Works matching IS 11108630 AND DT 2024 AND VI 25 AND IP 1

Results: 154

Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00514-5

By:

Chbel, Faiza;
Hamdaoui, Hasna;
Mossafa, Houssein;
Ouldim, Karim;
Benrahma, Houda

Publication type:

Article

Low heterozygosity for rs3811050, a 5 prime untranslated region variant of the gene encoding interleukin-38 (IL1F10), is associated with a reduced risk of systemic lupus erythematosus.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00503-8

By:

Nijeeb, Rawan A.;
Aljber, Adnan A.;
Ad'hiah, Ali H.

Publication type:

Article

Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00506-5

By:

Esperón Álvarez, Antonio Alejandro;
Noa Hechavarría, Inés Virginia;
López Reyes, Ixchel;
Collazo Mesa, Teresa

Publication type:

Article

Exploring the interplay of MTHFR and FGG polymorphisms with serum levels of adiponectin and leptin in pediatric lupus nephritis: a pilot study.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00507-4

By:

De Egea, Gloria Garavito;
Domínguez-Vargas, Alex;
Fang, Luis;
Pereira-Sanandrés, Nicole;
Rodríguez, Jonathan;
Aroca-Martinez, Gustavo;
Espítatela, Zilac;
Malagón, Clara;
Iglesias-Gamarra, Antonio;
Moreno-Woo, Ana;
López-Lluch, Guillermo;
Egea, Eduardo

Publication type:

Article

Genetic factors and the role of pancreatic amylase in the pathogenesis of type 2 diabetes.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00505-6

By:

Abdulkareem, Mutiat A.;
Owolabi, Bunmi A.;
Saheed, Emmanuel S.;
Aromolaran, Remilekun F.;
Bashiru, Rukayat M.;
Jumah, Toheeb A.;
Chijioke, Doris U.;
Amaechi, Onyinyechi J.;
Adeleke, Fehintoluwa C.;
Charles, Omiyale O.;
Oluokun, Tunde S.

Publication type:

Article

Evaluation of expression levels of microRNA processing elements in patients with sudden sensorineural hearing loss.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00496-4

By:

Jabbari-Moghaddam, Yalda;
Shanehbandi, Dariush;
Asadi, Milad;
Razi-Soofiyani, Saiedeh;
Hateftabar, Vahideh

Publication type:

Article

cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00498-2

By:

Eba, Ale;
Raza, Syed Tasleem;
Wani, Irshad A.;
Siddiqi, Zeba;
Abbas, Mohammad;
Srivastava, Sanchita;
Mahdi, Farzana

Publication type:

Article

Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00497-3

By:

Catapano, Rosa;
Russo, Filippo;
Rosetti, Marco;
Poletti, Giovanni;
Trombetti, Silvia;
Sessa, Raffaele;
Fasano, Tommaso;
Maoggi, Sauro;
Roperto, Sante;
Grosso, Michela

Publication type:

Article

A novel N7-methylguanosine-associated feature predicts prognosis in gastric cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00495-5

By:

Zhao, Shixing;
Zhao, Wenbo;
Yao, Chunxia;
Tian, Yunxiao

Publication type:

Article

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS).

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00502-9

By:

Osinovskaya, Natalia;
Vashukova, Elena;
Tarasenko, Olga;
Danilova, Maria;
Glavnova, Olga;
Sultanov, Iskender;
Donnikov, Maxim;
Nasykhova, Yulia;
Glotov, Andrey

Publication type:

Article

Irreversible methadone-induced GSTP1 downregulation in SH-SY5Y cells.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00504-7

By:

Saify, Khyber;
Saadat, Mostafa

Publication type:

Article

Technologies of gene editing and related clinical trials for the treatment of genetic and acquired diseases: a systematic review.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00501-w

By:

Sharaf-Eldin, Wessam

Publication type:

Article

Genotype-biochemical phenotype analysis in newborns with biotinidase deficiency in Southeastern Anatolia.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00500-x

By:

Karaoglan, Murat;
Nacarkahya, Gulper;
Aytac, Emel Hatun;
Keskin, Mehmet

Publication type:

