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Egyptian Journal of Medical Human Genetics
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  1. The cystic fibrosis transmembrane conductance regulator (CFTR) gene has been traditionally linked to cystic fibrosis (CF) inheritance in an autosomal recessive manner. Advances in molecular biology and genetics h...

    Authors: Giuseppe Fabio Parisi, Federico Mòllica, Alessandro Giallongo, Maria Papale, Sara Manti and Salvatore Leonardi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:94
    Content type: Review Published on:

  2. Vascular endothelial growth factor (VEGF) is a signal protein, induces cell proliferation, and enhances the permeability of the endothelial cells. VEGF-A gene is highly polymorphic, with different near-gene varia...

    Authors: Thoria Ahmed Omar, Gehan Kamal El-Saeed, Seham Ahmed Khodeer, Alaa Abdelsalam Dawood, Sara Mahmoud El-Deeb, Asmaa Mohammed ELShemy and Belal Abdelmohsen Montaser
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:93
    Content type: Research Published on:

  4. Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46, XY individuals and is one of the causes of disorder of sexual...

    Authors: Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan and Rahim Vakili
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:91
    Content type: Case Report Published on:

  5. The increasing prevalence of diabetes mellitus (DM) is one of the most challenging public health issues. The destruction of insulin-producing cells in the islets of Langerhans is the hallmark of type 1 diabete...

    Authors: Rabab Afifi Mohamed, Dalia Saber Morgan, Mahmoud Hodeib, Asmaa Radwan and Hany Fawzy Ali
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:90
    Content type: Research Published on:

  6. Tuberculosis (TB) is a multifactorial disease, and increasing evidence shows that genetic variants in regulating genes of immune response confer susceptibility to active TB at the individual level. We aimed to...

    Authors: Hanaa Shafiek, Ahmed Shabana, Ayman El-Seedy and Yehia Khalil
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:89
    Content type: Research Published on:

  7. Toll-like receptors (TLRs) are a family of 10 pattern recognition receptors (TLR1–TLR10) involved in the regulation of inflammatory and immune responses besides their role in the pathogenesis of autoimmune dis...

    Authors: Noor S. Atiyah, Hula Y. Fadhil and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:88
    Content type: Research Published on:

  8. β-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of the Beta chain synthesis of haemoglobin leading to severe anaemia. Kl...

    Authors: Sushmitha Billapati, G. C. Sowmya, R. S. Tapadia and Usha R. Dutta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:87
    Content type: Case Report Published on:

  9. Glutathione S-transferases (GSTs) are a class of important Phase II detoxification enzymes that catalyze the conjugation of glutathione and xenobiotic compounds (environmental carcinogens, pollutants and drugs...

    Authors: Hemlata, Jagphool Singh, Anuradha Bhardwaj, Anil Kumar, Gulab Singh, Kanu Priya and Shiv Kumar Giri
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:86
    Content type: Research Published on:

  11. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to be a significant public health challenge globally. SARS-CoV-2 is a novel virus, and the understanding of what constitutes expressed RNAseq...

    Authors: Javan Okendo and David Okanda
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:84
    Content type: Research Published on:

  12. The irrational use of carbapenems in the last years lead to the emergence of carbapenem-resistant Enterobacteriaceae (CRE). This study aimed at determining the prevalence of CRE intestinal carriage among admitted...

    Authors: Inas El-Defrawy, Doaa Gamal, Rania El-Gharbawy, Eman El-Seidi, Ehab El-Dabaa and Somaya Eissa
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:83
    Content type: Research Published on:

  13. Intellectual disability is characterized by impairments in adaptive behavior and cognitive functioning manifested during the developmental period. Since disabilities are heterogeneous, variant analysis can hel...

    Authors: Mahdiyeh Moudi, Mohammad Yahya Vahidi Mehrjardi, Seyed Mehdi Kalantar, Mohsen Taheri, Zahra Metanat, Nasrin Ghasemi and Mohammadreza Dehghani
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:82
    Content type: Case Report Published on:

  14. Schizophrenia is a psychotic disorder that impacts around 0.5% to 1.2% of the world's population. It has been well established that heredity plays an essential role in the causation of schizophrenia, with gene...

