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(3)
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The Egyptian Journal of Medical Human Genetics
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Egyptian Society of Human Genetics Cairo, Egypt :
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Journal Articles
Association of interleukin-6 and its-174GC promoter polymorphism with clinical and laboratory characteristics of non hepatitis C virus rheumatoid arthritis patients
By: Hamid, Riham Muhammad Rafat; Muhammad, Sulayman Arif; Dwedar, Riham Ali…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.235-240, 6 p.
Journal Articles
Association of P2X7 gene common polymorphisms with pulmonary tuberculosis in Lur population of Iran
By: Amiri, Ali; Ahmadi, Sayyid Amir Yasin; Azargoon, Alireza…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.231-234, 4 p.
Journal Articles
A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia
By: Ozkan, Didem Torun; Akar, Nejat. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.271-272, 2 p.
Journal Articles
Evaluation of dysmorphic children according to echocardiographic findings : a single center experience
By: al-Mas, Muhsin; Pektas, Ayhan; Solak, Mustafa. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.267-270, 4 p.
Journal Articles
Yield of karyotyping in children with developmental delay and or dysmorphic features in Sohag University Hospital, Upper Egypt
By: Sadiq, Abd al-Rahim A.; Muhammad, Mustafa Ashry. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.253-259, 7 p.
Journal Articles
Risk factors of neural tube defects : a reality of Batna region in Algeria
By: Bourouba, Romyla; Houcher, Bakhouche; Akar, Nejat. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.225-229, 5 p.
Journal Articles
A modified protocol for highly efficient EBV-mediated immortalization of human B lymphocytes from small volumes of peripheral blood serum
By: Lemskaya, Natalya A.. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.221-223, 3 p.
Journal Articles
Genotyping of PPAR-c gene polymorphism in Egyptian neonates affected with sepsis disease and its severity
By: Shawqi, Rabah M.; Kamal, Tariq M.; al-Nadi, Ghadah H.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.215-220, 6 p.
Journal Articles
Association of toll-like receptor 2 polymorphisms with susceptibility to pulmonary tuberculosis in Sudanese
By: Zaki, H.; Gasmelseed, N.; Abd Allah, B.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 3 (Jul. 2018), pp.261-265, 5 p.
Journal Articles
Robertsonian translocation 13 14 associated with rRNA genes overexpression and intellectual disability
By: Dolskiy, Alexander A.; Lemskaya, Natalya A.; Kolesnikova, Irina S.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.141-145, 5 p.
Journal Articles
Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes
By: Kolesnikova, Irina S.; Dolskiy, Alexander A.; Lemskaya, Natalya A.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.129-134, 6 p.
Journal Articles
Association of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults
By: Ogundele, Olusegun E.; Adekoya, Khalid O.; Osinubi, Abraham A. A.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.123-127, 5 p.
Journal Articles
Detecting mycoplasma pneumoniae infections in nasopharyngeal specimens from paediatric patients with asthma exacerbations in Baghdad : a polymerase chain reaction–gene based study
By: Janabi, Muhyi Kazim Wannas; Ali, Sad Hasan Muhammad; Nasir, Nadiyah Aziz…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.117-121, 5 p.
Journal Articles
The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein
By: Widodo; Ramadani, Anggia Nur; Lukitasari, Mifetika…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.107-112, 6 p.
Journal Articles
Multiplex polymerase chain reaction : could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track ?
By: Mansur, Mirfat Jamal al-Din; al-Bandari, Shirin. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.135-139, 5 p.
Journal Articles
Are we missing fucosidosis ?.
The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.151-152, 2 p.
Journal Articles
Study of serum copper and ceruloplasmin levels in Egyptian autistic children
By: al-Baz, Faridah; Muafi, Muhammad E.; Lutfi, Ahmad. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.113-116, 4 p.
Journal Articles
The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology
By: Manalo, Rafael Vincent M.; Madina, Paul Mark B.. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.59-68, 10 p.
Journal Articles
Fetal MTHFR C677T polymorphism confers no susceptibility to down syndrome : evidence from meta-analysis
By: Rai, Vandana; Kumar, Pradeep. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.53-58, 6 p.
Journal Articles
Impact of migration on the expression of aggression and empathy in urban populations
By: Atramentova, Lubov; Luchko, Ekaterina; Filiptsova, Olga. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.83-86, 4 p.
Journal Articles
Correlation between cognitive function, gross motor skills and health-related quality of life in children with Down syndrome
By: Abd al-Hadi, Sali Sayyid; Abd al-Azim, Fatin Hasan; al-Tillawi, Huda Abd al-Azim Muhammad. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.97-101, 5 p.
Journal Articles
XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population
By: Maqbul, Rauf; Amin, Shajrul; Majid, Subhiyah…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.91-95, 5 p.
Journal Articles
Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients
By: Mukhtar, G. M.; al-Alfi, M. S.; al-Sawi, M. A.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.103-106, 4 p.
Journal Articles
Current strides in AAV-derived vectors and SIN channels further relieves the limitations of gene therapy
By: Udiba, A. S.; Uttah, V. E.; Anunubi, O. O.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.69-75, 7 p.
Journal Articles
Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients
By: Said, Marwa H.; Radi, Aya Sami; Abu al-Naja, Jalal Mustafa…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.87-90, 4 p.
Journal Articles
R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration
By: Muhammad, Nur Afiah; Ramachandran, Vasudevan; Ismail, Fatimah…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.77-81, 5 p.
