with chronic kidney disease.

Kari JA, El Desoky SM, El-Morshedy SM, Habib HS.

Ann Saudi Med. 2012 Sep-Oct;32(5):473-8. doi: 10.5144/0256-4947.2012.473.

36.

Sterile peritonitis with high-dose amino acid-containing peritoneal dialysis solution in children.

Kari JA, El-Desoky S, Abuduhair AA, Habib H.

Perit Dial Int. 2012 Mar-Apr;32(2):204-6. doi: 10.3747/pdi.2011.00250. Epub 2012 Mar 1. No abstract available.

37.

Combined amino acid and glucose dialysate in children on automated peritoneal dialysis.

Kari JA, El-Desoky SM, Abuduhair AA, Habib HS.

Saudi Med J. 2011 Aug;32(8):852-4. No abstract available.

PMID:
21858397
38.

Rituximab for refractory cases of childhood nephrotic syndrome.

Kari JA, El-Morshedy SM, El-Desoky S, Alshaya HO, Rahim KA, Edrees BM.

Pediatr Nephrol. 2011 May;26(5):733-7. doi: 10.1007/s00467-011-1778-0. Epub 2011 Jan 31.

PMID:
21279725
39.

Simultaneous onset of steroid resistant nephrotic syndrome and IDDM in two young children.

Kari JA, El-Desoky SM, Mokhtar G, Jalalah SM.

BMJ Case Rep. 2010 Nov 29;2010. pii: bcr0420102916. doi: 10.1136/bcr.04.2010.2916.

40.

Two new flavonoids from Origanum vulgare.

Hawas UW, El-Desoky SK, Kawashty SA, Sharaf M.

Nat Prod Res. 2008;22(17):1540-3. doi: 10.1080/14786410600898987.

PMID:
19023817
41.

Flavonol glycosides from Mentha lavandulacea.

El-Desoky SK, El-Ansari MA, El-Negoumy SI.

Fitoterapia. 2001 Jun;72(5):532-7.

PMID:
11429248

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