Works matching IS 11108630 AND DT 2022 AND VI 23

Results: 170

Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00374-x

By:

Méndez-Rosado, Luis A.;
de León-Ojeda, Norma;
García, Alina;
Sheth, Frenny;
Gaadi, Asmaa;
Bousfiha, Ahmed Aziz;
Lehlimi, Mouna;
Natiq, Abdelhafid;
Kurinnaia, Oxana S.;
Vorsanova, Svetlana G.;
Iourov, Ivan;
Huhle, Dagmar;
Liehr, Thomas

Publication type:

Article

Correction: Autophagy-related genes in Egyptian patients with Behçet's disease.

Published in:

2022

By:

Saleh, Doaa N.;
Ramadan, Abeer;
Mohammed, Rania Hassan;
Alnaggar, Alshaimaa Rezk L. R.;
Saleh, Eman M.

Publication type:

Correction Notice

Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report.

Published in:

2022

By:

Nekouei, Elaheh;
Yancheshmeh, Elmira Shokrolahi;
Mohammadi-Asl, Javad;
Moghaddam, Zafar Maasoumi

Publication type:

Case Study

Interactions dietary components with expression level of breast cancer-related genes.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00375-w

By:

Bourbour, Fatemeh;
Pourtaheri, Azam;
Abbasi, Khadijeh;
Hasanpour Ardekanizadeh, Naeemeh;
Gholamalizadeh, Maryam;
Hajipour, Azadeh;
Abdollahi, Sepideh;
Bagheri, Seyedeh Elaheh;
Ahmadzadeh, Mina;
Doaei, Saeid;
Haghighian, Arezoo

Publication type:

Article

TMPRSS6 rs855791 polymorphism is associated with iron deficiency in a cohort of Sri Lankan pregnant women.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00377-8

By:

Abeywickrama, Halinne Lokuge Thilakshi Chamanika;
Rabindrakumar, Miruna Sudharshani Kalaimani;
Pathira Kankanamge, Lakindu Samaranayake;
Thoradeniya, Tharanga;
Galhena, Gayani Harendra

Publication type:

Article

Association of methylation status of ABCA1/G1 genes with the risk of coronary artery disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00381-y

By:

Mansouri, Elaheh;
Esmaeili, Fataneh;
Montaseri, Maryam;
Emami, Mohammad Amin;
Koochakkhani, Shabnaz;
Khayatian, Mahmood;
Zarei, Hasan;
Turki, Habibollah;
Eftekhar, Ebrahim

Publication type:

Article

The HLA profile and genetic affinities of three primitive Tamil-speaking endogamous groups: Kallars of Thanjavur, Piramalai Kallar and Vanniyar.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00378-7

By:

Raju, Kamaraj;
Karuppiah, Balakrishnan;
Chinniah, Rathika

Publication type:

Article

Selection hub MicroRNAs as biomarkers in breast cancer stem cells in extracellular matrix using bioinformatics analyses.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00359-w

By:

Shirinsokhan, Armaghan;
Azarmehr, Zahra;
Jalili, Arsalan;
Sadrabadi, Amin Ebrahimi;
Partan, Arman Saadati;
Tutunchi, Sara;
Bereimipour, Ahmad

Publication type:

Article

Association of the ANGPTL3 gene polymorphisms and haplotypes with cardiovascular diseases in Birjand longitudinal aging study (BLAS).

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00366-x

By:

Poursalehi, Forough;
Aghasizadeh, Malihe;
Ghorbanzadeh, Somaye;
heydari, Farzaneh;
Kazemi, Tooba;
Sharifi, Farshad;
Moodi, Mitra;
Fakrzadeh, Hossen;
Miri-Moghaddam, Ebrahim

Publication type:

Article

A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome.

Published in:

2022

By:

Arowolo, Afolake;
Rhoda, Cenza;
Mbele, Mzwandile;
Oluwole, Oluwafemi G.;
Khumalo, Nonhlanhla

Publication type:

Case Study

Genetic variation in toll-like receptor 4 gene with primary antiphospholipid syndrome susceptibility: a cohort of Egyptian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00363-0

By:

Mahdy, Sara H.;
Abd Elkader, Nour M.;
Kassim, Nevine A.;
ElHady, Mostafa M.

