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Egyptian Journal of Medical Human Genetics
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Articles

Page 6 of 11

  1. 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:

  2. 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:

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. Tumor necrosis factor-alpha (TNFɑ) is a cytokine that manages the host defense mechanism, which may play a role in the pathogenesis of COVID-19 patients. Several single-nucleotide polymorphisms, described in t...

    Authors: Francisco Sotomayor-Lugo, Claudia Alemañy-Díaz Perera, Hilda Roblejo-Balbuena, Yaíma Zúñiga-Rosales, Giselle Monzón-Benítez, Beatriz Suárez-Besil, María de los Ángeles González-Torres, Bárbara Torres-Rives, Yudelmis Álvarez-Gavilán, Maidalys Bravo-Ramírez, Nayade Pereira-Roche, Yudelkis Benítez-Cordero, Luis Carlos Silva-Ayçaguer and Beatriz Marcheco-Teruel
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:55
    Content type: Research Published on:

  15. Multiple sclerosis (MS) is a chronic inflammatory disease. Various long non-coding RNAs (lncRNAs) appear to have an important role in the pathophysiology of MS. This study aimed at evaluating the expression le...

    Authors: Mehrnoosh Amiri, Mohammad Javad Mokhtari, Mahnaz Bayat, Anahid Safari, Mehdi Dianatpuor, Reza Tabrizi and Afshin Borhani-Haghighi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:46
    Content type: Research Published on:

  16. Waardenburg syndrome (WS) is a rare genetic disorder characterized by musculoskeletal abnormalities, deafness and hypopigmentation of hair and skin. This article’s aim is to investigate clinical and genetic ch...

    Authors: Paula Sienes Bailo, Nuria Goñi-Ros, José Gazulla, Sara Álvarez de Andrés, Ignacio Ros Arnal and Silvia Izquierdo Álvarez
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:54
    Content type: Case Report Published on:

  17. Single amino acid substitutions in the Iduronate-2-sulfatase enzyme result in destabilization of the protein and cause a genetic disorder called Hunter syndrome. To gain functional insight into the mutations c...

    Authors: Adarshan Sivakumar, Yuvaraj Dinakarkumar, Wahidah H. Al-Qahtani, Muthusamy Karnan, Jothiramalingam Rajabathar, Arokiyaraj Charumathi, Elakiya Sadhaasivam, Aparna Preetha Venugopal, Baljeet Mukhtiar Singh, Maqbool Qutub and Sai Ramesh Anjaneyulu
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:53
    Content type: Research Published on:

  18. Hepatocellular carcinoma (HCC) is the most common primary hepatic malignancy of adults. RUNX3 and p16 are tumor suppressor genes that may be inactivated by hypermethylation which is a key epigenetic mechanism tha...

    Authors: Fatma El-shaarawy, Mai M. Abo ElAzm, Rasha H. Mohamed, Mohamed I. Radwan, Dina M. Abo-Elmatty and Eman T. Mehanna
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:48
    Content type: Research Published on:

  19. Chronic myelogenous leukemia (CML) is a type of blood cancer that affects hematopoietic stem cells and is often characterized by the presence of the Philadelphia chromosome. The Philadelphia chromosome encodes...

    Authors: Sara Benchikh, Amale Bousfiha, Adil El Hamouchi, Somda Georgina Charlene Soro, Abderrahim Malki and Sanaa Nassereddine
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:29
    Content type: Review Published on:

  20. Autosomal recessive cataract (CTRCT18) is a rare type of congenital cataract that develops to complete and lifelong childhood blindness. This inherited disorder is one of the major visual health concerns in in...

    Authors: Raed Abdulelah Al-Badran, Adnan Issa Al-Badran, Hadideh Mabudi, Mostafa Neissi and Javad Mohammadi-Asl
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:52
    Content type: Case Report Published on:

  21. Infertility is very common condition and almost 50% of cases are due to male factors. Several genetic and environmental factors are responsible for the poor quality and reduced number of sperms in several case...

    Authors: Anwar Madlool Al-janabi, Salih Mahdi Al-Khafaji and Shehab Ahmed Faris
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:51
    Content type: Research Published on:

  22. Rahman syndrome (RMNS) is a rare genetic disorder inherited in an autosomal dominant manner caused by a de novo mutation in H1-4 gene. Since there are few cases described in the literature, the prevalence of the ...

    Authors: R. González-Tarancón, E. Salvador-Rupérez, N. Goñi-Ros, S. Izquierdo Álvarez, I. Sánchez-Navarro, M. Martínez García, J. L. Peña Segura and A. López Lafuente
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:50
    Content type: Case Report Published on:

  23. Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders characterized by congenital contractures of the distal limb joints without a neuromuscular disease. This case study s...