    Authors: Houssam Boulenouar, Hadjer Benhatchi, Farah Guermoudi, Ahlem Hania Oumiloud and Asma Rahoui
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:81
    Content type: Review Published on:

  15. To provide normal reference data and identify growth patterns for craniofacial dimensions of a mid-face zone in healthy preschool Egyptian children.

    Authors: Soheir S. Abou El Ella, Maha A. Tawfik, Mona Yakout Abd El Shaheed and Naglaa Fathy Barseem
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:80
    Content type: Research Published on:

  16. Polycystic ovary syndrome (PCOS) is a common endocrine–metabolic disorder due to genetic and environmental factors. Genetic variants located in intron 1 of Fat mass and obesity-associated (FTO) gene are associate...

    Authors: Zeinab Naghshband and Suttur S. Malini
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:79
    Content type: Research Published on:

  17. Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen dise...

    Authors: Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien and Anatole Laleye
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:78
    Content type: Case Report Published on:

  18. Polycystic ovary syndrome (PCOS) became one of the main reasons for infertility in women. It has an obvious effect on phenotype represented by hirsutism, increased body mass index, obesity, and acne, while bio...

    Authors: Rehab S. Ramadhan, Rebah N. Algafari and Aziz Latif Jarallah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:77
    Content type: Research Published on:

  19. A missense gain-of-function fibroblast growth factor-23 (FGF23) gene single nucleotide polymorphism (SNP) (rs7955866) has been associated with FGF23 hypersecretion, phosphaturia, and bone disease. Excess circulat...

    Authors: Yaser Aly Ammar, Dalia Aly Maharem, Amira Hussein Mohamed, Gihane Ibrahim Khalil, Riham Said Shams-Eldin and Fatma Ibrahim Dwedar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:76
    Content type: Research Published on:

  20. Advances in genetic science have led to the identification of many rare treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic spectrum of pediatric patients presenting with MDs. B...

    Authors: Dina Amin Saleh and Azza Abd El Moneim Attia
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:75
    Content type: Research Published on:

  21. Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis. ...

    Authors: Melis Akpinar Gozetici, Fadime Ersoy Dursun and Hasan Dursun
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:74
    Content type: Case Report Published on:

  22. Colour vision deficiency (CVD), also referred to as colour blindness, is the failure or decreased ability to distinguish between certain colours under normal lighting conditions. It is an X-linked genetic diso...

    Authors: Samson Taiwo Fakorede, Lydia Gift Akpan, Khalid Olajide Adekoya and Bola Oboh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:73
    Content type: Research Published on:

  24. Preeclampsia (PE) is one of the complications of pregnancy. The pathogenesis of PE has not been completely understood. The aims of the present study were to investigate the role of Keap1 (rs11085735) variants ...

    Authors: Maryam Zangeneh, Sara Heydarian, Zahra Seifi, Maryam Kohsari and Zohreh Rahimi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:37
    Content type: Research Published on:

  25. IL-37 is an anti-inflammatory cytokine that increases in several inflammatory diseases with the main inducing signal for its production being pro-inflammatory cytokines like TNF-α. We aimed to assess the corre...

    Authors: Dina Ragab, Ahmed Abbas and Ramy Salem
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:72
    Content type: Research Published on:

  26. Drugs are chemicals which can disrupt the nerve cell functions of the brain. The present study aims to investigate the addiction related gene (OPRM1) in three types of addiction—drugs, alcohol and smoking. Pathwa...

    Authors: Vanlal Hriatpuii, Hoikhe Priscilla Sema, Chenkual Vankhuma, Mahalaxmi Iyer, Mohana Devi Subramaniam, Krothapalli R. S. Sambasiva Rao, Balachandar Vellingiri and Nachimuthu Senthil Kumar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:35
    Content type: Review Published on:

  27. Improving motor coordination is an important prerequisite for the functional development of children with cerebral palsy (CP). Virtual reality (VR) may be efficient, interactive, adjustable and motivating phys...

    Authors: Naglaa Abdelhaleem, Manal S. Abd El Wahab and Shorouk Elshennawy
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:71
    Content type: Review Published on:

  28. Ischemic stroke (IS) is the most leading cause of morbidity and mortality worldwide. Micro RNA (miRNA) genetic variants have been identified as a part of IS non-modifiable risk markers. This study aims to iden...

