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Egyptian Journal of Medical Human Genetics
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Page 9 of 11

  1. The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder.

    Authors: Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak and Przemko Kwinta
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:19
    Content type: Case Report Published on:

  2. Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births. This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-rid...

    Authors: Ihssane EL Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Laila Bouguenouch, Imane Samri, Mohammed Iraqui Houssaïni, Karim Ouldim and Samir Atmani
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:18
    Content type: Research Published on:

  3. Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Glutathione-S-methyl transferase (GSTs) enzymes’ family is known to catalyze carcinogens detoxification. Overexpression of (GSTO) omega clas...

    Authors: Marianne E. Yassa, Hanaa H. Arnaout, Shahira K. Botros, Emad N. Obaid, Wael M. Mahmoud and Dalia S. Morgan
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:17
    Content type: Research Published on:

  4. Numerous studies have investigated the role of apolipoprotein E (APOE) polymorphisms in coronary artery disease (CAD), but some controversies exist regarding the outcomes as the results were not consistent and re...

    Authors: Sana Ashiq and Kanwal Ashiq
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:16
    Content type: Meta-Analysis Published on:

  5. The quantification of hemoglobin A2 (Hb A2; α2δ2) is used as a valuable test to differentiate α- and ß-thal carriers in clinical laboratories. Therefore, the HBD (δ-globin) gene variants could result in reduced l...

    Authors: Keivan Moradi, Aboozar Mohammadi and Mohsen Kazeminia
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:15
    Content type: Research Published on:

  6. One possible mechanism utilized by hepatitis C virus (HCV) to escape from the host’s innate immune surveillance is modification of its pathogen-associated molecular patterns (PAMPs) by altering or hiding its R...

    Authors: Reda A. Suef, Ezz Elden M. Mohamed, Mohamed T. M. Mansour, Kilian Weigand and Mohamed M. S. Farag
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:13
    Content type: Research Published on:

  7. Several studies have identified different genes that control the final dimension and structure of the mandible. Prognathism of the mandible is thought to correlate with these genes; however, no specific gene h...

    Authors: Avi Laviana, Bergman Thahar, Ani Melani, Endah Mardiati, Lita Putri and Akhyar Dyni Zakyah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:11
    Content type: Research Published on:

  8. Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY individuals. The aim of this study was to investigate ...

    Authors: Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair and Sultana M. H. Faradz
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:14
    Content type: Research Published on:

  9. Being one of the rapidly growing dementia type diseases in the world, Alzheimer’s disease (AD) has gained much attention from researchers in the recent decades. Many hypotheses have been developed that describ...

    Authors: Bishajit Sarkar, Sayka Alam, Tiluttoma Khan Rajib, Syed Sajidul Islam, Yusha Araf and Md. Asad Ullah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:10
    Content type: Research Published on:

  10. Primary immune thrombocytopenia (PIT) is an acquired auto-immune disease characterized by decreased platelet count with increased bleeding tendency. The tumor necrosis factor associated induced protein-3 (TNFA...

    Authors: Marwa Abd El-hady, Dalia S. Mosallam, Shahira K. Anis, Basma S. Mansour and Marianne E. Yassa
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:12
    Content type: Research Published on:

  11. The newly emerged technology, nanotechnology, represents a promising solution for many medical and industrial problems. Random targeting, resistance, and side effects are the main disadvantages of the availabl...

    Authors: Maryam Hassan Sangour, Iftikhar M. Ali, Zeenah Weheed Atwan and Ali Abd Al Lateef A. Al Ali
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:9
    Content type: Research Published on:

  12. Obesity is a health problem defined by surplus body fat accumulation and is one of the leading causes of morbidity and mortality. Earlier studies indicated the influence of brain-derived neurotrophic factor (BDNF

    Authors: Haneieh Honarmand, Mortaza Bonyadi, Abbas Rafat, Reza Mahdavi and Fereshteh Aliasghari
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:7
    Content type: Research Published on:

  13. MicroRNAs (miRNAs) represent a novel class of single-stranded RNA molecules of 18–22 nucleotides that serve as powerful tools in the regulation of gene expression. They are important regulatory molecules in se...

