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- Publications
- Influence
Kavosh: a new algorithm for finding network motifs
- Z. Kashani, H. Ahrabian, +6 authors A. Masoudi-Nejad
- Computer Science, Medicine
- BMC Bioinformatics
- 4 October 2009
TLDR
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.
- S. Shojaee, F. Sina, +6 authors E. Elahi
- Biology, Medicine
- American journal of human genetics
- 6 June 2008
Robust SNP genotyping technologies and data analysis programs have encouraged researchers in recent years to use SNPs for linkage studies. Platforms used to date have been 10 K chip arrays, but the… Expand
Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
- C. Paisán-Ruíz, R. Guevara, +13 authors H. Houlden
- Medicine
- Movement disorders : official journal of the…
- 15 September 2010
Seven autosomal recessive genes associated with juvenile and young‐onset Levodopa‐responsive parkinsonism have been identified. Mutations in PRKN, DJ‐1, and PINK1 are associated with a rather pure… Expand
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
- Mehrnaz Narooie-Nejad, Seyed Hassan Paylakhi, +9 authors C. Paisán-Ruiz
- Biology, Medicine
- Human molecular genetics
- 15 October 2009
Glaucoma is a heterogeneous group of optic neuropathies that manifests by optic nerve head cupping or degeneration of the optic nerve, resulting in a specific pattern of visual field loss. Glaucoma… Expand
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
- Fereshteh Chitsazian, Betsabeh Khoramian Tusi, +20 authors M. Sarfarazi
- Biology, Medicine
- The Journal of molecular diagnostics : JMD
- 1 July 2007
The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single… Expand
LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani‐like syndrome and affect disruptions in the extracellular matrix
- Ramona Haji-Seyed-Javadi, Sahar Jelodari-Mamaghani, +13 authors E. Elahi
- Biology, Medicine
- Human mutation
- 1 August 2012
Latent transforming growth factor (TGF) beta‐binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin‐1 containing microfibrils. Various factors prompted… Expand
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
- E. Elahi, Reza Kalhor, +6 authors B. Loeys
- Biology, Medicine
- The Journal of investigative dermatology
- 1 July 2006
Cutis laxa is a rare group of inherited and acquired disorders characterized by loose and redundant skin with reduced elasticity. Mutations in the elastin coding gene have been shown to cause… Expand
Contributions of MYOC and CYP1B1 mutations to JOAG
- B. Bayat, S. Yazdani, +7 authors E. Elahi
- Biology, Medicine
- Molecular vision
- 13 March 2008
Purpose To investigate the role of MYOC and CYP1B1 in Iranian juvenile open angle glaucoma (JOAG) patients. Methods Twenty-three JOAG probands, their available affected and unaffected family members,… Expand
Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
- A. Alavi, S. Nafissi, M. Rohani, Gholamali Shahidi, E. Elahi
- Medicine
- Neurobiology of Aging
- 31 January 2014
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in populations of European descent. It was recently found that a hexanucleotide repeat expansion in C9ORF72 is its most… Expand
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain
- E. Jaberi, M. Rohani, G. A. Shahidi, S. Nafissi, E. Elahi
- Biology, Medicine
- Neurobiology of Aging
- 1 February 2016
We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficiency in a consanguineous family with 3 affected siblings by linkage analysis and exome sequencing. Iron… Expand