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Egyptian Journal of Medical Human Genetics
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Page 10 of 11

  1. Behçet’s disease (BD) is a systemic vasculitis disorder with multifactorial immunopathogenesis and associated with significant morbidity and mortality. MicroRNAs (miRNAs) are involved in the pathogenesis of in...

    Authors: Engy El Khateeb, Ayatallah Nassef, Rasha Gheith, Aya Erfan and Walaa Abdelfattah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:43
    Content type: Research Published on:

  2. Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane ...

    Authors: Asburce Olgac, Idil Yenicesu, Rıza Köksal Ozgul, Gürsel Biberoğlu and Leyla Tümer
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:42
    Content type: Case Report Published on:

  3. Osteoporosis and neurological complications are consequences of acute lymphoblastic leukemia (ALL). Collagen type I alpha 1 gene (COL1A1) polymorphism is associated with osteoporosis. This study aimed to detect t...

    Authors: Alaa A. Omran, Rania S. Nageeb, Ghada S. Nageeb, Manal A. Yosif, Yassir A. Mohammad, Alshimaa A. Ali, Mervat Atfy, Taghreed M. Azmy and Hanaa H. Elsaid
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:39
    Content type: Research Published on:

  4. The 2019-nCoV which is regarded as a novel coronavirus is a positive-sense single-stranded RNA virus. It is infectious to humans and is the cause of the ongoing coronavirus outbreak which has elicited an emerg...

    Authors: Olanrewaju Ayodeji Durojaye, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Victor Malachy Udowo, Abayomi Gaius Osotuyi, Glory Omini Ibiang and Miapeh Kous Gonlepa
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:44
    Content type: Research Published on:

  6. Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% ...

    Authors: Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen and Hala T. El-Bassyouni
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:47
    Content type: Research Published on:

  7. Efficient approaches for early detection of colorectal cancer offer opportunities to gain better treatment outcomes. Blood-based molecular biomarkers as DNA integrity index (DII) might represent a promising tu...

    Authors: Ramy Salem, Rasha Ahmed, Karim Shaheen, Mohammed Abdalmegeed and Heba Hassan
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:38
    Content type: Research Published on:

  8. Angiotensin-converting enzyme 2 (ACE2) is a metallopeptidase that primarily functions as a negative regulator of renin angiotensin system (RAS) by converting angiotensin II (Ang II) to angiotensin 1-7. Contrar...

    Authors: Mayank Chaudhary
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:54
    Content type: Review Published on:

  9. Exercise benefits a variety of organ systems in mammals, and some of the best recognized effects of exercise on muscle are mediated by the transcriptional peroxisome proliferator-activated receptor gamma co-ac...

    Authors: Ehsan Badawy, Nabila A. El-laithy, Safaa M. Morsy, Magdi N. Ashour, Tahany R. Elias, Mahmoud M. Masoud and Omnia Aly
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:37
    Content type: Research Published on:

  10. Susceptibility to the pandemic coronavirus disease 2019 (COVID-19) has recently been associated with ABO blood groups in patients of different ethnicities. This study sought to understand the genetic associati...

    Authors: Ali H. Ad’hiah, Risala H. Allami, Raghdan H. Mohsin, Maha H. Abdullah, Ali J. R. AL-Sa’ady and Mustafa Y. Alsudani
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:50
    Content type: Research Published on:

  11. Cardiac morphogenesis is a dynamic and complex process that involves a complex interaction of many genetic and environmental factors. Ventricular septal defects (VSDs) are the commonest congenital heart defect...

    Authors: Sumbal Sarwar, Shabana, Farah Ehsan, Amna Tahir, Mahrukh Jamil, Saleem Ullah Shahid, Shahida Hasnain, Asim Khan and Syed Najam Hyder
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:36
    Content type: Research Published on:

  12. Overproduction of reactive oxygen species as a result of hyperglycemia in diabetes mellitus leads to microvascular complications. Glutathione S-transferases play important detoxifying roles with antioxidant po...

    Authors: Mohammad Bagher Hashemi-Soteh, Amir Ahmadzadeh Amiri, Majid Reza Sheikh Rezaee, Ali Ahmadzadeh Amiri, Rohodin Ahrari, Ahmad Ahmadzadeh Amiri and Fatemeh Daneshvar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:40
    Content type: Research Published on:

  14. DNA methyltransferase 3a (DNMT3a) gene is a frequently dysregulated epigenetic modifier gene involved in the process of carcinogenesis. Also, there is a dichotomous nature of nitric oxide action with the ability ...

    Authors: Inas A. Asfour, Hany M. Hegab, Walaa A. El-Salakawy, Mohamed T. Hamza, Dina A. Mansour and Alia M. Saeed
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:34
    Content type: Research Published on:

  15. Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of...

    Authors: Ilhem Nassour-Mokhtari, Bouchra Loukidi, Abdellatif Moussouni, Reda Bettioui, Riad Benhabib, Hafida Merzouk, Amaria Aouar and Katia Allal-Taouli
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:33
    Content type: Research Published on:

  16. Vitamin D deficiency is a major health concern as it increases the risk of developing many serious diseases. Recently, the correlation between vitamin D deficiency and multiple sclerosis (MS) is a matter of se...