    Authors: Vandana Saini, Rajni Dawar, Shilpa Suneja, Sukanya Gangopadhyay and Charanjeet Kaur
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:4
    Content type: Review Published on:

  14. Melanoma cancer causes serious health problem worldwide because of its rapid invasion to other organs and lack of satisfactory chemotherapy. The pGI50 anticancer activity values of 70 compounds from the NCI (Nati...

    Authors: Abdullahi Bello Umar, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:6
    Content type: Research Published on:

  15. Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsiv...

    Authors: Ozada Khamdiyeva, Zhanerke Tileules, Gulminyam Baratzhanova, Anastassiya Perfilyeva and Leyla Djansugurova
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:5
    Content type: Research Published on:

  16. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Che Ghazali Norul Hajar, Zulkafli Zefarina, Nor Suhaila Md. Riffin, Tuan Hulwani Tuan Mohammad, Mohd Nazri Hassan, Prathapan Poonachi, Sabreena Safuan, Gehad ElGhazali, Geoffrey Keith Chambers and Hisham Atan Edinur
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:8
    Content type: Correction Published on:

    The original article was published in Egyptian Journal of Medical Human Genetics 2020 21:51

  17. Biomarkers that enhance overall diagnosis and prognosis of systemic lupus erythematosus (SLE) have a growing need to be recognized. The use of long non-coding ribonucleic acids (lncRNAs) as biomarkers in this ...

    Authors: Manal M. El-Desoky, Rasha S. Shemies, Amany S. El-Bahnasawy, Nora Mostafa and Mona Elhelaly
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:3
    Content type: Research Published on:

  18. Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinic...

    Authors: Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki and Ekram Maher Fateen
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:2
    Content type: Research Published on:

  19. There are preliminary studies about the association between COVID-19 and ABO phenotypes and the results are controversial. There are only two studies which investigated the association of Rh blood groups in ad...

    Authors: Khyber Saify, Mohammad Sarwar Alborz and Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:1
    Content type: Research Published on:

  20. Numerous research studies have identified specific human gene variants that affect enhanced susceptibility to viral infections. More recently is the current pandemic where the SARS-CoV-2 infection has shown a ...

    Authors: Babayemi Olawale Oladejo, Covenant Femi Adeboboye and Tinuola Tokunbo Adebolu
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:77
    Content type: Review Published on:

  21. Epilepsy is one of the most widely recognized neurological disorders; unfortunately, twenty to thirty percent of patients do not get cured from epilepsy, despite many trials of antiepileptic drug (AED) therapy...

    Authors: Maha Abdelsalam, Dina Salama Abd Elmagid, Hend Magdy, Amr Mohamed El-Sabbagh and Maged Mostafa
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:61
    Content type: Research Published on:

  22. A case-control study was performed to examine age, gender, and ABO blood groups in 1014 Iraqi hospitalized cases with Coronavirus disease 2019 (COVID-19) and 901 blood donors (control group). The infection was...

    Authors: Ali H. Ad’hiah, Maha H. Abdullah, Mustafa Y. Alsudani, Rasool M. S. Shnawa, Ali J. R. Al-Sa’ady, Risala H. Allami, Khawla I. Misha’al, Iftikhar A. Jassim and Estabraq A. Taqi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:76
    Content type: Research Published on:

  23. Upon re-examination of our human history, evolutionary perspectives, and genetics, a prevailing iron deficiency phenotype appears to have evolved to protect the human race from extinction.

    Authors: Rahma Menshawey, Esraa Menshawey, Ayman H. K. Alserr and Antoine Fakhry Abdelmassih
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:75
    Content type: Review Published on:

  24. Autism is a neurodevelopmental condition with genetic heterogeneity. It is characterized by difficulties in reciprocal social interactions with strong repetitive behaviors and stereotyped interests. Copy numbe...

    Authors: Swati Agarwala, Avinash M. Veerappa and Nallur B. Ramachandra
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:55
    Content type: Research Published on:

  25. Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There are three types of presentations: neonatal onset with or without cong...

    Authors: Keechilat Pavithran, Divya Pachat and Dehannathparambil Kottarathil Vijaykumar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:74
    Content type: Case Report Published on:

  26. Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocu...