Publication type:

Article

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00362-1

By:

Mohd Atan, Farah Nur Elina;
Wan Mohd Saman, Wan Asmuni;
Kamsani, Yuhaniza Shafinie;
Khalid, Zalizah;
Abdul Rahman, Amirah

Publication type:

Article

Genetic diversity of Plasmodium falciparum isolates in Nigeria. A review.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00340-7

By:

Opute, Augusta Onyebuchi;
Akinkunmi, Joseph Adebowale;
Funsho, Abdulsalam Olalekan;
Obaniyi, Adebobola Kehinde;
Anifowoshe, Abass Toba

Publication type:

Article

Dipyridamole and adenosinergic pathway in Covid-19: a juice or holy grail.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00354-1

By:

Al-kuraishy, Hayder M.;
Al-Gareeb, Ali I.;
Elekhnawy, Engy;
Batiha, Gaber El-Saber

Publication type:

Article

Dietary total antioxidant capacity interacts with a variant of chromosome 5q13-14 locus to influence cardio-metabolic risk factors among obese adults.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00328-3

By:

Khodarahmi, Mahdieh;
Sobhrakhshan Khah, Amir;
Farhangi, Mahdieh Abbasalizad;
Siri, Goli;
Kahroba, Houman

Publication type:

Article

Evaluation of interleukin 10, interleukin 1-beta, and tumor necrosis factor-alpha gene polymorphisms in patients with periodontitis and healthy controls.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00371-0

By:

Saremi, Leila;
Shafizadeh, Marziyeh;
Ghaffari, Mohammad Ebrahim;
Aliniagerdroudbari, Ehsan;
Amid, Reza;
Kadkhodazadeh, Mahdi

Publication type:

Article

MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00373-y

By:

Hassan, Heba A.;
Fahmy, Nagia A.;
El-Bagoury, Nagham M.;
Eissa, Noura R.;
Sharaf-Eldin, Wessam E.;
Issa, Mahmoud Y.;
Zaki, Maha S.;
Essawi, Mona L.

Publication type:

Article

Intermittent white noise exposure is associated with rat cochleae damage and changes in the gene expression.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00317-6

By:

Hotkani, Maryam Mirzaei;
Esmaeilpoor, Mohammad Reza Monazzam;
Khadem, Monireh;
Garmaroudi, Amir Abbasi;
Inanloorahatloo, Kolsoum

Publication type:

Article

Investigating expressed RNA variants that are related to disease severity in SARS-CoV-2-infected patients with mild-to-severe disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00299-5

By:

Okendo, Javan;
Okanda, David

Publication type:

Article

A study of the genotyping and vascular endothelial growth factor polymorphism differences in diabetic and diabetic retinopathy patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00277-x

By:

Wagih, Sara;
Hussein, Manal M.;
Rizk, Kareem A.;
Abdel Azeem, Amira A.;
El-Habit, Ola H.

Publication type:

Article

Autophagy-related genes in Egyptian patients with Behçet's disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00367-w

By:

Saleh, Doaa;
Ramadan, Abeer;
Mohammed, Rania Hassan;
Alnaggar, Alshaimaa Rezk L. R.;
Saleh, Eman M.

Publication type:

Article

Explore the distribution of (rs35742686, rs3892097 and rs1065852) genetic polymorphisms of cytochrome P4502D6 gene in the Moroccan population.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00369-8

By:

El Akil, Soumaya;
Elouilamine, Ezohra;
Ighid, Nassima;
Izaabel, El Hassan

Publication type:

Article

An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome.