    Authors: Bushra Alhomsi, Ghalia Aboualchamat and Imad Alkadi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:32
    Content type: Research Published on:

  17. Protein phosphatase 2A (PP2A) functions as a tumor suppressor in many cancers. Cancerous inhibitor of protein phosphatase 2A (CIP2A) inhibits PP2A proteolytic degradation of c-Myc and enhances cell growth and tum...

    Authors: Roxan E. Shafik, Azza M. Ibrahim, Fadwa Said, Naglaa M. Hassan, Hanan E. Shafik and Hala A. Shokralla
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:31
    Content type: Research Published on:

  19. Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with dif...

    Authors: Botheina Ahmed Thabet Farweez, Nahela Ahmed Shalaby, Doaa Ahmed Gamal Eissa, Raghda El Sayed Abdel Monem Galal, Nashwa El-khazragy and Shaimaa Abdelmalik Pessar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:30
    Content type: Research Published on:

  20. Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressi...

    Authors: Muhsin Elmas, Basak Gogus, Banu DeÄŸirmenci, Mustafa Solak and J. G. Gleeson
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:29
    Content type: Case Report Published on:

  21. Chromosomal abnormalities in childhood acute lymphoblastic leukemia (ALL) are well-established prognostic markers and useful tools for minimal residual disease (MRD) assessment. This study aimed to stratify hi...

    Authors: Botheina Ahmed Thabet Farweez, Nevine Ahmed Kassim, Mona Fathy Abdelfataah, Naglaa Mostafa Hassan, Doha Elsayed Ahmed Hassnien and Yasmin Nabil El-Sakhawy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:28
    Content type: Research Published on:

  22. Lung cancer tumorigenesis is mainly due to accumulation of genetic and epigenetic events in the respiratory epithelium. Epigenetic alteration is more frequent than somatic mutation in lung cancer. CpG island m...

    Authors: Mohamed Mostafa Mohamed Ahmed Rizk, Suzan Mohamed Farouk Helal, Ahmed Youssef Shaaban Gad, Doreen Nazeih Assaad Younan and Salma Abd El Maguid Mohamed Ramadan Moemen
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:27
    Content type: Research Published on:

  24. Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relativ...

    Authors: Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev and Lyudmila Angelova
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:25
    Content type: Case Report Published on:

  25. Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathological immune activation characterized by clinical signs and symptoms of extreme inflammation. It results from the uninhibited proliferation and ...

    Authors: Mohamed Almalky, Safaa H. A. Saleh, Eman Gamal Baz and Ahmed Elsadek Fakhr
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:24
    Content type: Case Report Published on:

  26. The lack of early diagnostic tools and the development of chemoresistance have made ovarian cancer (OC) one of the deadliest gynaecological cancers. The tumour microenvironment is characterised by the extracel...

    Authors: Nisha Chandran, Mahalaxmi Iyer, Zothan Siama, Balachandar Vellingiri and Arul Narayanasamy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:23
    Content type: Review Published on:

  27. Diabetic nephropathy (DN) is considered as one of the most serious complications resulting from diabetes mellitus and end-stage of renal failure globally. Up to 40% of diabetic patients will develop DN. The in...

    Authors: Amal Al-Shahat Ibrahim, Manal Mohammad Morsy, Safwat E. Abouhashem, Omnia Aly, Norhan A. Sabbah and Nermin Raafat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:22
    Content type: Research Published on:

  28. The adipokine chemerin retinoic acid receptor responder protein 2 (RARRES2) has been associated with insulin resistance, type II diabetes mellitus (T2DM), obesity, and metabolic syndrome (MetS). The impact of RAR...

    Authors: Marwa A. Dahpy, Marwa K. Khairallah, Nashwa Mostafa A. Azoz and Ghada M. Ezzat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:21
    Content type: Research Published on:

  29. Studies have shown a direct association between angiotensin-converting enzyme (ACE) and diabetic neuropathies. As such, ACE gene polymorphisms could be a risk factor for cardiac autonomic neuropathy (CAN) in pati...

    Authors: Muhanad M. Dhumad, Farqad B. Hamdan and Qasim S. Al-Mayah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:20
    Content type: Research Published on:

  30. The DNA non-homologous end joining repair gene XRCC7 is one of the most important genes in the DNA double-strand break (DSBs) repair. It is supposed that DNA repair gene malfunction is the main risk factor in var...

    Authors: Farnoush Farokhian, Zahra Beyzaei, Mani Ramzi and Bita Geramizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:19
    Content type: Research Published on:

  31. Numerous association studies have indicated that genetic alterations in genes involved in DNA repair processes are associated with the risk of age-related macular degeneration (ARMD). There is no published stu...

    Authors: Sharareh Kalteh and Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:18
    Content type: Research Published on:

  32. Identifying disease-causing genetic variants in a particular population improves the molecular diagnosis of genetic disorders. National genome databases provide valuable information on this matter. This study ...

    Authors: Shirin Shahbazi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:17
    Content type: Research Published on:

  33. Osteoporosis is a disease of the bones in which the density of the bones decreases. The prevalence of this disease greatly varies in different populations of the world. Numerous studies have been investigated ...