    Authors: Mostafa Neissi, Motahareh Sheikh-Hosseini, Javad Mohammadi-Asl and Adnan Issa Al-Badran
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:49
    Content type: Case Report Published on:

  24. GLIS3 (Gli-similar 3), a transcription factor, is involved in the maturation of pancreatic beta cells in fetal life, maintenance of cell mass as well as the control of insulin gene expression in adults. As a r...

    Authors: Mai Mohamed Mohamed Farid, Abeer Ibrahim Abdel-Mageed, Aliaa El-sherbini, Noha Refaat Mohamed and Manal Mohsen
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:44
    Content type: Research Published on:

  25. The proliferation of acute myeloid leukemia (AML) blast into the bone marrow microenvironment is controlled by cytokines. Interleukin-4 (IL-4) has recently been discovered to suppress the development and persi...

    Authors: Nesma A. Safwat, Marwa R. El Najjar, Alia M. Saeed and Haydi S. Mohamed
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:43
    Content type: Research Published on:

  26. After the first case of COVID-19 being announced in China in December 2019, various diagnostic technologies have been developed at unprecedented pace with the aim of providing a basis for accurate clinical int...

    Authors: Josephine Wambani and Patrick Okoth
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:42
    Content type: Review Published on:

  27. The regeneration strategy involves several aspects, such as reprogramming aspects, targeting pathophysiological processes, and inducing the physiological one. Autophagy targeting is a potential physiological/p...

    Authors: Basheer Abdullah Marzoog and Tatyana Ivanovna Vlasova
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:41
    Content type: Review Published on:

  28. Diarrhoea is still a major public health issue in developing countries, and it is one of the leading causes of morbidity and mortality in children. We aimed to assess the use of a multiplex reverse transcripti...

    Authors: Amr Abulhamd Sayed Othma, Howayda Ezz Eldin Gomaa, Mervat Gaber El Anany, Eiman Mohammed Abdul Rahman, Eman Mahmoud Hassan, Abeer M. Nour Eldin Abd Elbaky, May Mohamed Sherif Soliman and Eman Awadallah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:40
    Content type: Research Published on:

  29. The B-cell prolymphocytic leukemia (B-PLL) diagnosis is challenging due to the superposition with mature B-cell leukemia and/or lymphoma.

    Authors: Musa Makongoro, Mahmoud Matar Mohammad Abu Rakhey, Yafei Yu, Jianzhi Sun, Guosheng Li, Na He, Samir Ali Abd El-Kaream and Daoxin Ma
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:39
    Content type: Case Report Published on:

  30. Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder that affects the liver, heart, eyes, vertebrae, and kidneys and is associated with characteristic facies. This work aimed to study the...

    Authors: Rabab Khairat, Hanaa El-Karaksy, Hala T. El-Bassyouni, Ahmed K. Saad, Eman Rabie, Khaled Hamed and Noha A. Yassin
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:28
    Content type: Research Published on:

  31. Evidence suggests that circulating resistin levels are altered in colorectal cancer (CRC) and breast cancer (BC). Again, polymorphisms in resistin-encoding gene RETN have been evaluated in CRC and BC. However, th...

    Authors: Md. Abdul Aziz, Tahmina Akter, Md. Shahid Sarwar and Mohammad Safiqul Islam
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:27
    Content type: Meta-Analysis Published on:

  32. Hepatocellular carcinoma (HCC) is among the highest life-threatening malignancies. On both a molecular and histological level, HCC is a highly heterogeneous malignancy. This study was aimed to study the correl...

    Authors: Moustafa A. Sakr, Mahmood A. Al-Azzawi, Anis Anis, Amal A. Abd El-Aziz, Mohamed E. Ebeid, Mahmoud A. Shokeer and Aysam fayed
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:14
    Content type: Research Published on:

  33. T2DM is a polygenic, metabolic complex and multifactorial disease. Several genes contribute to risk of type 2 diabetes and metabolic syndrome among different populations.

    Authors: Shaymaa W. El-Far, Heba Sh. Kassem, Amira M. Embaby, Abir A. Saad, Nader Mowafy and Medhat Haroun
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:26
    Content type: Research Published on:

  34. Occipital horn syndrome is a rare, X-linked recessive, connective tissue disorder caused by abnormal copper transporter proteins coded by the ATP7A gene. 32 cases have been reported worldwide to date. Clinically,...

    Authors: Agata Kaczmarek, Maciej Kasprzyk, Aleksander Koch and Arthur Szymanski
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:25
    Content type: Case Report Published on:

  35. Glioblastoma (GBM) is the commonest primary malignant cerebral tumor in adults. Detection of genetic mutations in liquid biopsy is endorsed rapidly throughout several solid neoplasms but still limited in GBM. ...