Published in:

2022

By:

Oro, Maria;
Tarsitano, Marina;
Rivieccio, Maria;
Piscopo, Carmelo;
Petti, Maria Teresa;
Bukvic, Nenad;
Della Monica, Matteo;
Chetta, Massimiliano

Publication type:

Case Study

Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00364-z

By:

Pritti, Kumari;
Mishra, Vineet;
Patel, Hetvi;
Patel, Kushani;
Aggarwal, Rohina;
Choudhary, Sumesh

Publication type:

Article

Mutational analysis of phospholipase C epsilon 1 gene in Egyptian children with steroid-resistant nephrotic syndrome.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00353-2

By:

Abdou, Mohammed;
Ramadan, Abeer;
El-Agamy, Basma E.;
EL-Farsy, Mohamed S.;
Saleh, Eman M.

Publication type:

Article

A new insight into the diverse facets of microRNA-31 in oral squamous cell carcinoma.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00361-2

By:

Kavitha, M.;
Jayachandran, D.;
Aishwarya, S. Y.;
Md. Younus, P.;
Venugopal, A.;
Suresh Babu, H. W.;
Ajay, E.;
Sanjana, M.;
Arul, N.;
Balachandar, V.

Publication type:

Article

Implication of single nucleotide polymorphisms in Interleukin-10 gene (rs1800896 and rs1800872) with severity of COVID-19.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00344-3

By:

Rizvi, Saliha;
Rizvi, S. Mohd.Shiraz;
Raza, Syed Tasleem;
Abbas, Mohd.;
Fatima, Kaynat;
Zaidi, Zeashan H.;
Mahdi, Farzana

Publication type:

Article

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00356-z

By:

Abarca-Barriga, Hugo H.;
Chavesta Velásquez, Felix;
Punil Luciano, Renzo

Publication type:

Article

A systems biology approach for investigating significantly expressed genes among COVID-19, hepatocellular carcinoma, and chronic hepatitis B.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00360-3

By:

Sokouti, Babak

Publication type:

Article

Polymorphisms of nicotinic acetylcholine receptors in Alzheimer's disease: a systematic review and data analysis.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00357-y

By:

Mohammadi, Solmaz;
Mahmoudi, Javad;
Farajdokht, Fereshteh;
Asadi, Milad;
Pirsarabi, Parya;
Kazeminiaei, Seyedeh Farrokh;
Parvizpour, Sepideh;
Sadigh-Eteghad, Saeed

Publication type:

Article

Biomarker potential of the GRP78 cell-free RNA in endometrial cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00355-0

By:

Aynekin, Busra;
Akalin, Hilal;
Muderris, I. Ipek;
Acmaz, Gokhan;
Akgun, Hulya;
Şahin, Izem Olcay;
Gokce, Nuriye Coşkun;
Alzaidi, Zahraa;
Erturk Zararsiz, Gözde;
Ozkul, Yusuf;
Dundar, Munis;
Saatci, Çetin

Publication type:

Article

Pathway analysis of sepsis-induced changes gene expression.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00352-3

By:

Elbakkoush, Abdallah Ahmed;
Khaleel, Anas;
Mohamed, Albakush Nura Ahmed;
Alathamneh, Ahmad

Publication type:

Article

In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00351-4

By:

Khamooshian, Sahand;
Kazeminia, Mohsen;
Moradi, Keivan

Publication type:

Article

Association of Interleukin 6 and Interleukin 8 genes polymorphisms with house dust mite-induced nasal-bronchial allergy in a sample of Indian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00348-z

By:

Dey, Debarati;
Mondal, Priti;
Moitra, Saibal;
Saha, Goutam Kumar;
Podder, Sanjoy

Publication type:

Article

Computational analysis of G-protein-coupled receptor kinase family members as potential targets for colorectal cancer therapy.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00349-y

By:

Hermawan, Adam;
Putri, Herwandhani

Publication type:

Article

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.

