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Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers.
- Published in:
- Therapeutic Advances in Respiratory Disease, 2024, p. 1, doi. 10.1177/17534666241253990
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- Publication type:
- Article
Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.
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- Iranian Biomedical Journal, 2023, v. 27, n. 6, p. 397, doi. 10.61186/ibj.3782
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- Article
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
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- Iranian Biomedical Journal, 2023, v. 27, n. 5, p. 307, doi. 10.61186/ibj.27.5.307
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- Article
Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
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- Molecular Genetics & Genomics, 2023, v. 298, n. 4, p. 905, doi. 10.1007/s00438-023-02023-3
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- Article
Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1140034
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- Article
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
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- Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00281-0
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- Article
Aberrant promoter hypermethylation of miR-335 and miR-145 is involved in breast cancer PD-L1 overexpression.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27415-8
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- Article
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
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- Human Mutation, 2022, v. 43, n. 12, p. 1706, doi. 10.1002/humu.24434
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- Article
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series.
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- International Journal of Reproductive Biomedicine, 2022, v. 20, n. 12, p. 1047, doi. 10.18502/ijrm.v20i12.12567
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- Article
Development of a genetic risk score for obesity predisposition evaluation.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 6, p. 1495, doi. 10.1007/s00438-022-01923-0
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- Article
Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis.
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- Iranian Biomedical Journal, 2022, v. 26, n. 5, p. 398, doi. 10.52547/ibj.3713
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- Article
Ichthyosis follicularis syndromes in patients with mutations in GJB2.
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- Clinical & Experimental Dermatology, 2022, v. 47, n. 8, p. 1561, doi. 10.1111/ced.15217
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- Article
Induction of apoptosis and cell cycle arrest in colorectal cancer cells by novel anticancer metabolites of Streptomyces sp. 801.
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- Cancer Cell International, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12935-022-02656-1
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- Article
Induction of apoptosis and cell cycle arrest in colorectal cancer cells by novel anticancer metabolites of Streptomyces sp. 801.
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- Cancer Cell International, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12935-022-02656-1
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- Publication type:
- Article
A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran.
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- 2022
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- journal article
Efficacy and antitumor activity of a mutant type of interleukin 2.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09278-7
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- Article
Human IL-2Rɑ subunit binding modulation of IL-2 through a decline in electrostatic interactions: A computational and experimental approach.
- Published in:
- PLoS ONE, 2022, v. 18, n. 2, p. 1, doi. 10.1371/journal.pone.0264353
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- Article
The role of miRNA-377 as a tumor suppressor in lung cancer by negative regulation of genes belonging to ErbB signaling pathway.
- Published in:
- Molecular Biology Reports, 2022, v. 49, n. 1, p. 85, doi. 10.1007/s11033-021-06844-6
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- Article
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
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- Archives of Iranian Medicine (AIM), 2021, v. 24, n. 12, p. 887, doi. 10.34172/aim.2021.133
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- Article
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
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- 2021
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- journal article
Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 11, p. 2281, doi. 10.1007/s12031-020-01789-0
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- Article
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis.
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- Iranian Biomedical Journal, 2021, v. 25, n. 5, p. 359, doi. 10.52547/ibj.25.5.359
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- Article
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis.
- Published in:
- 2021
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- Publication type:
- journal article
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 6, p. 876, doi. 10.1093/clinchem/hvab042
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- Article
Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
- Published in:
- 2021
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- Publication type:
- journal article
Association of xenobiotic-metabolizing enzymes (GSTM1 and GSTT 1), and pro-inflammatory cytokines (TNF-α and IL-6) genetic polymorphisms with non-alcoholic fatty liver disease.
- Published in:
- Molecular Biology Reports, 2021, v. 48, n. 2, p. 1225, doi. 10.1007/s11033-021-06142-1
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78344-9
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- Publication type:
- Article
Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
- Published in:
- Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.14493
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- Article
A large deletion, spanning exons 1 to 25 of F8 gene, and a high‐titer factor VIII inhibitor, in severe hemophilia A.
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- International Journal of Laboratory Hematology, 2020, v. 42, n. 3, p. e138, doi. 10.1111/ijlh.13174
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- Article
Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 906, doi. 10.1002/humu.23980
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- Article
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01016-y
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- Article
Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation.
- Published in:
- 2020
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- Case Study
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
- Published in:
- 2020
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- Publication type:
- journal article
Biosimilar Gene Therapy: Investigational Assessment of Secukinumab Gene Therapy.
- Published in:
- Cell Journal (Yakhteh), 2020, v. 21, n. 4, p. 433, doi. 10.22074/cellj.2020.6309
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- Article
Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1029
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- Publication type:
- Article
Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.975
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- Publication type:
- Article
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1118, doi. 10.1111/exd.13501
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- Article
Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 5, p. 1447, doi. 10.1007/s11011-019-00434-z
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- Article
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.
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- Metabolic Brain Disease, 2019, v. 34, n. 4, p. 1145, doi. 10.1007/s11011-019-00435-y
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- Publication type:
- Article
Endometriotic Mesenchymal Stem Cells Epigenetic Pathogenesis: Deregulation of miR-200b, miR-145, and let7b in A Functional Imbalanced Epigenetic Disease.
- Published in:
- Cell Journal (Yakhteh), 2019, v. 21, n. 2, p. 179, doi. 10.22074/cellj.2019.5903
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- Publication type:
- Article
SLC26A4 Pathogenic Variants as a Third Cause of Hearing Loss: Role of Three Exons in DFNB4 Deafness in Iran.
- Published in:
- Indian Journal of Otology, 2019, v. 25, n. 3, p. 146, doi. 10.4103/indianjotol.INDIANJOTOL_36_19
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- Publication type:
- Article
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
- Published in:
- Clinical Infectious Diseases, 2019, v. 68, n. 11, p. 1938, doi. 10.1093/cid/ciy942
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- Publication type:
- Article
Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS cases.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43892-2
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- Article
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families.
- Published in:
- 2019
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- Publication type:
- journal article
Improvement of K562 Cell Line Transduction by FBS Mediated Attachment to the Cell Culture Plate.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/9540702
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- Publication type:
- Article
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 288, doi. 10.1002/humu.23695
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- Publication type:
- Article
Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population.
- Published in:
- Turkish Journal of Medical Sciences, 2019, v. 49, n. 2, p. 453, doi. 10.3906/sag-1805-43
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- Publication type:
- Article
A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
- Published in:
- Human Mutation, 2019, v. 40, n. 2, p. 217, doi. 10.1002/humu.23686
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- Publication type:
- Article
A Proposed Model to Establish the PGD Technique for Carriers of BRCA1/2 Gene Mutations in a Diagnostic Laboratory.
- Published in:
- Basic & Clinical Cancer Research, 2019, v. 11, n. 1, p. 16
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- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
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- Publication type:
- Article