Works matching IS 1110-8630 AND VI 26 AND IP 1 AND DT 2025

Results: 112

Molecular epidemiology and genotype distribution of genital high-risk human papillomavirus among women in North–East India.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00744-1

By:

Ray, Jayanta;
Baidya, Jaharlal;
Paul, Dhruba P.;
Majumdar, Gautam;
Debbarma, Shiromani;
Sarkar, Atanu;
Chakma, Manidipa;
Barman, Manash P.;
Pattnaik, Matrujyoti;
Debnath, Ankita;
Nath, Sukanta

Publication type:

Article

Impact of cigarette smoking on neurotrophic factors: insight to BDNF, GDNF, and NGF alterations.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00679-7

By:

Miladpour, Behnoosh;
mohammadian, Farideh;
Alimardani, Parvaneh;
Mokhtari tabar, Mohammad Mahdi;
Khedri, Azam

Publication type:

Article

Unraveling hereditary breast cancer susceptibility: a systems biology approach on GEO datasets with functional genomic insights and implications for traditional Chinese medicine.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00742-3

By:

Amjad, Elham;
Sokouti, Babak

Publication type:

Article

Unveiling hepatitis B biomarkers through genomic network analysis.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00739-y

By:

Adikusuma, Wirawan;
Firdayani, Firdayani;
Irham, Lalu Muhammad;
Santri, Ichtiarini Nurullita;
Phiri, Yohane Vincent Abero;
Pitaloka, Dian Ayu Eka;
Chong, Rockie;
Sarasmita, Made Ary;
Satria, Rahmat Dani

Publication type:

Article

Pathogenic effects of telomerase reverse transcriptase (TERT) promoter mutations in nonalcoholic steatohepatitis (NASH) related hepatocellular carcinoma (HCC) and its potentials as a diagnostic biomarker.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00738-z

By:

Umar Liman, Usman;
Hawage, Asanka Sudeshini;
De Silva, Sumadee;
Samarasinghe, Saumya Madushani;
Tennekoon, Kamani Hemamala;
Siriwardana, Rohan Chaminda;
Niriella, Madunil Anuk

Publication type:

Article

Genetics of type 2 diabetes (T2D) in Malaysia: a review.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00736-1

By:

Mohd Redzuan, Nurul Humaira;
Sulaiman, Siti Aishah;
Abdul Murad, Nor Azian;
Ahmad, Norfazilah;
Lang, Chim C.;
Jamal, Rahman

Publication type:

Article

Novel co-occurrence of SLC26A4 and KCTD7 variants in a pediatric patient with syndromic hearing loss and myoclonic epilepsy.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00741-4

By:

Shariatmadari, Fakhreddin;
Kamal, Amir Mahdi Mohamadi;
Mobini, Arshia;
Bayat, Shiva;
Rezaei, Zahra;
Badv, Reza Shervin;
Mohammadi, Mahmoud;
Yousefimanesh, Hossein

Publication type:

Article

Characterization and identification of RET gene variations in children with Hirschsprung disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00675-x

By:

Singh, Ripudaman;
Dhiman, Shalini;
Panigrahi, Inusha;
Garg, Mahak;
Mahajan, J. K.

Publication type:

Article

Prevalence of BRCA1 gene mutations in female breast cancer patients in Mazandaran Province, Northern Iran.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00743-2

By:

Jangjou, Masoumeh;
Alipour, Majid;
Mofarrah, Ramin;
Alipour, Soroush

Publication type:

Article

Mitochondrial DNA HVRII (Poly-C) and HVRIII (Poly-CA) tandem repeat variation in the Koraga population.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00740-5

By:

Krishna, Swathy;
Sequeira, Jaison Jeevan;
Mustak, Mohammed S.;
Das, Ranajit

Publication type:

Article

Evaluation of different in silico tools for the assessment of deleterious variants in acute myeloid leukemia.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00734-3

By:

