Works matching IS 11108630 AND DT 2023 AND VI 24

Results: 85

Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion.

Published in:

2023

By:

Molina Herranz, David;
Moreno Sánchez, Amelia;
Carmen Marcén, Gema;
Salinas Salvador, Belén;
Pérez Delgado, Raquel;
Izquierdo Álvarez, Silvia

Publication type:

Case Study

Germline rad 50 mutation in a case with synchronous breast and kidney cancer: a rare case.

Published in:

2023

By:

Ilangovan, Bhargavi;
Raman, Ganapathy;
Mahajan, Vikas

Publication type:

Case Study

Evaluation of therapeutic potentials of some bioactive compounds in selected African plants targeting main protease (Mpro) in SARS-CoV-2: a molecular docking study.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00456-4

By:

Akinwumi, Ishola Abeeb;
Ishola, Barakat Olamide;
Adeyemo, Oluwatosin Maryam;
Owojuyigbe, Adefolarin Phebean

Publication type:

Article

Association of OXTR polymorphism (rs53576) with depression: a meta-analysis.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00454-6

By:

Eid, Moez;
Derevyanchuk, Ekaterina G.;
Butenko, Elena V.

Publication type:

Article

The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient's characteristics: relation to haematological parameters and patient outcome.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00460-8

By:

Attia, Hend;
Fouad, Dina Adel;
Samy, Heba

Publication type:

Article

Evaluation of the expression of the long non-coding RNAs, LOWEG and MINCR, and their clinical significance in human gastric cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00466-2

By:

Ghasemzadeh, Tooraj;
Rajabi, Ali;
MalekAbbaslou, Elaheh;
Najari, Parisa;
Akbarzadeh, Sama;
Tayefeh-Gholami, Samaneh;
Teimourian, Shahram;
Hosseinpourfeizi, MohammadAli;
Safaralizadeh, Reza

Publication type:

Article

Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00458-2

By:

Elderini, Esraa Elmorsi Abdelaziz;
ELTohamy, Amira Mohamed;
EL-Tagui, Mona Hassan;
Nassim, Mariam Saad

Publication type:

Article

STAT3 gene polymorphisms and susceptibility to breast cancer in the Moroccan population.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00465-3

By:

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

Publication type:

Article

Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00464-4

By:

Ehsani, Samira;
Mard‑Soltani, Maysam;
Ahmadpour, Fatemeh;
Shahsavari, Gholamreza

Publication type:

Article

A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00463-5

By:

Conde-Rubio, Paula;
García-Malinis, Ana Julia;
Salvador-Rupérez, Elvira;
Izquierdo Álvarez, Silvia;
González-Tarancón, Ricardo

Publication type:

Article

B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves' disease in Iraqi women.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00455-5

By:

Ibrahim, Hiba Y.;
Sulaiman, Ghassan M.;
Ad'hiah, Ali H.;
Al-shammaa, Mohamed S.

Publication type:

Article

Effect of oxidative stress-related genetic variants: "Explicating the role of reactive oxygen species influenced antioxidant gene polymorphism," a risk stratification of type 2 diabetes mellitus-associated nephropathy: a systematic review.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00459-1

By:

Begum, Farhana;
Lakshmanan, Karpagavel

Publication type:

Article

Association of ABCA1 gene with Coronary Artery Disease (CAD): an overview.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00440-y

By:

Yadav, Tanu;
Yadav, Arti;
Jafri, Asif;
Swaroop, Suchit

Publication type:

Article

Effect of hydroxyurea on SP1, LIN28B, IGF2BP3, COL4A5, BCL2, gamma globin genes expression: an in vitro study.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00452-8

By:

Fashami, Akram Agha-Amini;
Alemzadeh, Esmat;
Safarpour, Hossein;
Miri-Moghaddam, Ebrahim

Publication type:

Article

Association of ADAM33 gene with COPD pathophysiology: a case–control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00438-6

By:

Soomro, Tahmina;
Mallah, Manthar Ali;
Nisa, Zaka Un;
Asim, Naeem;
Aslam, Reema;
Kafle, Akriti;
Khatoon, Nafeesa

Publication type:

Article

Identification of the cuproptosis-related ceRNA network and risk model in acute ischemic stroke by integrated bioinformatics analysis.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00457-3

By:

Jia, Fang;
Zhang, Bingchang;
Li, Chongfei;
Yu, Weijie;
Li, Zhangyu;
Wang, Zhanxiang

Publication type:

Article

Effect of Dioscorea extract on Bax and Bcl-2 gene expression in MCF-7 and HFF cell lines.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00450-w

By:

Bojar Doulaby, Fatemeh;
Kavousi, Mahsa;
Jamshidian, Faranak

Publication type:

Article

The role of miRNA20a and miRNA320 in Iraqi patients with COVID-19: a case–control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00451-9

By:

Abed, Reema Mohammed;
Abdulmalek, Hadeel Waleed;
Yaaqoob, Laith Ahmad

Publication type:

Article

In silico analysis of missense SNPs in GABRA1, GABRB1, and GABRB3 genes associated with some diseases in neurodevelopmental disorders.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00446-6

By:

Manaz, Mehmet;
Karasakal, Ömer Faruk;
Özkan Oktay, Ebru;
Karahan, Mesut

Publication type:

Article

A meta-analysis and review on genetic mapping of type 2 diabetes mellitus in Iraq.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00448-4

By:

Musafer, Karar N. J.;
Rava, Mohammad;
Chobok, Ali Sabah;
Shamsuddin, Shaharum;
Al-Mousawi, Masar Riyadh Rashid;
Hayup, Fahrul

Publication type:

Article

Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00441-x

By:

Sahin, Ibrahim;
Kandemir, Nefise;
Saat, Hanife

Publication type:

Article

Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00444-8

By:

Ghazi-Nader, Donya;
Karimi, Behnam;
Alibakhshi, Reza;
Ganji, Maziar

Publication type:

Article

FAM72D in plasma cell myeloma: a friend or enemy.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00439-5

By:

Ahmed, Riham Ahmed Ramadan;
Fayek, Manal Hashem Ahmed;
Eissa, Doaa Ahmed Gamal;
Moussa, Mohammed Mahmoud;
Hassan, Noha Bassiouny;
Salem, Dalia Diaa ElDine

Publication type:

Article

Metformin reduces the cellular DNA repair capacity and enhances the effect of curcumin on the induction of apoptosis in AGS gastric cancer cells.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00445-7

By:

Zarei, Ehsan;
Saadat, Iraj

Publication type:

Article

Integrative bioinformatics analysis of miRNA and mRNA expression profiles identified some potential biomarkers for breast cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00443-9

By:

Rezaeijo, Seyed Masoud;
Rezaei, Monireh;
Poursheikhani, Arash;
Mohammadkhani, Shima;
Goharifar, Naieme;
Shayankia, Ghazal;
Heydarheydari, Sahel;
Saberi, Alihossein;
Taghizadeh, Eskandar

Publication type:

Article

Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00442-w

By:

Karakaya, Taner;
Kocaaga, Ayca

Publication type:

Article

A glance on Immunogenetics Laboratory: from the origins to the future.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00447-5

By:

Madalese, Donato;
Casalino, Rosaria;
Auriemma, Laura;
Colucci, Rosa;
Di Maio, Antonio;
Tambaro, Francesco Paolo;
de Vera d'Aragona, Roberta Penta

Publication type:

Article

Allelic variation in TUSC1 gene: rs1462218557 is associated with male infertility and azoospermia.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00430-0

By:

Vahidi Emami, Zahra;
Sheidai, Masoud;
Kalhor, Naser

Publication type:

Article

Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00433-x

By:

Samarasinghe, Saumya Madushani;
Hewage, Asanka Sudeshini;
Siriwardana, Rohan Chaminda;
Tennekoon, Kamani Hemamala;
Niriella, Madunil Anuk;
De Silva, Sumadee

Publication type:

Article

Higher incidence of co-expression of BCR-ABL fusion transcripts in an Eastern Indian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00435-9

By:

Kumar, Ajeet;
Mishra, Vatsal;
Singh, Chandra Bhan;
Patel, Rashmi;
Samrat, Siddharth;
Rai, Madhukar;
Kumar, Nilesh;
Tilak, Vijay;
Gupta, Vineeta;
Ali, Akhtar

Publication type:

Article

Investigating the importance of EGFR (− 216G/T), Exo1 (K589E) and LEP (− 2548G/A) gene polymorphisms with risk of lung cancer as potential diagnostic biomarker in Iranian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00436-8

By:

Pezeshki, Milad;
Hosseini, Sayed Mostafa;
Ansari, Jamshid;
Ahmadi, Azam

Publication type:

Article

Characterization of blaTEM and blaCTX-M beta-lactam resistance genes in chronic rhinosinusitis.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00424-y

By:

Arian Nejad, Mojdeh;
Sabaei, Milad;
Ahmadi, Alireza;
Minaeian, Sara;
Amin Panah, Danesh;
Mozahheb Yousefi, Kimia

Publication type:

Article

First application of next-generation sequencing in four families with Wilson disease in Morocco.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00437-7

By:

Sahli, Maryem;
Zrhidri, Abdelali;
El Kadiri, Youssef;
Cherkaoui Jaouad, Imane;
Meskini, Toufik;
Sefiani, Abdelaziz

Publication type:

Article

The role of miRNA-29b1, MMP-2, MMP-9 mRNAs, and proteins in early diagnosis of HCC.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00434-w

By:

Abdel-Tawab, Marwa Sayed;
Fouad, Hanan;
Khalil, Doaa Mahmoud;
Shaaban, Saeed;
Nafady, Shaymaa;
Moawad, Hanan Hosni;
Mostafa, Heba Ahmed;
Abdel-Salam, Soha Mahmoud;
Elazeem, Naglaa Adly Abd;
Mohamed, Alaa A.

