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Results: 15

1.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PMID:
24088041
[PubMed - indexed for MEDLINE]
Free Article
2.

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.

Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU.

Gene. 2012 May 10;499(1):209-12. doi: 10.1016/j.gene.2012.02.034. Epub 2012 Mar 3.

PMID:
22405928
[PubMed - indexed for MEDLINE]
3.

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

Lemaire SA, McDonald ML, Guo DC, Russell L, Miller CC 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM.

Nat Genet. 2011 Sep 11;43(10):996-1000. doi: 10.1038/ng.934.

PMID:
21909107
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L.

Am J Med Genet A. 2011 May;155A(5):1165-9. doi: 10.1002/ajmg.a.33968. Epub 2011 Apr 4.

PMID:
21465659
[PubMed - indexed for MEDLINE]
5.

Renal ultrasonographic evaluation in children at risk of autosomal dominant polycystic kidney disease.

Reed B, Nobakht E, Dadgar S, Bekheirnia MR, Masoumi A, Belibi F, Yan XD, Cadnapaphornchai M, Schrier RW.

Am J Kidney Dis. 2010 Jul;56(1):50-6. doi: 10.1053/j.ajkd.2010.02.349. Epub 2010 May 8.

PMID:
20452711
[PubMed - indexed for MEDLINE]
6.

Genotype-phenotype correlation in X-linked Alport syndrome.

Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW.

J Am Soc Nephrol. 2010 May;21(5):876-83. doi: 10.1681/ASN.2009070784. Epub 2010 Apr 8.

PMID:
20378821
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Developments in the management of autosomal dominant polycystic kidney disease.

Masoumi A, Reed-Gitomer B, Kelleher C, Bekheirnia MR, Schrier RW.

Ther Clin Risk Manag. 2008 Apr;4(2):393-407.

PMID:
18728845
[PubMed]
Free PMC Article
8.

Variation in age at ESRD in autosomal dominant polycystic kidney disease.

Reed BY, McFann K, Bekheirnia MR, Nobakhthaghighi N, Masoumi A, Johnson AM, Shamshirsaz AA, Kelleher CL, Schrier RW.

Am J Kidney Dis. 2008 Feb;51(2):173-83. doi: 10.1053/j.ajkd.2007.10.037. Erratum in: Am J Kidney Dis. 2008 Jul;52(1):199. Reza Bekheirnia, M [corrected to Bekheirnia, Mir R]; Nobkhthaghighi, Niloofar [corrected to Nobakhthaghighi, Niloofar]; Shamshiraz, Alireza Abdollah [corrected to Shamshiraz, Alireza A].

PMID:
18215695
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Bone mineral density in Iranian adolescents and young adults with beta-thalassemia major.

Shamshirsaz AA, Bekheirnia MR, Kamgar M, Pakbaz Z, Tabatabaie SM, Bouzari N, Pourzahedgilani N, Azarkeivan A, Hashemi SR, Moosavi F, Alebouyeh M, Vosough P, Kimiagar M, Shamshirsaz AA, Moradi M, Habibzadeh MR, Nobakhthaghighi N, Larijani B.

Pediatr Hematol Oncol. 2007 Oct-Nov;24(7):469-79.

PMID:
17786783
[PubMed - indexed for MEDLINE]
10.

Relationship between urinary albumin excretion and left ventricular mass with mortality in patients with type 2 diabetes.

Nobakhthaghighi N, Kamgar M, Bekheirnia MR, McFann K, Estacio R, Schrier RW.

Clin J Am Soc Nephrol. 2006 Nov;1(6):1187-90. Epub 2006 Sep 13.

PMID:
17699346
[PubMed - indexed for MEDLINE]
Free Article
11.

Pathophysiology of water and sodium retention: edematous states with normal kidney function.

Bekheirnia MR, Schrier RW.

Curr Opin Pharmacol. 2006 Apr;6(2):202-7. Epub 2006 Feb 17. Review.

PMID:
16483846
[PubMed - indexed for MEDLINE]
12.

The role of hemodialysis machines dedication in reducing Hepatitis C transmission in the dialysis setting in Iran: a multicenter prospective interventional study.

Shamshirsaz AA, Kamgar M, Bekheirnia MR, Ayazi F, Hashemi SR, Bouzari N, Habibzadeh MR, Pourzahedgilani N, Broumand V, Shamshirsaz AH, Moradi M, Borghei M, Haghighi NN, Broumand B.

BMC Nephrol. 2004 Oct 7;5:13.

PMID:
15469615
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Serum zinc and its relation to bone mineral density in beta-thalassemic adolescents.

Bekheirnia MR, Shamshirsaz AA, Kamgar M, Bouzari N, Erfanzadeh G, Pourzahedgilani N, Tabatabaie SM, Abdollah Shamshirsaz A, Kimiagar M, Ezzati F, Larijani B.

Biol Trace Elem Res. 2004 Mar;97(3):215-24.

PMID:
14997022
[PubMed - indexed for MEDLINE]
14.

Bone mineral density is related to blood pressure in men.

Larijani B, Bekheirnia MR, Soltani A, Khalili-Far A, Adibi H, Jalili RB.

Am J Hum Biol. 2004 Mar-Apr;16(2):168-71.

PMID:
14994316
[PubMed - indexed for MEDLINE]
15.

Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran.

Shamshirsaz AA, Bekheirnia MR, Kamgar M, Pourzahedgilani N, Bouzari N, Habibzadeh M, Hashemi R, Shamshirsaz AA, Aghakhani S, Homayoun H, Larijani B.

BMC Endocr Disord. 2003 Aug 12;3(1):4.

PMID:
12914670
[PubMed - as supplied by publisher]
Free PMC Article

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