Qureshi, Wardah;
Irfan, Muhammad;
Khan, Ishtiaq Ahmad;
Shakeel, Muhammad

Publication type:

Article

A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00730-7

By:

Sadeghian, Ladan;
Hoseinzadeh, Marziyeh;
Pourreza, Mohammad reza;
Khalili, Saeed;
Fattahi, Najmeh;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00720-9

By:

Sadek, Abdelrahim A.;
Aladawy, Mohammed A.;
Magdy, Rofaida M.;
Fouad, Mohammed Fawzy;
Mansour, Tarek M. M.;
Gad, Eman Fathalla;
Abdelkreem, Elsayed

Publication type:

Article

From biogenesis to biomarkers: the role of piRNAs and PIWI proteins in cervical cancer and beyond.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00735-2

By:

Pratap, Pushpendra D.;
Raza, Syed Tasleem;
Ahmad, Sharique;
Rajput, Muneshwar

Publication type:

Article

Evaluation of the mutation profile detected in lung adenocarcinomas with different N status.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00733-4

By:

Akin, Dilara;
Kahraman Çetin, Nesibe;
Taşan, Sinan Can;
Erdoğdu, İbrahim Halil;
Meteoğlu, İbrahim

Publication type:

Article

Significant association of hyperandrogenism and insulin resistance with the epigenetic alterations in PPARG1 gene in granulosa cells of PCOS females.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00731-6

By:

Dashti, Zahra;
Razban, Vahid;
Fallahi, Jafar;
Parsanezhad, Mohammad ebrahim;
Mehdinejadiani, Shayesteh;
Ghasemi, Nasrin

Publication type:

Article

Genetic and epigenetic components involved in the crossroads of periodontitis and common cancer types associated with periodontitis.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00727-2

By:

Priyadharsini, Jayaseelan Vijayashree;
Pandi, Anitha;
Kannan, Balachander;
Paramasivam, Arumugam;
Gopalakrishnan, Sivakumar;
Anandhan, Anu Swedha

Publication type:

Article

Expression of GRK4 in hepatocellular carcinoma and its correlation with patient prognosis.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00732-5

By:

Luo, Yunxiu

Publication type:

Article

In silico study identifies hub genes and regulatory network associated with the pathogenesis of Japanese encephalitis virus.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00729-0

By:

Kumar, Arvind;
Chand, Gyanendra Bahadur;
Azad, Gajendra Kumar

Publication type:

Article

The comparison of IGFBP-5 expression level in Pancreatic ductal adenocarcinoma tumors and their normal adjacent tissues.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00728-1

By:

Ghate, Jafar Karim;
Tahmasebi, Parisa;
Gheysarzadeh, Ali;
Jamalvandi, Mina

Publication type:

Article

Polymorphism rs259983 of the ZNF831 gene is associated with the risk of anemia in pregnant women with gestational diabetes.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00723-6

By:

Karpova, Nataliia;
Dmitrenko, Olga;
Arshinova, Ekaterina;
Nurbekov, Malik

Publication type:

Article

Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00724-5

By:

Murugan, Manoranjani;
Musib, Sourav;
Vetriselvan, Yogesh;
Karthiga, Ilangovan;
Soccalingam, Artchoudane;
Samuel, Melissa Shaelyn;
Ganesh, Irisappan;
Ravikumar, Sambandam

Publication type:

Article

The causal association between temporomandibular joint disorders and eating disorders: a bidirectional two-sample mendelian randomization study.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00721-8

By:

Halboub, Esam;
Alhajj, Mohammed Nasser

Publication type:

Article

Homoplasmic m.591C >T variant in the mitochondrial MT-TF exhibits phenotypic heterogeneity: a family report.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00722-7

By:

Fan, Shanshan;
Wu, Aiwen;
Wang, Feilong;
Li, Jinliang

Publication type:

Article

Variants in SRY and NR5A1 Genes in Sri Lankan children with 46, XY disorders of sex development: insights into mutation spectrum and diagnostic potential.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00725-4