Article

System biology approach to delineate expressional difference in the blood mononuclear cells between healthy and Turner syndrome individuals.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00491-9

By:

Farooqui, Anam;
Tamkeen, Naaila;
Tazyeen, Safia;
Ali, Sher;
Ishrat, Romana

Publication type:

Article

Association of SLC30A8 rs13266634 gene polymorphism with type 2 diabetes mellitus (T2DM) in a population of Noakhali, Bangladesh: a case–control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00484-8

By:

Mitu, Farhana Siddiqi;
Hossain, Md. Murad;
Das, Shuvo Chandra;
Islam, Md. Mafizul;
Barman, Dhirendra Nath;
Das Gupta, Shipan

Publication type:

Article

Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00490-w

By:

Dahbi, Noura;
El khair, Abderrazak;
Cheffi, Khadija;
Habibeddine, Lamiaa;
Talbi, Jalal;
Hilali, Abderraouf;
El ossmani, Hicham

Publication type:

Article

Emanuel syndrome due to unusual pattern.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00494-6

By:

El-Bassyouni, Hala T.;
Ashaat, Engy A.;
Hamed, Khaled;
Rashed, Maha;
Abd-Elnaby, Azza E.;
Shehab, Marwa

Publication type:

Article

In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00479-5

By:

Khosravi, Teymoor;
Naghipoor, Karim;
Vaghefi, Fatemeh;
Falahati, Ali Mohammad;
Oladnabi, Morteza

Publication type:

Article

Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00493-7

By:

Pritti, Kumari;
Mishra, Vineet;
Aggarwal, Somesh;
Mistri, Mehul;
Chhetry, Manisha

Publication type:

Article

Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00489-3

By:

Meshaal, Safa;
El Hawary, Rabab;
Abd Elaziz, Dalia;
Eldash, Alia;
Darwish, Rania;
Erfan, Aya;
Lotfy, Sohilla;
Saad, Mai M.;
Chohayeb, Engy;
Alkady, Radwa;
Boutros, Jeannette;
Galal, Nermeen;
Elmarsafy, Aisha

Publication type:

Article

Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00476-8

By:

Sevak, Vandit;
Chinniah, Rathika;
Pandi, Sasiharan;
Sampathkumar, K.;
Dinakaran, T.;
Karuppiah, Balakrishnan

Publication type:

Article

Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00476-8

By:

Sevak, Vandit;
Chinniah, Rathika;
Pandi, Sasiharan;
Sampathkumar, K.;
Dinakaran, T.;
Karuppiah, Balakrishnan

Publication type:

Article

BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00492-8

By:

Wahabi Alzahabi, Salma;
Saifo, Maher;
Abou Alchamat, Ghalia

Publication type:

Article

CD36 gene variant rs1761667(G/A) as a biomarker in obese type 2 diabetes mellitus cases.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00478-6

By:

Shukla, Ashwin Kumar;
Shamsad, Amreen;
Kushwah, Atar Singh;
Singh, Shalini;
Usman, Kauser;
Banerjee, Monisha

Publication type:

Article

Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00480-y

By:

Ammar, Tamer H. A.;
Al-Ettribi, Ghada M. M.;
Abo Hashish, Maha M. A.;
Farid, Tarek M.;
Abou-Elalla, Amany A.;
Thomas, Manal M.

Publication type:

Article

Correction: Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis.

Published in:

2024

By:

Ehsani, Samira;
Mard-Soltani, Maysam;
Ahmadpour, Fatemeh;
Shahsavari, Gholamreza

Publication type:

Correction Notice

Emerging biomarkers and potential therapeutics of the BCL-2 protein family: the apoptotic and anti-apoptotic context.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00485-7

By:

Saddam, Md.;
Paul, Shamrat Kumar;
Habib, Mohammad Ahsan;
Fahim, Md. Abrar;
Mimi, Afsana;
Islam, Saiful;
Paul, Bristi;
Helal, Md Mostofa Uddin

Publication type:

Article

Association of common variant rs9934336 of SLC5A2 (SGLT2) gene with SARS-CoV-2 infection and mortality.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00481-x

By:

Das, Anamika;
Dhangadamajhi, Gunanidhi

Publication type:

Article

Osteogenesis imperfecta type XVII: expansion of the phenotype.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00475-9

By:

Dunleavy, Brooke M.;
Schildt, Alison J.;
Harrington, Caitlin;
Stevenson, David A.

