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Items: 27

1.

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP.

Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6.

2.

Gene expression in blood from an individual with β-thalassemia: An RNA sequence analysis.

Taghavifar F, Hamid M, Shariati G.

Mol Genet Genomic Med. 2019 Jul;7(7):e00740. doi: 10.1002/mgg3.740. Epub 2019 May 27.

3.

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Hashemian S, Eshraghi P, Dilaver N, Galehdari H, Shalbafan B, Vakili R, Ghaemi N, Ahangari N, Rezazadeh Varaghchi J, Zeighami J, Sedaghat A, Aminzadeh M, Hamid M, Saberi A, Ashtari F, Ghayoor Karimiani E, Shariati G.

Iran J Child Neurol. 2019 Spring;13(2):155-162.

4.

Cytogenetic identification of Khuzestani water Buffalo.

Alikhani J, Mohammadi G, Shariati G.

Vet Res Forum. 2018 Fall;9(4):357-360. doi: 10.30466/vrf.2018.33075. Epub 2018 Dec 15.

5.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

6.

A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient

Hamid M, Zargan Nezhad E, Galehdari H, Saberi A, Shariati G, Sedaghat A.

Iran Biomed J. 2018 Oct 14. [Epub ahead of print]

7.

Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH.

Shariati G, Saberi A, Hamid M, Galehdari H, Sedaghat A, Abdorasuli N.

Clin Case Rep. 2018 Jun 13;6(8):1464-1469. doi: 10.1002/ccr3.1604. eCollection 2018 Aug.

8.

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R.

Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21.

PMID:
30128655
9.

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.

Aminzadeh M, Galehdari H, Shariati G, Malekpour N, Ghandil P.

J Pediatr (Rio J). 2018 Aug 4. pii: S0021-7557(18)30453-4. doi: 10.1016/j.jped.2018.07.005. [Epub ahead of print]

10.

Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Keikhaei B, Slehi-Fard P, Shariati G, Khosravi A.

Biochem Genet. 2018 Oct;56(5):506-521. doi: 10.1007/s10528-018-9857-6. Epub 2018 Apr 7.

PMID:
29627922
11.

Mutation Screening of the Krüppel-like Factor 1 Gene in Individuals With Increased Fetal Hemoglobin Referred for Hemoglobinopathy Investigation in South of Iran.

Hamid M, Ershadi Oskouei S, Shariati G, Babaei E, Galehdari H, Saberi A, Sedaghat A.

J Pediatr Hematol Oncol. 2018 Apr;40(3):192-195. doi: 10.1097/MPH.0000000000001093.

PMID:
29420372
12.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

13.

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B.

Brain. 2017 Oct 1;140(10):e65. doi: 10.1093/brain/awx222. No abstract available.

14.

Wound Healing Activity of Extracts and Formulations of Aloe vera, Henna, Adiantum capillus-veneris, and Myrrh on Mouse Dermal Fibroblast Cells.

Negahdari S, Galehdari H, Kesmati M, Rezaie A, Shariati G.

Int J Prev Med. 2017 Mar 10;8:18. doi: 10.4103/ijpvm.IJPVM_338_16. eCollection 2017.

15.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.

Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.

16.

Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.

Shahrokhi M, Shafiei M, Galehdari H, Shariati G.

Arch Iran Med. 2017 Jan;20(1):22-27. doi: 0172001/AIM.006.

17.
18.

Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran.

Rezaei F, Shafiei M, Shariati G, Dehdashtian A, Mohebbi M, Galehdari H.

Iran J Pediatr. 2016 Mar 5;26(2):e2493. doi: 10.5812/ijp.2493. eCollection 2016 Apr.

19.

The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran.

Hamid M, Dawoody Nejad L, Shariati G, Galehdari H, Saberi A, Mohammadi-Anaei M.

Iran Biomed J. 2017 Mar;21(2):126-8. Epub 2016 Mar 8.

20.

Radiographic evaluation of root canal fillings accomplished by undergraduate dental students.

Yavari H, Samiei M, Shahi S, Borna Z, Abdollahi AA, Ghiasvand N, Shariati G.

Iran Endod J. 2015;10(2):127-30. Epub 2015 Mar 18.

21.

Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.

Shariati G, Hamid M, Saberi A, Andashti B, Galehdari H.

Clin Case Rep. 2015 Feb;3(2):114-7. doi: 10.1002/ccr3.168. Epub 2014 Nov 26.

22.

Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).

Saberi A, Shariati G, Hamid M, Galehdari H, Abdorasouli N.

Arch Iran Med. 2014 Sep;17(9):642-4. doi: 0141709/AIM.0013.

23.

A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.

Hamid M, Bokharaei Merci H, Galehdari H, Saberi AH, Kaikhaei B, Mohammadi-Anaei M, Ahmadzadeh A, Shariati G.

Arch Iran Med. 2014 Jul;17(7):475-6. doi: 0141707/AIM.005.

24.

Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

Hafizi A, Khatami SR, Galehdari H, Shariati G, Saberi AH, Hamid M.

Iran Biomed J. 2014 Jul;18(3):143-50.

25.

Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran.

Hamid M, Shariati G, Saberi A, Kaikhaei B, Galehdari H, Mohammadi-Anaei M.

Arch Iran Med. 2013 Sep;16(9):563-4. doi: 013169/AIM.0017.

26.

Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],a new hemoglobin variant of the α2-globin gene.

Hamid M, Shariati G, Saberi A, Galehdari H, Kaikhaei B, Mohammadi-Anaei M.

Hemoglobin. 2013;37(5):477-80. doi: 10.3109/03630269.2013.792095. Epub 2013 May 15.

PMID:
23672273
27.

Inflammatory profile, age of onset, and the MTHFR polymorphism in patients with multiple sclerosis.

Alatab S, Hossein-nezhad A, Mirzaei K, Mokhtari F, Shariati G, Najmafshar A.

J Mol Neurosci. 2011 May;44(1):6-11. doi: 10.1007/s12031-010-9486-y. Epub 2010 Dec 29.

PMID:
21190091

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