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Items: 24

1.

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH, Al-Sabban E, Al-Mojalli H, Al-Harbi N, Faqeih E, Al Shaya H, Alhasan K, Al-Hissi S, Rajab M, Edwards N, Al-Abbad A, Al-Hassoun I, Sayer JA, Meyer BF.

J Hum Genet. 2013 Jul;58(7):480-9. doi: 10.1038/jhg.2013.27. Epub 2013 Apr 18.

PMID:
23595123
2.

Gonadal mosaicism as a rare cause of autosomal recessive inheritance.

Anazi S, Al-Sabban E, Alkuraya FS.

Clin Genet. 2014 Mar;85(3):278-81. doi: 10.1111/cge.12156. Epub 2013 Apr 22.

PMID:
23551117
3.

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al-Sabban E, Baudouin V, Abel L, Grünfeld JP, Antignac C.

Kidney Int. 2009 Apr;75(7):727-35. doi: 10.1038/ki.2008.650. Epub 2009 Jan 14.

4.

Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome.

Taha D, Al-Harbi N, Al-Sabban E.

J Pediatr Endocrinol Metab. 2008 Jun;21(6):581-6.

PMID:
18717244
5.

Post renal transplantation tubulopathies in children: a 9-year experience at a tertiary care centre.

Al-Ibrahim A, Sanjed S, Al-Abbad A, Al-Sabban E, Al-Shaibani K.

Saudi J Kidney Dis Transpl. 2004 Jan-Mar;15(1):27-33.

6.
7.

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE.

J Med Genet. 2002 Nov;39(11):796-803.

8.

Infantile nephrotic syndrome and congenital glaucoma.

Kari JA, Bamashmous H, Lingawi S, Al-Sabban E, Akhtar M.

Pediatr Nephrol. 2001 Nov;16(11):894-7.

PMID:
11685596
9.

Renal tubular dysfunction following kidney transplantation: a prospective study in 31 children.

Sanjad SA, Ibrahim A, Al Shorafa S, Al Abbad A, Khauli RB, Shaibani KA, Al Sabban E.

Transplant Proc. 2001 Aug;33(5):2830-1. No abstract available.

PMID:
11498177
10.

Coexistent linear scleroderma and juvenile systemic lupus erythematosus.

Majeed M, Al-Mayouf SM, Al-Sabban E, Bahabri S.

Pediatr Dermatol. 2000 Nov-Dec;17(6):456-9. Review.

PMID:
11123778
11.

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.

Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.

Hum Genet. 1999 Sep;105(3):240-3.

PMID:
10987651
12.

Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case.

Akhtar M, Al-Sabban E.

Pediatr Nephrol. 2000 Sep;14(10-11):973-5.

PMID:
10975309
13.

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE.

Nat Genet. 2000 Sep;26(1):71-5.

PMID:
10973252
14.

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.

Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP.

Am J Hum Genet. 1999 Dec;65(6):1656-65.

15.

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP.

Science. 1999 Jul 2;285(5424):103-6.

16.

Horseshoe kidney with hydronephrosis secondary to ureteric stenosis: construction of a ureter from the renal pelvis.

Al-Shamsi A, Abudaia J, Al-Sabban E, Ahmed S.

BJU Int. 1999 Jan;83(1):146-7. No abstract available.

PMID:
10233471
17.

Coxiella burnetii endocarditis in a child.

al-Hajjar S, Hussain Qadri SM, al-Sabban E, Jäger C.

Pediatr Infect Dis J. 1997 Sep;16(9):911-3. No abstract available.

PMID:
9306492
18.

Spectrum of glomerular disease among children in saudi arabia.

Al-Sabban E.

Saudi J Kidney Dis Transpl. 1997 Jul-Sep;8(3):285-8.

19.

Congenital chloride diarrhea: A single center experience with ten patients.

Al-Abbad A, Nazer H, Sanjad SA, Al-Sabban E.

Ann Saudi Med. 1995 Sep;15(5):466-9.

20.

Kidney transplantations at King Faisal Specialist Hospital and Research Centre.

Lundgren G, Al-Furayh O, Akhtar M, Barri Y, Collste H, Al-Meshari K, Qunibi W, Al-Sabban E, Sanjad S, Al-Shaibani K, Sheth K, Taher S.

Ann Saudi Med. 1994 Jan;14(1):5-11.

21.

Clinical and serologic responses of Saudi children to Hemophilus influenzae type B capsular polysaccharide diphtheria toxoid conjugate vaccine.

Frayha HH, Shaheen H, Ganelin RS, Kattan HA, Tufenkeji HT, Krotzer S, Barretto L, Schaart W, Al-Sabban EA, Sakati NA.

Ann Saudi Med. 1993 May;13(3):215-21.

22.

Five-years' experience with cadaveric kidney transplantation at King Faisal Specialist Hospital and Research Center, Riyadh.

Lundgren G, Alfurayh O, Duffy BB, Nicholls P, Qunibi W, al-Sabban E, Sanjad S, Taher S.

Transplant Proc. 1992 Oct;24(5):1840. No abstract available.

PMID:
1412873
23.

FK 506 associated disorders in liver transplantation.

Nazer H, al-Sabban E, Harfi H, Antonius J, da Cunha AM.

J Gastroenterol Hepatol. 1992 May-Jun;7(3):257-9.

PMID:
1377038
24.

The kidney transplantation program at King Faisal Specialist Hospital and Research Centre, Riyadh.

Lundgren G, Alfurayh O, Collste C, Duffy BB, Nicholls P, al-Sabban E, Sanjad S, Taher S, Qunibi W.

Transplant Proc. 1992 Feb;24(1):336-8. No abstract available.

PMID:
1539302

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