    Authors: Neemat M. Kassem, Hebatallah A. Kassem, Hanan Selim and Mohamed Hafez
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:23
    Content type: Research Published on:

  36. SMA is a neuromuscular genetic disorder causing irreversible degeneration of the anterior horn cells of lower motor neurons. According to the age of onset and severity of the condition, it is classified into 5...

    Authors: Noura Raafat Eissa, Heba Amin Hassan, Sameh Mohamed Senousy, Hala Nasr Soliman and Mona Lotfy Essawi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:24
    Content type: Research Published on:

  37. Methylation of the promoter at CpG islands is a mechanism of silencing tumor suppressor genes and therefore enhances cancer progression. The study aimed to examine promoter methylation frequencies of five tumo...

    Authors: Alaa Tahoon, Doaa El-Khateeb, Asmaa Mosbeh, Ibrahim Tantawy El Sayed and Ashraf Khalil
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:22
    Content type: Research Published on:

  38. Chronic hepatitis C (CHC) is a silent viral infection; however, elevated mortality and morbidity rates are noted in Egypt due to its adverse effects. The augmented incidence of diabetes in patients with viral ...

    Authors: Rehab M. Ateya, Samir A. Afifi, Nagla Abd Al Monem, Amira S. Al-Karamany, Ahmed A. Bessar, Fatma Rageh, Samar S. Ahmed and Dalia Ghareeb
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:21
    Content type: Research Published on:

  40. Mucopolysaccharidosis VI (MPS VI) or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder. Clinical manifestations are related to progressive accumulation of dermatan sulfate (DS). Two-...

    Authors: Aly A. Aboulnasr, Khaled R. Gaber, Gamal Abdel Sameea, Amr S. Gouda, Mona M. Ibrahim, Taghreed A. Shalabi and Amr Elnouri
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:20
    Content type: Research Published on:

  41. Recent research proposed an association between functional defects involving CHEK2 I157T and SULT1A1 R213H variants and increased incidence of several types of cancer. A total of 86 unrelated colorectal cancer pa...

    Authors: Ghada M. Elhady, Mostafa A. Elnaggar and Lubna M. Desouky
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:18
    Content type: Research Published on:

  42. There is a declining trend of gastric cancer (GC) incidence in the world during recent years that is related to the development of novel diagnostic methods. However, there is still a high ratio of GC mortality...

    Authors: Mohammad Reza Abbaszadegan, Majid Mojarrad, Hamid Reza Rahimi and Meysam Moghbeli
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:17
    Content type: Review Published on:

  43. As the new pandemic created by COVID-19 virus created the need of rapid acquisition of a suitable vaccine against SARS-CoV-2 to develop Immunity and to reduce the mortality, the aim of this study was to identi...

    Authors: Arian Karimi Rouzbahani, Farnaz Kheirandish and Seyedeh Zeinab Hosseini
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:16
    Content type: Research Published on:

  44. Gestational diabetes mellitus is the most common metabolic dysfunction that arises during pregnancy. GDM can lead to serious health complications for both the mother during pregnancy and after the delivery of ...

    Authors: Mai M. Madkour, Afaf M. El-Said, Abd El-Aziz A. El-Refaey, Abd El-Aziz F. Abd El-Aziz and Fardous F. El-Senduny
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:15
    Content type: Research Published on:

  46. Accumulating evidence has shown that radiofrequency radiation (RFR) emitted by mobile phones is a potential factor for DNA damage. Whether RFR affects the gene expression of human genes still requires further res...

    Authors: Ahmad M. Khalil, Khaled M. Al-Qaoud, Israa F. Alemam and Mohammad A. Okour
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:12
    Content type: Research Published on:

  47. Ovarian cancer (OC) is considered a leading cause of death among women with gynecological malignancies. OC, like breast cancer, shows a familial predisposition to germline mutations in genes BRCA1 or BRCA2, which...

    Authors: Mohamed M. Rizk, Nour M. El-etreby, Lama M. El-Attar, Eman A. Elzyat and Marwa H. Saied
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:11
    Content type: Research Published on:

  48. Interleukin-10 (IL-10) is an anti-inflammatory cytokine that affects different immune cells. It is also associated with the stimulation of the T and B cells for the production of antibodies. Several genetic po...

    Authors: Shuvo Chandra Das, Md. Anisur Rahman and Shipan Das Gupta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:10
    Content type: Research Published on:

  49. Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in the first year of life. Recently, genetic studies discovered that different gene mutatio...

    Authors: Mostafa Neissi, Adnan Issa Al-Badran and Javad Mohammadi-Asl
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:9
    Content type: Case Report Published on:

  50. Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits....

    Authors: Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:8
    Content type: Research Published on:
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  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    0.517 - SNIP (Source Normalized Impact per Paper)
    0.321 - SJR (SCImago Journal Rank)

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  • ISSN: 2090-2441 (electronic)