Journal Articles
First report of microcephaly-capillary malformations syndrome in Russia
By: Demikova, Nataliya S.; Kakaulina, Victoria S.; Pechatnikova, Nataliya L.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 2 (Apr. 2018), pp.146-150, 5 p.
Journal Articles
Association of genetic polymorphisms of PON1 and CETP with the presence of metabolic syndrome : the effects of genotypes on their serum activity and concentrations
By: Sahebkar, Amir Husayn; Ferns, Gordon; Pasdar, Ali Rida…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.43-48, 6 p.
Journal Articles
Common variant of 5, 10-methylenetetrahydrofolate reductase may increase risk of coronary artery disease in the Iranian population
By: Attar, Marzih; Shirangi, Seyedpayam; Shahbazi, Majid…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.1-5, 5 p.
Journal Articles
Prevalence of congenital heart defects among 54 Egyptian children with maple syrup urine disease
By: Qutabi, Alya A.; al-Abd, Hibah Salah A.; Zaki, Usamah K.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.37-41, 5 p.
Journal Articles
Association between interleukin-18 promoter polymorphisms and risk of ischemic stroke : a case-control study
By: Bakr, Nuha M.; Hashim, Nuha A.; Awad, Ashraf…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.13-18, 6 p.
Journal Articles
The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians
By: al-Khiari, Wail; Abd al-Al, Muhammad; al-Sadiq, Amr Muhammad. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.19-22, 4 p.
Journal Articles
Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects
By: Shawqi, Rabah M.; Nur al-Din, Sahar M.; Abd al-Munim, Sawsan M.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.7-12, 6 p.
Journal Articles
An association between apo-A4 gene polymorphism (Thr347Ser and Gln360His) and coronary artery disease in northern India
By: Kumar, Pramod; Choudhary, Arbind Kumar; Das, Nibhriti. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.23-29, 7 p.
Journal Articles
Association assessment of Interleukine-10 gene polymorphism and its expression status with susceptibility to coronary artery disease in Iran
By: Musavi, Sayyidah Zahrah; Farazmandfar, Touraj; Shahbazi, Majid…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 19, no. 1 (Jan. 2018), pp.31-35, 5 p.
Journal Articles
Extremely low frequency electromagnetic field in combination with B-lapachone up-regulates the genes of non-homologous end joining
By: Sanie Jahromi, Fatimah; Mahmoudinasab, Hamidah; Sadat, Mustafa. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.389-392, 4 p.
Journal Articles
A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt
By: Qasim, Hibah SH.; Walsh, Roddy; John, Shibu…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.381-387, 7 p.
Journal Articles
Role of toll like receptors in bacterial and viral diseases : a systemic approach
By: Das, Avishek; Guha, Pokhraj; Sen, Debapriya…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.373-379, 7 p.
Journal Articles
Detection of helicobacter pylori vacA, cagA and iceA1 virulence genes associated with gastric diseases in Egyptian patients
By: al-Ghannam, Majid T.; Shahin, Muhammad; Sabir, Muhammad…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.365-371, 7 p.
Journal Articles
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II
By: Shawqi, Rabah M.; Jamal, Radwah; Muhammad, Shayma Abd al-Sattar. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.397-401, 5 p.
Journal Articles
Association assessment of platelet derived growth factor B gene polymorphism and its expression status with susceptibility to coronary artery disease
By: Rezayani, Shayesteh; Farazmandfar, Touraj; Shahbazi, Majid. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.359-363, 5 p.
Journal Articles
Screening of polymorphisms in the folate pathway in Turkish pediatric acute lymphoblastic leukemia patients
By: Mumcuoglu, Mine; Ezer, Ustun; Akar, Nejat…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.349-353, 5 p.
Journal Articles
Open-array analysis of genetic variants in Egyptian patients with type 2 diabetes and obesity
By: Atiyyah, Hana R. M.; Kamil, Sulaf A.; Ibrahim, Muna H.…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.341-348, 8 p.
Journal Articles
CYP2D6 pharmacogenomics
By: Gopisankar, Mohanan Geetha. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.309-313, 5 p.
Journal Articles
Distribution of HLA-DRB1 DQB1alleles and DRB1-DQB1haplotypes among Tunisian patients with autoimmune hepatitis
By: Chaouali, Marwa; Kochkar, Radyah; Messadi, Amirah…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.335-339, 5 p.
Journal Articles
Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women : a meta-analysis
By: Jouhadi, Hassan; Benider, Abd al-Latif; Nadifi, Sellama…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.329-334, 6 p.
Journal Articles
Identification of functional SNPs in human LGALS3 gene by in silico analyses
By: Kaur, Tarnjeet; Singh, Jatinder; Kaur, Manpreet…[et al.]. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.321-328, 8 p.
Journal Articles
Global distribution of consanguinity and their impact on complex diseases : genetic disorders from an endogamous population
By: Bener, Abd al-Bari; Muhammad, Ramzi R.. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.315-320, 6 p.
Journal Articles
Comparison of multiplex reverse transcription-PCR-enzyme hybridization assay with immunofluorescence techniques for the detection of four viral respiratory pathogens in pediatric community acquired pneumonia
By: Mansur, Mirvat Jamal al-Din; al-Bindari, Shirin. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 4 (Oct. 2017), pp.355-358, 4 p.
Journal Articles
PAX5a and PAX5b mRNA expression in breast cancer : relation to serum P53 and MMP2
By: Ahmad, Manal Basyuni; Nabih, Inas Samir; al-Shihah, Munirah. The Egyptian Journal of Medical Human Genetics. Vol. 18, no. 3 (Jul. 2017), pp.289-294, 6 p.
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