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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. Blood group has been stated to be one of the risk factors associated with viral diseases like dengue, hepatitis virus, Norwalk virus and even the coronavirus associated with 2003 severe acute respiratory syndr...

    Authors: Birasen Behera, Bidyutprava Rout, RajashreePanigrahy, Subrat Kumar Kar, Debasish Sahoo, Kundan Kumar Sahu and Sarita Otta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:7
  35. Incontinentia pigmenti (IP) is a rare X-linked dominant disorder affecting the skin and other ectodermal tissues that is caused by a mutation of the IKBKG/NEMO gene.

    Authors: Filiz Başak Cengiz Ergin, Mustafa Tekin, Meltem Güneş, Begüm Güneş, Şahika Baysun and Nejat Akar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:6
  36. Familial Mediterranean fever (FMF), known as a disease with a high prevalence rate among Armenian, Turkish, Jewish, and Arab descent populations, occurs as a result of pathogenic variants in mediterranean fever (

    Authors: Reza Alibakhshi, Aboozar Mohammadi, Keyghobad Ghadiri, Sahand Khamooshian, Mohsen Kazeminia and Keivan Moradi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:5
  37. Hypertension is a serious condition that is spread worldwide and may lead to severe complications such as heart attack, stroke, hypertensive retinopathy, and renal failure. Although some genetic and environmen...

    Authors: Zafer Cengiz Er, Ahmet Muderrisoglu, Meral Ekim and Hasan Ekim
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:4
  38. Colorectal cancer is the third most diagnosed disease in the world population and current chemotherapy has been used for targeting the cell proliferation and metastasizing ability of tumor cells. Potent chemot...

    Authors: Kuruvalli Gouthami, Vadamalai Veeraraghavan and Prashantha Nagaraja
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:3
  39. Diabetic nephropathy is known to be a leading complication of diabetes mellitus, characterized by diverse aspects such as high urinary albumin level, elevated blood pressure, and genetic susceptibility leading...

    Authors: Sindhu Varghese and Subbaraj Gowtham Kumar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:2
  40. The SARS-CoV-2 has infected many people globally with the ravaging COVID-19; a disease, which has become challenging for every aspect of modern healthcare. The saliva and oral mucosa are sites of high risk for...

    Authors: Glory Omini Ibiang, Joseph Malachi, Mercy Omini Ibiang, Daniel Kenechi Chukwudi and Olanrewaju Ayodeji Durojaye
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:1
  41. As individuals live longer, elderly populations can be expected to face issues. This pattern urges researchers to investigate the aging concept further to produce successful anti-aging agents. In the current s...

    Authors: Elham Amjad, Babak Sokouti and Solmaz Asnaashari
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:90
  42. Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. ...

    Authors: David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn and N. Simon Thomas
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:89
  43. Successful implantation of blastocysts is indeed an important path in mammalian reproduction that is governed by a complicated web of cytokines interactions. Leukemia inhibitory factor (LIF) and interleukin-11...

    Authors: Zahraa Alzaidi, Şule Menziletoğlu Yildiz, Çetin Saatçi, Hilal Ünlü Akalin, Iptisam Ipek Muderris, Buşra Aynekin, Izem Olcay Şahin and Munis Dündar
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:85
  44. Infections in communities and hospitals are mostly caused by Staphylococcus aureus strains. This study aimed to determine the prevalence of five genes (SEA, SEB, SEC, SED and SEE) encoding staphylococcal enteroto...

    Authors: Ahmed A. Baz, Elsayed K. Bakhiet, Usama Abdul-Raouf and Ahmed Abdelkhalek
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:84
  45. To determine the relationship between the genotypes of the TaqI polymorphism of VDR gene and the clinical forms of COVID-19 in Cuban patients.

    Authors: Estela Morales Peralta, Yaíma Zúñiga Rosales, Teresa Collazo Mesa, Elvia Nelmi Santos González, Yadira Hernández Pérez, María de los Ángeles González Torres, Hilda Roblejo Balbuena and Beatriz Marcheco Teruel
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:83
  46. Parkinson’s disease (PD) is a multifactorial neurodegenerative disorder marked by the death of nigrostriatal dopaminergic neurons in response to the compounding effects of oxidative stress, mitochondrial dysfu...

    Authors: Suchita Ganesan and Venkatachalam Deepa Parvathi
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:86
  47. A cross-sectional observational study was conducted on 213 patients with COVID-19 who did not have a clinical history of diabetes at hospital admission. One week after hospitalization, they were stratified by ...

    Authors: Ali H. Ad’hiah, Noor T. Al-Bayatee and Aeshah A. Ahmed
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:82

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