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List of works by Said El Shamieh

A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C.

scientific article published on 2 December 2012

A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels

scientific article (publication date: 2012)

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

scientific article published on 9 November 2017

APOE genotypes in Lebanon: distribution and association with hypercholesterolemia and Alzheimer's disease

scientific article published on 20 November 2018

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

scientific article

Association between SNPs of Circulating Vascular Endothelial Growth Factor Levels, Hypercholesterolemia and Metabolic Syndrome

scientific article published on 11 August 2019

Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection

scientific article published on 11 January 2019

Cardiovascular diseases and genome-wide association studies

scientific article published on 07 June 2011

Cone dystrophy in patient with homozygous RP1L1 mutation.

scientific article published on 29 January 2015

Dataset on significant role of Candesartan on cognitive functions in rats having memory impairment induced by electromagnetic waves

Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report

scientific article published on 01 January 2020

Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy

scientific article published on 8 February 2018

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

scientific article

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

scientific article

Helicobacter Pylori interacts with Serum Vitamin D to influence Hypertension

scientific article published on 24 September 2020

Klotho KL-VS genotype is involved in blood pressure regulation

scientific article published on 01 June 2011

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

scientific journal article

MERTK mutations update in inherited retinal diseases.

scientific article published on 16 April 2018

Newly identified synergy between clopidogrel and calcium-channel blockers for blood pressure regulation possibly involves CYP2C19 rs4244285.

scientific article published on 3 May 2013

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes

scientific article published on 16 December 2019

Next generation sequencing and immuno-histochemistry profiling identify numerous biomarkers for personalized therapy of endometrioid endometrial carcinoma

scientific article published on 01 November 2017

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

scientific article

Next-generation sequencing reveals mutations in RB1, CDK4 and TP53 that may promote chemo-resistance to palbociclib in ovarian cancer

scientific article published on 30 May 2019

Novel Missense Mutations in Are Associated with Bestrophinopathies in Lebanese Patients

article

Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children

scientific article published on 01 April 2020

Peripheral blood mononuclear cells extracts VEGF protein levels and VEGF mRNA: Associations with inflammatory molecules in a healthy population

scientific article published on 16 August 2019

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

scientific article published on 30 September 2019

Pro- and anti-angiogenic VEGF mRNAs in autoimmune thyroid diseases.

scientific article

RICTOR gene amplification is correlated with metastasis and therapeutic resistance in triple-negative breast cancer

scientific article published on 23 May 2018

Relationship between catalase haplotype and arterial aging.

scientific article published on 8 January 2013

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

scientific article

The Association of rs1898830 in Toll-Like Receptor 2 with Lipids and Blood Pressure

scientific article published on 08 July 2020

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

scientific article

The genetics of rod-cone dystrophy in Arab countries: a systematic review

scientific article published on 13 November 2020

The rs3957357C>T SNP in GSTA1 Is Associated with a Higher Risk of Occurrence of Hepatocellular Carcinoma in European Individuals

scientific article

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

scientific article published on 04 November 2018

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

scientific article

rs2569190A>G in CD14 is Independently Associated with Hypercholesterolemia: A Brief Report

scientific article published on 30 October 2019

rs3851179G>A in PICALM is protective against Alzheimer's disease in five different countries surrounding the Mediterranean

scientific article published on 19 October 2019

rs622342 in SLC22A1, CYP2C9*2 and CYP2C9*3 and Glycemic Response in Individuals with Type 2 Diabetes Mellitus Receiving Metformin/Sulfonylurea Combination Therapy: 6-Month Follow-Up Study

scientific article published on 20 June 2020

rs622342A>C in SLC22A1 is associated with metformin pharmacokinetics and glycemic response

scientific article published on 01 November 2019

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