    Authors: Wafaa M. Abdelghany, Naguib Zoheir, Samah Abd Elhamid, Sandra Ahmed and Kareeman Gomaa
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:38
    Content type: Research Published on:

  29. In order to improve cancer patients' chances of survival, scientists have prioritized finding alternatives to chemotherapy, focusing their efforts on natural sources. The current study investigates the anti-ca...

    Authors: Saba M. J. Falih, Sarah T. Al-Saray, Abdulbari A. Alfaris and Ali A. A. Al-Ali
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:70
    Content type: Research Published on:

  30. Cigarette smoking is the leading preventable cause of death worldwide, and it is the most common cause of oral cancers. This study aims to provide a deeper understanding of the molecular pathways in the oral c...

    Authors: Anas Khaleel, Bayan Alkhawaja, Talal Salem Al-Qaisi, Lubna Alshalabi and Amneh H. Tarkhan
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:69
    Content type: Research Published on:

  31. DNA methylation is involved in pathogenesis of acute myeloid leukemia (AML). N6-methyladenosine (m6A) modification of mRNA, mediated by methyltransferase-like 3 (METTL3), is one of the well-identified mRNA modifi...

    Authors: Reham Mohamed Nagy, Amal Abd El Hamid Mohamed, Rasha Abd El-Rahman El-Gamal, Shereen Abdel Monem Ibrahim and Shaimaa Abdelmalik Pessar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:34
    Content type: Research Published on:

  32. Down syndrome (DS) is characterized by variable degrees of intellectual disability (ID). The coronavirus disease-2019 (COVID-19) lockdown prevented children with DS from reaching their rehabilitation facilitie...

    Authors: Nagwa A. Meguid, Neveen Hassan Nashaat, Hanaa Reyad Abdallah, Maha Hemimi, Ahmed Elnahry, Hazem Mohamed El-Hariri and Amal Elsaeid
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:68
    Content type: Research Published on:

  33. Methamphetamine abuse disorder is an important social and health problem worldwide. Diagnosis and confirmation of patients with methamphetamine abuse using serum are important in many fields. MicroRNAs (miRNAs...

    Authors: Shima Fathi, Hossein Soltanzadeh, Asghar Tanomand, Zahra Asadi and Saman Rezai Moradali
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:67
    Content type: Research Published on:

  34. Multiple myeloma (MM) is a proliferation of monoclonal plasma cells that accumulate in bone marrow, leading to bone destruction and marrow failure. Cytogenetic analysis is a challenge in MM because of the low ...

    Authors: Hadeel Yaseen Abdel-Qader, Dina Adel Fouad, Soha Ahmed Abuelela, Heba Mohamed Atif Ismail and Noha Hussein Boshnaq
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:66
    Content type: Research Published on:

  35. Genetic factors are important considerations in the etiology of preeclampsia and gestational hypertension. Several previous studies have shown an association of Vitamin D receptor (VDR) gene polymorphisms with hy...

    Authors: Dini Setiarsih, Pramudji Hastuti and Detty Siti Nurdiati
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:33
    Content type: Research Published on:

  36. Tibial muscular dystrophy (TMD), tardive, is a dominantly inherited mild degenerative disorder of anterior tibial muscles. Mutations of Titin (TTN) have been reported in patients with different phenotypes such as...

    Authors: Deepak Panwar, Kumar Gautam Singh, Shruti Mathur, Bhagwati Prasad, Anita Joshi, Vandana Lal and Atul Thatai
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:65
    Content type: Case Report Published on:

  37. Type 2 diabetes mellitus (T2DM) is chronic metabolic disorder manifested by increased blood glucose (hyperglycemia) due to pancreatic β-cell dysfunction and/or decreased sensitivity of peripheral tissue to ins...

    Authors: Hussein K. Fadheel, Ahmed N. Kaftan, Farah H. Naser, Majid K. Hussain, Abdul Hussein A. Algenabi, Hamza J. Mohammad and Thekra A. Al-Kashwan
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:64
    Content type: Research Published on:

  38. Green synthesis of nanoparticles with medicinal plants has inherent potential in the management of diabetes mellitus. This study synthesized Momordica charantia nanoparticles using silver nitrate to investigate t...

    Authors: Olusola Olalekan Elekofehinti
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:63
    Content type: Research Published on:

  39. Airway epithelium contributes to the natural history of bronchial asthma through the production of various cytokines and chemokines. The purpose of this study was to assess nasal epithelial cell genes (TMEM178, F...