    Authors: Marwa Abd Elmaksoud, Aya Attya Abeesh, Catarina Pereira and Marwa El-Saeed El-Deeb
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:59
    Content type: Case Report Published on:

  27. The purpose of this study was to characterize subtype-specific patterns of mRNA and miRNA expression of gliomas using The Cancer Genome Atlas (TCGA) data to search for genetic determinants that predict prognos...

    Authors: Dmitry Y. Gvaldin, Anton A. Pushkin, Nataliya N. Timoshkina, Eduard E. Rostorguev, Arbi M. Nalgiev and Oleg I. Kit
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:73
    Content type: Research Published on:

  28. The novel coronavirus disease (COVID-19) has claimed lots of lives, posing a dire threat to global health. It was predicted that the coronavirus outbreak in the African population would be very lethal and resu...

    Authors: Olabode E. Omotoso
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:72
    Content type: Research Published on:

  29. TMPRSS2: ETS gene fusion occurs recurrently in a high proportion of prostate cancer (PCa) patients in Western countries. However, for Chinese PCa patients, no solid conclusion could be drawn from the present stud...

    Authors: Changqing Xu, Jindan Luo, Mengmeng Wang, Yin Wang, Zhaojing Chen, Yifei Cao, Yu Hong, Xianrong Xu and Jun Yang
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:53
    Content type: Research Published on:

  30. The DNA non-homologous end-joining repair gene XRCC6 (Ku70) plays an essential role in the DNA double-strand break (DSB) repairs. Defects in the DSB repair pathway results in genomic instability. Varicocele is ch...

    Authors: Mohammad Reza Namvaran, Zahra Beyzaei, Mohammad Javad Mokhtari and Bita Geramizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:71
    Content type: Research Published on:

  31. Pitt-Hopkins syndrome (PHS) is a rare cause of severe intellectual disability, seizures, language impairment, and peculiar facial dysmorphism. It is caused by a mutation in transcription factor 4 (TCF4). Through ...

    Authors: Sawsan AlBaazi and Hula Shareef
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:70
    Content type: Case Report Published on:

  32. Phenylketonuria (PKU), inborn error of metabolism, results from phenylalanine hydroxylase deficiency. PKU leads to neurological manifestations, intellectual disability, and mental disorders. Treatment depends ...

    Authors: Amr S. Gouda and Walaa S. Nazim
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:56
    Content type: Research Published on:

  33. It has been reported that Moringa oleifera (MO) has different medicinal properties. The aim of this study was to evaluate the hepatoprotective role of Moringa oleifera extract on acetaminophen-induced liver fibro...

    Authors: Omnia Aly, Dalia M. Abouelfadl, Olfat G. Shaker, Gehan A. Hegazy, Ahmed M. Fayez and Hanan Hassan Zaki
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:69
    Content type: Research Published on:

  34. Inflammatory bowel disease (IBD) is a group of chronic inflammatory disorders of the gastrointestinal tract. It is fundamentally related to a dysregulated immune response in the intestinal mucosa against micro...

    Authors: Sarah S. Abdul-Hussein, Ekhlass N. Ali, Nawal M. F. Alkhalidi, Neihaya H. Zaki and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:68
    Content type: Research Published on:

  35. Blood group antigens are immunogenic polymorphic molecules presented on the surface of RBCs. This study aimed to determine extended blood group profiles (ABO, Rhesus, Kell, Kidd, Duffy, MNS, Cartwright, Dombro...

    Authors: Che Ghazali Norul Hajar, Zulkafli Zefarina, Nor Suhaila Md. Riffin, Tuan Hulwani Tuan Mohammad, Mohd Nazri Hassan, Prathapan Poonachi, Sabreena Safuan, Gehad ElGhazali, Geoffrey Keith Chambers and Hisham Atan Edinur
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:51
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2021 22:8

  36. V600E-BRAF is a major protein target involved in various types of human cancers. However, the acquired resistance of the V600E-BRAF kinase to the vemurafenib and the side effects of other identified drugs initiat...

    Authors: Abdullahi Bello Umar, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:67
    Content type: Research Published on:

  37. Single nucleotide polymorphisms (SNPs) play a significant role in differences in individual’s susceptibility to diseases, and it is imperative to differentiate potentially harmful SNPs from neutral ones. Defen...