Publication type:

Article

Integrated structure model-based virtual screening approaches identified anti-cancer agents against prostate cancer by targeting MAOB protein.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00431-z

By:

Molla, Mohammad Habibur Rahman;
Asseri, Amer H.;
Islam, Md. Shafiqul

Publication type:

Article

Association of angiotensin-converting enzyme I/D polymorphism and apolipoprotein B with cardiometabolic abnormalities among young adults: a pilot study from Delhi.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00432-y

By:

Suokhrie, Seyielenuo;
Chaudhary, Vineet;
Mishra, Sumit;
Murry, Benrithung;
Devi, Naorem Kiranmala

Publication type:

Article

The contribution of FTO rs9939609 and RETN rs1862513 polymorphisms in predisposing resettled indigenous (Orang Asli) Temiar to metabolic syndrome.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00425-x

By:

Harun, Nur Sakinah;
Wan Jusoh, Azizul Fadzli;
Rohin, Mohd Adzim Khalili;
Yahaya, Rosliza;
Nik Him, Nik Ahmad Shaifuddin;
Zahary, Mohd Nizam

Publication type:

Article

An exploratory pharmacogenetic screening of SLC22A6, SLC22A8, ABCC4 and ABCC10 genes in a cohort of Ghanaian HBV patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00428-8

By:

Thomford, Nicholas Ekow;
Adu, Faustina;
Gavor-Kwashi, Cyril;
Nyarko, Samuel Badu;
Nsiah, Paul;
Ephraim, Richard Dadzie;
Adjei, George;
Anyanful, Akwasi

Publication type:

Article

Investigation of HER2 I655V and PHB 3′UTR C > T polymorphisms in azoospermic infertile males.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00422-0

By:

Yildiz, Irem;
Karakus, Nevin;
Erdemir, Fikret

Publication type:

Article

Comments on: rs3761548 (C/A) and rs5902434 (del/ATT) polymorphisms of Foxp3 gene in Iranian patients with migraine.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00429-7

By:

Saadat, Mostafa

Publication type:

Article

Association of serum miR-375, miR-155 and miR-146b levels with distinguish of papillary thyroid cancer from benign thyroid masses among Iranian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00427-9

By:

Mobini, Gholam-Reza;
Yousefi, Homayon;
Shojaeian, Ali;
Mirhoseini, Mahmood;
Mahmoudian-Sani, Mohammad-Reza

Publication type:

Article

A computational analysis reveals eight novel high-risk single nucleotide variants of human tumor suppressor LHPP gene.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00426-w

By:

Feroz, Tasmiah;
Islam, Md. Kobirul

Publication type:

Article

The study of long noncoding RNA TUG 1 and ZEB2-AS1 expression in newly diagnosed Egyptian adult acute myeloid leukemia patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, p. 1, doi. 10.1186/s43042-023-00423-z

By:

Abdelrahman, Amira Mohamed Noureldin;
Diab, Safia Mohammed;
Shabaan, Howyda Moh. Kamal;
Ahmed, Mai Nasser Abdelmomen;
Nabil, Reem

Publication type:

Article

Knowledge of genetics of hearing and genetic counseling among practicing audiologists.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00417-x

By:

Madhu, Harini;
Harinath, Sathya;
Parvathi, Venkatachalam Deepa

Publication type:

Article

Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00416-y

By:

El Kadiri, Youssef;
Ratbi, Ilham;
Ouhenach, Mouna;
Chafai Elalaoui, Siham;
Cherkaoui Jaouad, Imane;
Zrhidri, Abdelali;
Sahli, Maryem;
Birouk, Nazha;
Sefiani, Abdelaziz;
Lyahyai, Jaber

Publication type:

Article

Correction: Relationship between expression levels of TDRD7 and CRYBB3 and development of age-related cortico-nuclear cataracts.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00406-0

By:

Yildiz, Saliha Handan;
Karaosmanoğlu, Cem;
Duman, Rahmi;
Varol, Nuray;
Erdoğan, Müjgan Özdemir;
Solak, Mustafa;
Duman, Reşat;
Elmas, Muhsin

Publication type:

Article

The role of miRNAs in the diagnosis and treatment of male infertility: a review study.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00419-9

By:

Sinaei, Roya;
Jamebozorgi, Khosro;
Mirshekarpour, Hossein;
Poormasoumi, Hossein;
Mahdizadeh, Amirhossein;
Akbari, Zahra;
Taghizadeh, Eskandar

Publication type:

Article

Understanding polycystic ovary syndrome in light of associated key genes.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00418-w

By:

Bhimwal, Tanisha;
Puneet;
Priyadarshani, Anjali

Publication type:

Article

Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2.

Published in:

2023

By:

Neissi, Mostafa;
Al-Badran, Adnan Issa

Publication type:

Case Study

Genetic tool used to diagnose achromatopsia: first case report from India.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00420-2

By:

Pritti, Kumari;
Mishra, Vineet;
Kotecha, Udhaya;
Aggarwal, Somesh

Publication type:

Article