By:

Ferdinands, Daniel Sanjeev;
De Silva, Sumadee;
Hewage, Asanka Sudeshini;
Atapattu, Navoda

Publication type:

Article

ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00701-y

By:

Khaghani, Faeze;
Pourbadakhshan, Nafiseh;
Ghayoor Karimiani, Ehsan;
Ashrafzadeh, Farah;
Eshraghi, Peyman

Publication type:

Article

A novel NBN germline mutation as the likely inherited etiology of various cancer types in an Iranian family.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00719-2

By:

Sarmadi, Akram;
Adelian, Samaneh;
Nouri, Zahra;
Javanmard, Shaghayegh Haghjooy;
Omidzadeh, Rasoul;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Identification of a compound heterozygous mutation in GDAP1 gene in a consanguineous South Indian family with Charcot–Marie–Tooth (CMT) Disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00718-3

By:

Kirola, Laxmi;
Joshi, Deepika;
Chatterjee, Souradip;
Tapadia, Madhusudan;
Mukherjee, Ashim;
Mutsuddi, Mousumi

Publication type:

Article

Association of IL6 −174G > C and IL10 −1082A > G genetic polymorphisms with cervical insufficiency in the Turkish population.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00717-4

By:

Karakus, Nevin;
Gulucu, Selim;
Onal, Mesut;
Yildirim, Sumeyye

Publication type:

Article

Pathogenesis and genetics of celiac disease; a systematic review.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00713-8

By:

Ahmadzadeh, Alireza;
Rezaei-Tavirani, Mostafa

Publication type:

Article

TCF7L2 gene rs7903146 and rs12255372 polymorphism is not associated with gestational diabetes in Bangladeshi women.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00710-x

By:

Tofail, Tania;
Shifat, Siratul Kubra;
Amin, U. S. Mahzabin;
Hasan, Mashfiqul;
Salimullah, Md;
Hasanat, M. A.

Publication type:

Article

Factor V Leiden and MTHFR C677 T polymorphisms and inflammation markers in diabetic retinopathy patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00712-9

By:

Rahimi, Atefeh;
Moridi, Nastaran;
Sajjadi, Seyed Mehdi

Publication type:

Article

Dual insights into gastric cancer: expression analysis and prognostic relevance of glutathione peroxidases.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00709-4

By:

Zhang, Biyu;
Fu, Denggang

Publication type:

Article

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00700-z

By:

Boukhalfa, Yasmine;
Kraoua, Lilia;
Maazoul, Faouzi;
Zaroui, Jihène;
M'rad, Ridha

Publication type:

Article

Association of CCR2 and AGT gene variants with lipid profiles and cardiovascular risk factors in coronary artery disease patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00705-8

By:

Eba, Ale;
Raza, Syed Tasleem;
Ahmad, Bashir;
Afreen, Sheeba;
Srivastava, Sanchita;
Mahdi, Farzana;
Nag, Riya

Publication type:

Article

The Impact of Hydrogen Sulfide Regulatory Gene Alterations on Head and neck squamous cell carcinoma prognosis and tumor microenvironment.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00715-6

By:

Ghouse, Mohamed Rizwan;
Egambaram, Santhakumar;
Ramachandran, Arunkumar;
Parsanathan, Rajesh

Publication type:

Article

Radiogenomic-based prediction of genetic alterations in oncogenic signaling pathways in lung cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00711-w

By:

Jayachandran, Priyadharshini;
Murugesan, Gowtham;
Natarajan, Jeyakumar

Publication type:

Article

Identification of novel diagnostic biomarkers in stages I-IV colorectal cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00716-5

By:

Sadighi, Sarvin Alizadeh;
Abbasian, Vesal;
Sabbaghi, Seyed Sina;
Azimi, Mohammadreza;
Ghorbani Ranjbary, Ali

Publication type:

Article

PYGO2 as a tumor marker in low-grade renal cell carcinoma.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00707-6