    Authors: Upendra Yadav, Pradeep Kumar and Vandana Rai
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:15
    Content type: Meta-Analysis Published on:

  34. Strong evidence supports the involvement of inflammation processes in the development and progression of Parkinson’s disease (PD), where increasingly correlations have been identified between genetic variation...

    Authors: Zulvikar Syambani Ulhaq and Cristian Peinado Garcia
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:14
    Content type: Meta-Analysis Published on:

  35. Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused ...

    Authors: Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu and Saadet Arsan
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:16
    Content type: Case Report Published on:

  36. Many studies have been conducted on the genetic and epigenetic etiology of gestational diabetes mellitus (GDM) in the last two decades because of the disease’s increasing prevalence and role in global diabetes...

    Authors: Tajudeen O. Yahaya, Titilola Salisu, Yusuf B. Abdulrahman and Abdulrazak K. Umar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:13
    Content type: Review Published on:

  37. The main mechanism of acute coronary syndrome (ACS) is the rupture of atherosclerotic plaques. Matrix metalloproteinases (MMPs) play an important role in the rupture of the vulnerable plaques. MMP secretion is...

    Authors: Wafaa A. Emam, Nader M. M. Ali, Aliaa T. A. Kamel, Mohamed I. M. Eladawy and Nermin Raafat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:10
    Content type: Research Published on:

  38. Neonatal sepsis is considered as a complicated syndrome, which requires urgent intervention to avoid the unfavorable outcome. Thus, biomarkers that can either distinguish sepsis early or predict sepsis outcome...

    Authors: Rabab F. Salim, Ahmed A. Sobeih and Heba M. Abd El Kareem
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:12
    Content type: Research Published on:

  39. STAG3 is the meiotic component of cohesin and a member of the Cancer Testis Antigen (CTA) family. This gene has been found to be overexpressed in many types of cancer, and recently, its variants have been impl...

    Authors: Inam J. Lafta, Bassam K. Kudhair and Noralhuda N. Alabid
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:9
    Content type: Research Published on:

  40. Congenital heart diseases (CHDs) are the most common congenital anomalies with an estimated prevalence of 8 in 1000 live births. CHDs occur as a result of abnormal embryogenesis of the heart. Congenital heart ...

    Authors: Emmanuel Suluba, Liu Shuwei, Qing Xia and Ally Mwanga
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:11
    Content type: Review Published on:

  42. Long non-coding RNAs (lncRNAs) homeobox (Hox) transcript antisense intergenic RNA (HOTAIR) and HOXA transcript at the distal tip (HOTTIP) have been suggested to be implicated in liver cancer tumorigenesis and ...

    Authors: Fawzy Roshdy, Mohamed M. S. Farag, Eman El-Ahwany, Ola Mahmode, Adel A. Mousa, Mohamed El Talkawy and Faiza Essawy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:7
    Content type: Research Published on:

  43. Noonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homol...

    Authors: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani and Karim Ouldim
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:6
    Content type: Research Published on:

  44. Phototherapy is the main therapeutic interference for neonatal hyperbilirubinemia used to escape an exchange transfusion and to decrease the risk of bilirubin-induced encephalopathy (kernikterus). Phototherapy...

    Authors: Mohamed farouk Afifi, Abdel Hakeem Abdel Mohsen, Emad Abdel Naeem and Marwa Ibrahem Abdel razic
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:5
    Content type: Research Published on:

  45. Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Alth...

    Authors: Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury and Mona Lotfi Essawi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:4
    Content type: Research Published on:

  47. Chronic inflammation with sustained unregulated immune stimulation in autoimmune rheumatic diseases (ARD) may be a risk factor for developing lymphoproliferative disorders (LPD). Markers of ARD activity as hig...

    Authors: Manal Y. Tayel, Aida Nazir, Ibtessam M. Abdelhamid, Myriam A. S. Helmy, Nadia E. Zaki, Nehad S. Elsharkawy and Amira I. Fayad
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:2
    Content type: Research Published on:

  48. In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithi...

    Authors: Besut Daryanto, Basuki Bambang Purnomo, Atma Gunawan, Fredo Tamara, Saga Aditya Hutama, Ema Dianita Mayasari, Arum Gladys Kusumaningrum and Jonny Karunia Fajar
    Citation: Egyptian Journal of Medical Human Genetics 2019 21:1
    Content type: Meta-Analysis Published on:

  49. Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect ...

    Authors: Henriette Poaty, Fanny Pelluard, Mama Sy Diallo, Irène Patricia Lucienne Ondima, Gwenaelle André and Jacques François Silou-Massamba
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:37
    Content type: Review Published on:

  50. The fibrinogen receptor is an integrin on the platelet surface and is shaped from two types of glycoprotein (GP) subunits, GPIIb and GPIIIa. Membrane glycoprotein IIb/IIIa plays an important role in platelet f...

    Authors: Zahra Rezaei Dezaki, Raihaneh Bagheri and Batoul Pourgheysari
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:36
    Content type: Review Published on:
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  • ISSN: 2090-2441 (electronic)