Found: 139
Select item for more details and to access through your institution.
High expression of miR‐510 was associated with CGG expansion located at upstream of FMR1 into full mutation.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 2, p. 1916, doi. 10.1002/jcb.27505
- By:
- Publication type:
- Article
High expression of miR‐510 was associated with CGG expansion located at upstream of FMR1 into full mutation.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 2, p. 1916, doi. 10.1002/jcb.27505
- By:
- Publication type:
- Article
A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.
- Published in:
- Journal of Gene Medicine, 2022, v. 24, n. 4, p. 1, doi. 10.1002/jgm.3406
- By:
- Publication type:
- Article
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 5, p. 858, doi. 10.1002/mds.23561
- By:
- Publication type:
- Article
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
- Published in:
- Human Genetics, 2007, v. 121, n. 1, p. 43, doi. 10.1007/s00439-006-0292-0
- By:
- Publication type:
- Article
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y
- By:
- Publication type:
- Article
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 368, doi. 10.1038/jhg.2014.28
- By:
- Publication type:
- Article
The Effect of Xmn -1 Polymorphism and Coinheritance of Alpha Mutations on Age at First Blood Transfusion in Iranian Patients with Homozygote IVSI-5 Mutation.
- Published in:
- International Journal of Hematology-Oncology & Stem Cell Research, 2022, v. 16, n. 1, p. 47
- By:
- Publication type:
- Article
The Effect of Xmn1 Gene Polymorphism on Blood Transfusion Dependency and Hemoglobin Concentration among Iranian Thalassemia Patients with IVSII-1 Mutation.
- Published in:
- Iranian Journal of Pediatric Hematology & Oncology, 2019, v. 9, n. 3, p. 184
- By:
- Publication type:
- Article
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r85
- By:
- Publication type:
- Article
Grxcr2 is required for stereocilia morphogenesis in the cochlea.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201713
- By:
- Publication type:
- Article
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome.
- Published in:
- Acta Medica Iranica, 2018, v. 56, n. 10, p. 677
- By:
- Publication type:
- Article
Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile.
- Published in:
- Acta Medica Iranica, 2014, v. 52, n. 5, p. 352
- By:
- Publication type:
- Article
Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.
- Published in:
- Modern Rheumatology, 2010, v. 20, n. 6, p. 566, doi. 10.3109/s10165-010-0317-3
- By:
- Publication type:
- Article
c AMP response element-binding protein 1 is required for hydroxyurea-mediated induction of γ-globin expression in K562 cells.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2012, v. 39, n. 6, p. 510, doi. 10.1111/j.1440-1681.2012.05702.x
- By:
- Publication type:
- Article
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 549, doi. 10.1007/s10038-007-0137-2
- By:
- Publication type:
- Article
The liver-derived exosomes stimulate insulin gene expression in pancreatic beta cells under condition of insulin resistance.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1303930
- By:
- Publication type:
- Article
Redefining the MED13L syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1308, doi. 10.1038/ejhg.2015.26
- By:
- Publication type:
- Article
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 331, doi. 10.1038/ejhg.2014.13
- By:
- Publication type:
- Article
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 416, doi. 10.1038/ejhg.2014.152
- By:
- Publication type:
- Article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
- Published in:
- 2022
- By:
- Publication type:
- journal article
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7019, doi. 10.1007/s12035-016-0202-y
- By:
- Publication type:
- Article
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 57, doi. 10.1038/nature10423
- By:
- Publication type:
- Article
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
- Published in:
- Cell Journal (Yakhteh), 2019, v. 21, n. 3, p. 337, doi. 10.22074/cellj.2019.6053
- By:
- Publication type:
- Article
Optimizing A Lipocomplex-Based Gene Transfer Method into HeLa Cell Line.
- Published in:
- Cell Journal (Yakhteh), 2013, v. 15, n. 4, p. 372
- By:
- Publication type:
- Article
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 12, p. 1711, doi. 10.15252/emmm.201708087
- By:
- Publication type:
- Article
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 115, doi. 10.1038/ejhg.2010.132
- By:
- Publication type:
- Article
Genetic male infertility and mutation of CATSPER ion channels.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108
- By:
- Publication type:
- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
- By:
- Publication type:
- Article
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 270, doi. 10.1038/sj.ejhg.5201967
- By:
- Publication type:
- Article
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
- Published in:
- Laryngoscope, 2009, v. 119, n. 4, p. 727, doi. 10.1002/lary.20116
- By:
- Publication type:
- Article
The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 451, doi. 10.1007/s10815-019-01660-1
- By:
- Publication type:
- Article
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 691, doi. 10.1002/ajmg.b.32648
- By:
- Publication type:
- Article
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 611, doi. 10.1111/cge.14491
- By:
- Publication type:
- Article
The prevalence and phenotypic range associated with biallelic PKDCC variants.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324
- By:
- Publication type:
- Article
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 187, doi. 10.1111/cge.13845
- By:
- Publication type:
- Article
A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 915, doi. 10.1111/cge.13730
- By:
- Publication type:
- Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
- By:
- Publication type:
- Article
Effect of inbreeding on intellectual disability revisited by trio sequencing.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 151, doi. 10.1111/cge.13463
- By:
- Publication type:
- Article
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
- Published in:
- Iranian Biomedical Journal, 2016, v. 20, n. 4, p. 201, doi. 10.7508/ibj.2016.04.003
- By:
- Publication type:
- Article
The First Case of BENTA Disease (B Cell Expansion with NF-κB and T Cell Anergy) from Iran.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Mutations in TMC1 Are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2010, v. 119, n. 12, p. 830, doi. 10.1177/000348941011901207
- By:
- Publication type:
- Article
Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
POLRMT mutations impair mitochondrial transcription causing neurological disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21279-0
- By:
- Publication type:
- Article
A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053826
- By:
- Publication type:
- Article
The PTRHD1 Mutation in Intellectual Disability.
- Published in:
- Archives of Iranian Medicine (AIM), 2021, v. 24, n. 10, p. 747, doi. 10.34172/aim.2021.110
- By:
- Publication type:
- Article
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
- Published in:
- Archives of Iranian Medicine (AIM), 2021, v. 24, n. 5, p. 364, doi. 10.34172/aim.2021.53
- By:
- Publication type:
- Article
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
- Published in:
- Archives of Iranian Medicine (AIM), 2020, v. 23, n. 12, p. 842, doi. 10.34172/aim.2020.112
- By:
- Publication type:
- Article
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
- Published in:
- Archives of Iranian Medicine (AIM), 2020, v. 23, n. 7, p. 426, doi. 10.34172/aim.2020.39
- By:
- Publication type:
- Article