By:

Golshan, Alireza;
Sarli, Sasan;
Taghavinia, Fatemeh;
Taghehchian, Negin;
Ghorbani, Hamidreza;
Abbaszadegan, Mohammad Reza;
Moghbeli, Meysam

Publication type:

Article

Association of caspase 7 rs12415607 gene polymorphism with cerebral ischemic stroke risk in the population of Eastern Iran.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00704-9

By:

Yousefi-Roobiyat, Maryam;
Asghari, Zahra;
Dehghani-Firouzabadi, Mohammad;
Ahmadi, Zahra;
Sharifzadeh, Gholamreza;
Rahmani, Razeih;
Miri-Moghaddam, Ebrahim

Publication type:

Article

Identification of high confidence genes involved in the manifestation of ventricular septal defect.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00708-5

By:

Shanthithadda, Chaithra;
Ramachandra, Nallur Basappa

Publication type:

Article

Genetic association of toll like receptors and breast cancer: a novel approach toward countering the breast cancer tumor invasiveness and recurrence.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00706-7

By:

Das, Avishek;
Banerjee, Avisek

Publication type:

Article

Genetic insights from whole-exome sequencing in Moroccan patients with non-small cell lung cancer: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00698-4

By:

Fakhkhari, Meryem;
Vinu, Manikandan;
Chaibi, Houda;
Dieng, Mame Massar;
Chebak, Meryem;
Hajjout, Khadija;
Zahraoui, Rachida;
Bouyahyaoui, Nawal;
Bourkadi, Jamal-Eddine;
Idaghdour, Youssef;
Sadki, Khalid

Publication type:

Article

A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00652-4

By:

Soosanabadi, Mohsen;
Biglari, Sajjad;
Bayat, Sahar;
Ghorashi, Tahereh;
Sohanforooshan Moghaddam, Atefeh;
Gholami, Milad

Publication type:

Article

Prenatal diagnosis of a rare 1p36 heterochromatin variation with a ventricular septal defect in a twin pregnancy.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00691-x

By:

Wei, Xingye;
Zhang, Pingping;
Shi, Xuedong;
Wang, Fangna;
Sun, Yanmei

Publication type:

Article

Exploration of the genetic and environmental determinants of male infertility: a comprehensive review.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00703-w

By:

Imran, Muhammad;
Zia, Ramna;
Arshad, Muneeb;
Fayyaz, Fatima;
Haider, Tauseef;
Tabraiz, Ali;
Arshad, Iqra;
Sharif, Muhammad Anees;
Javed, Benish

Publication type:

Article

SARE: an optimized method for detection functional regulatory elements in genome.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00695-7

By:

Hosseinpoor, Mohammadjavad

Publication type:

Article

Unraveling the roles of BMS1, ZNF749 and miR-6726-5p in MODS progression via integrated multiomics and ML-based approach.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00697-5

By:

Mathur, Dhairya;
Beg, Anam;
K., Sajani;
Husain, Syed Asif;
Singh, Prithvi

Publication type:

Article

Molecular mavericks: unveiling the matrix metalloproteinase gene's role in ovarian cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00693-9

By:

Bindhu, Devi Krishna Ratnakaran;
Murugan, Lavanya;
Mathews, Sneha Grace;
Krishnamurty, Nandini;
Murali, Sanjana;
Agarwal, Preet;
Junieus, Elizabeth Rani;
Francis, Andrea Mary

Publication type:

Article

Towards personalized prostate cancer treatment with docetaxel in indonesia: a pharmacogenomics perspective.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00702-x

By:

Malau, Jekmal;
Rohmah, Siti;
Meilani, Nanda Diva;
Hermosaningtyas, Anastasia Aliesa;
Kasasiah, Ahsanal;
Rahmasari, Ratika;
Setiawan, Heri;
Hasby, Fahri Azhari;
Raekiansyah, Muhareva;
Manalu, Rosario Trijuliamos

Publication type:

Article