    Authors: Harini Venkata Subbiah, Polani Ramesh Babu and Usha Subbiah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:66
    Content type: Research Published on:

  38. The primary cause of cancer is gene mutation which allows the growth of abnormal and damaged cells. Nutrition is one of the key factors that either increases or decreases the risk of cancer. Mannose has been f...

    Authors: Muhammad Alif Mazlan, Muhammad Lokman Md. Isa and Moustafa Ibrahim
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:64
    Content type: Research Published on:

  39. Hashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three n...

    Authors: Warda Kherrour, Dean Kalicanin, Luka Brčić, Leila Hambaba, Mouloud Yahia, Souheyla Benbia and Vesna Boraska Perica
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:57
    Content type: Research Published on:

  40. Folate is a naturally occurring, water-soluble B vitamin. The synthetic form of this compound is folic acid (FA), the deficiency of which is linked to neural tube disorders (NTD), which can be prevented by con...

    Authors: Zita C. Bendahan, Lina M. Escobar, Jaime E. Castellanos and María C. González-Carrera
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:62
    Content type: Review Published on:

  41. The reversible process where a homogenous fluid de-mixes into two distinctively separate liquid phases is referred to as LLPS (Liquid-liquid phase separation). The resulting liquid is made up of one dilute pha...

    Authors: Olanrewaju Ayodeji Durojaye, Divine Mensah Sedzro, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Judith Nnedimkpa Ajima and Glory Omini Ibiang
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:65
    Content type: Correspondence Published on:

  42. Walker–Warburg syndrome (WWS) is a rare, lethal, genetically, and clinically heterogeneous congenital muscular dystrophy resulting from defective glycosylation of α-dystroglycan (α-DG) and is associated with both...

    Authors: Sara H. El-Dessouky, Heba Hosny, Ahmed Ezz Elarab and Mahmoud Y. Issa
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:48
    Content type: Case Report Published on:

  43. The house dust mites (HDM) constitute a major cause of allergic diseases all over the world. Genes encoding interleukins 12B and 17A which determine the course of T cell-mediated immune response are prime cand...

    Authors: Asmaa Mostafa Ammar, Elham Abbas EL. Zayyat, Amira EL. Saady Khayyal, Dina Mamdouh Hamdy, Aya EL-Gendy and Noha Abdel Fattah Elleboudy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:60
    Content type: Research Published on:

  44. The discovery of epidermal growth factor receptor (EGFR) inhibitors for the treatment of lung cancer, most especially non-small cell lung cancer (NSCLC), was one of the major challenges encountered by the medi...

    Authors: Muhammad Tukur Ibrahim, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:63
    Content type: Research Published on:

  45. Cells have evolved balanced mechanisms to protect themselves by initiating a specific response to a variety of stress. The TP53 gene, encoding P53 protein, is one of the many widely studied genes in human cells o...

    Authors: Wasim Feroz and Arwah Mohammad Ali Sheikh
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:49
    Content type: Review Published on:

  46. Advanced biological techniques have helped produce more insightful findings on the genetic etiology of infertility that may lead to better management of the condition. This review provides an update on genes p...

    Authors: Tajudeen O. Yahaya, Usman U. Liman, Haliru Abdullahi, Yahuza S. Koko, Samuel S. Ribah, Zulkarnain Adamu and Suleiman Abubakar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:46
    Content type: Review Published on:

  47. Acute myeloid leukaemia (AML) is a clonal haematopoietic disease characterized by the proliferation of immature blast cells in the bone marrow and peripheral blood. Autophagy is an inherent cellular route by w...

    Authors: Manal Fawzy Ghozlan, Botheina Ahmed Thabet Farweez, Nesma Ahmed Safwat, Noha Bassiouny Hassan and Walaa Ali Elsalakawy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:45
    Content type: Research Published on:

  48. Homozygosity mapping is an efficient gene mapping method applicable to recessive disorders. It can detect homozygous segments of identical haplotype structures shared at a higher frequency among ventricular se...

    Authors: Rahim Gholipoorfeshkecheh, Swati Agarwala, Kavya G, Santhosh Krishnappa, Mysore R. Savitha and Nallur B. Ramachandra
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:58
    Content type: Research Published on:

  49. 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:

  50. 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:
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  • 2022 Citation Impact
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  • ISSN: 2090-2441 (electronic)