Published in:

2022

By:

El-Amawy, Heba Saed;
Dawoud, Heba

Publication type:

Case Study

Genetics of type 2 diabetes mellitus in Indian and Global Population: A Review.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00346-1

By:

Joseph, Anjaly;
Thirupathamma, Maradana;
Mathews, Elezebeth;
Alagu, Manickavelu

Publication type:

Article

Interleukin-1 receptor antagonist (IL-1RA) and interleukin-4 (IL-4) variable number of tandem repeat polymorphisms in schizophrenia and bipolar disorder: an association study in Turkish population.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00341-6

By:

Pehlivan, Sacide;
Oyaci, Yasemin;
Tuncel, Fatima Ceren;
Aytac, Hasan Mervan

Publication type:

Article

Implications of mitochondrial DNA variants in pediatric B-cell acute lymphoblastic leukemia.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00347-0

By:

Jain, Ayushi;
Katiyar, Amit;
Singh, Ritika;
Bakhshi, Sameer;
Singh, Harpreet;
Palanichamy, Jayanth Kumar;
Singh, Archna

Publication type:

Article

Association of primary knee osteoarthritis with DVWA SNP in a group of Egyptian population: a case–control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00336-3

By:

Mostafa, Noha Abdelhady Abdelsadek;
Ibrahim, Ibrahim Khalil;
Mikhael, Neveen Lewis;
Saba, Emmanuel Kamal Aziz

Publication type:

Article

A genetic study of the association of six polymorphisms with rheumatoid arthritis in the Egyptian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00343-4

By:

Ibrahim, Alaa M.;
Hassan, Nada M.;
Saad, Mohamed N.;
Mabrouk, Mai S.;
Shaker, Olfat G.

Publication type:

Article

Decreased cell proliferation and induced apoptosis in human B-chronic lymphocytic leukemia following miR-221 inhibition through modulation of p27 expression.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00345-2

By:

Ashrafi Dehkordi, Korosh;
Asadi-Samani, Majid;
Shojaeian, Ali;
Mahmoudian-Sani, Mohammad-Reza

Publication type:

Article

Telomere attrition and inflammation: the chicken and the egg story.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00335-4

By:

Niveta, J. P. Shirley;
Kumar, M. Anup;
Parvathi, Venkatachalam Deepa

Publication type:

Article

Evaluation of miRNA-21 and CA-125 as a promising diagnostic biomarker in patients with ovarian cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00342-5

By:

Talaat, Aliaa;
Helmy, Mohamed A.;
Saadawy, Sara F.

Publication type:

Article

Consanguinity in the Chaouia population (Morocco): prevalence, trends, determinants, fertility, and spontaneous abortions.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00337-2

By:

Cheffi, Khadija;
Dahbi, Noura;
El Khair, Abderrazak;
Stambouli, Hamid;
Elbouri, Aziz;
Talbi, Jalal;
Hilali, Abderraouf;
El Ossmani, Hicham

Publication type:

Article

Evaluation of miRNA-21 and CA-125 as a promising diagnostic biomarker in patients with ovarian cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, p. 1, doi. 10.1186/s43042-022-00342-5

By:

Talaat, Aliaa;
Helmy, Mohamed A.;
Saadawy, Sara F.

Publication type:

Article

Influence of CYP2D6, CYP2C19 and CYP3A5 polymorphisms on plasma levels of tamoxifen metabolites in Algerian women with ER<sup>+</sup> breast cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00332-7

By:

Boucenna, Amira;
Boudaoud, Khadidja;
Hireche, Ahmed;
Rezgoune, Mohamed Larbi;
Abadi, Noureddine;
Filali, Taha;
Satta, Dalila

Publication type:

Article

Prognostic Potential of RDW in Discriminating Hemoglobinopathies among Patients reporting to Aga Khan Hospital, Kisumu.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00334-5

By:

Mutua, Benard;
Sowayi, George;
Okoth, Patrick

Publication type:

Article

Association of factor V Leiden R506Q, FXIIIVal34Leu, and MTHFR C677T polymorphisms with acute myocardial infarction.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00330-9

By:

Golestani, Amin;
Rahimi, Atefeh;
Moridi, Nastaran;
Anani-Sarab, Gholamreza;
Salmani, Fatemeh;
Dastjerdi, Kazem;
Azdaki, Nahid;
Sajjadi, Seyed Mehdi

Publication type:

Article

Co-overexpression of self-renewal markers SALL4 and HIWI is correlated with depth of tumor invasion and metastasis in colorectal cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00333-6

By:

Forghanifard, Mohammad Mahdi;
Salehi, Somayeh

Publication type:

Article