    Authors: Ola Galal Ali Behairy, Osama Ibrahim Mohammad, Rabab F. Salim and Ahmad Ata Sobeih
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:32
    Content type: Research Published on:

  40. Highly malignant high-grade gliomas are tumors of the central nervous system (CNS). They are solid tumors arising from transformed cells of the brain and/or the spinal cord. In recent years, the expression of ...

    Authors: Oleg I. Kit, Anton A. Pushkin, Ilya A. Alliluyev, Nataliya N. Timoshkina, Dmitry Y. Gvaldin, Eduard E. Rostorguev and Nataliya S. Kuznetsova
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:31
    Content type: Research Published on:

  41. Allogeneic stem cells are the most potent sources for replacing cell, tissue, and organ malfunctions. The clinical use of these stem cells has been limited due to the risk of immune system rejection due to the...

    Authors: Maryam Ranjbar, Farshid Amiri, Marjan Nourigorji, Farid Torabizadeh, Mahintaj Dara and Mehdi Dianatpour
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:62
    Content type: Research Published on:

  42. It is difficult to classify a small fraction of α- and β-thalassemia (α- and β-thal) carriers based on their Hb A2 levels. Here, we report the results of a molecular investigation in a cohort of thalassemia carri...

    Authors: Keivan Moradi, Reza Alibakhshi, Samaneh Shafieenia and Azam Azimi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:61
    Content type: Research Published on:

  43. In the literature, to investigate hormonal mechanisms of cell growth of patients with breast cancer (BC), as the second most common cause of death in the world, the researchers frequently used MCF-7 cell lines...

    Authors: Elham Amjad, Babak Sokouti and Solmaz Asnaashari
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:60
    Content type: Research Published on:

  44. Gestational diabetes mellitus is well-defined as glucose intolerance first documented during pregnancy. In this study, we examined the possible associations between I/D polymorphism of the angiotensin-converti...

    Authors: Esmat Ashour, Weaam Gouda, Lamiaa Mageed, Ahmed Okasha, Mie Afify and Olfat M. Fawzi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:59
    Content type: Research Published on:

  45. Retinopathy is one of the major causes of visual impairment which is the most severe microvascular complication of diabetes mellitus (DM). The aim of this study was to evaluate the association between diabetic...

    Authors: Sara Wagih, Manal M. Hussein, Kareem A. Rizk, Amira A. Abdel Azeem and Ola H. El-Habit
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:58
    Content type: Research Published on:

  46. Normal pressure hydrocephalus is a neurologic disease leading to enlargement of ventricles which is presented with gait and balance disturbance, cognitive decline, and urinary incontinence. Diagnosis of normal...

    Authors: Fatemeh Afrashteh, Roya Ghafoury and Mostafa Almasi-Doghaee
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:30
    Content type: Review Published on:

  47. Single nucleotide polymorphism (SNP) variants are abundant, persistent and widely distributed across the genome and are frequently linked to the development of genetic diseases. Identifying SNPs that underpin ...

    Authors: Waseem Chauhan, Rafat Fatma, Afiya Wahab and Mohammad Afzal
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:57
    Content type: Review Published on:

  48. Vitamin D regulates cell proliferation and differentiation and exhibits immunoregulatory, antiangiogenic, and antioxidant characteristics. Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms h...

    Authors: Yara Khattab, Randa Reda, Maha El-Gaafary, Yasser Zeitoun, Rania Abo-Shady and Walid Abdelhady
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:56
    Content type: Research Published on:

  49. Congenital heart disease CHD is a significant cause of mortality and morbidity in children worldwide. Patients with congenital heart disease may develop hematological problems, including thrombocytopenia and n...

    Authors: Hanieh Mohammadi, Behzad Mohammadpour Ahranjani, Ehsan Aghaei Moghadam, Farzad Kompani, Mona Mirbeyk and Nima Rezaei
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:47
    Content type: Research Published on:

  50. Polycystic ovary syndrome (PCOS) is among the most common complex genetic endocrinopathy, and its etiology and pathophysiology remain controversial. FTO is a large highly polymorphic gene and was coined as the fi...

    Authors: Alaa A. Alnafjan, Afrah F. Alkhuriji, Hussah M. Alobaid, Zainb A. Babay and Mahmoud I. Khalil
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:45
    Content type: Research Published on:
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  • ISSN: 2090-2441 (electronic)