Publication type:

Article

Association of p53 codon 72 polymorphism with weight and metabolic diseases in a Central Indian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00472-y

By:

Abraham, Jessy;
Mahapatra, Deepak;
Agrawal, Pratishtha;
James, Mary Jovita

Publication type:

Article

MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-023-00471-5

By:

Sanghavi, Priyanka M.;
Chandel, Divya

Publication type:

Article

Diagnostic and prognostic value of single nucleotide polymorphisms in autophagy-related genes (ATG) among Egyptian patients with breast cancer disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-023-00470-6

By:

Saadawy, Sara F.;
Raafat, Ahmed;
Omar, Walaa E.

Publication type:

Article

Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-023-00469-z

By:

Luo, Juan;
Chen, Xiaohong;
Guo, Hongxi;
Zhao, Peiwei;
Yao, Hui;
Feng, Lifang;
Yang, Luhong

Publication type:

Article

The significance of miRNA-191-5P and miRNA-24-3P as novel biomarkers for multiple sclerosis: a case–control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-023-00467-1

By:

Shaheen, Noha Mohamed Hosny;
Sherif, Mai Mahmood Sherif Salahe Eldain;
El Sayed, Amr Hassan;
El Toukhy, Marwan Mohamed;
Ahmed, Shaimaa Raafat Metwally Sayed;
Samy, Lamees Ahmed;
Tamim, Hend Hamed

Publication type:

Article

An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00629-9

By:

El Hawary, Rabab;
Meshaal, Safa;
Eldash, Alia S.;
Lotfy, Sohilla;
Abd Elaziz, Dalia;
Alkady, Radwa;
Darwish, Rania;
Erfan, Aya;
Saad, Mai;
Chohayeb, Engy;
Galal, Nermeen;
Elmarsafy, Aisha M.

Publication type:

Article

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00619-x

By:

Satekge, Tumelo M.;
Rikhotso, Glenrose;
Rossouw, Bianca;
Dillon, Bronwyn;
Baine-Savanhu, Fiona

Publication type:

Article

INI1 (SMARCB1) deletion of lung cancer: a case report and literature review.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00628-w

By:

Ma, Hong-Yan;
Shi, Shuai;
Sang, Yin Zhou;
Sun, Jie;
Wang, Xing-guang;
Zhang, Zhi-Gang

Publication type:

Article

A comprehensive analysis of the expression and prognostic significance of signal transducers and activators of transcription family in gastric cancer patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00627-x

By:

Fu, Denggang;
Zhang, Biyu;
Sun, Jinghui;
Feng, Jueping

Publication type:

Article

Unravelling variants in Farber disease: diagnostic and prenatal challenges in atypical presentations.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00621-3

By:

Kumari, Pritti;
Shah, Krati;
Kotecha, Udhaya;
Chauhan, Lakshita;
Aggarwal, Rohina

Publication type:

Article

Correction: Association between estrogen receptor-1 gene polymorphisms (rs1801132, rs2228480, rs2234693) and migraine susceptibility: an unveiling association through a comprehensive meta-analysis.

Published in:

2024

By:

Stephen, Sharon Benita;
Saravanan, Jayakanthan;
Chandrashekar, Gurudeva;
Subbaraj, Gowtham Kumar

Publication type:

Correction Notice

Novel oxidative stress- and ferroptosis-related gene prognostic signature for erectile dysfunction.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00624-0

By:

Liu, Meijun;
Yu, Maobin;
Ma, ZiYang;
Xu, Zilong;
Zhang, Tao;
Zeng, Hongsen;
Li, Ze;
Dang, XiYu;
Zhang, Peihai

Publication type:

Article

Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00622-2

By:

Ranganathan, Yeswanth;
Nazar, Saayaa;
Krishnan, Ravi Shankar;
Dinakarkumar, Yuvaraj;
Varadarajan, Vijayalakshmi;
Sebastian, Lenita;
Rethinam, Brindha

Publication type:

Article

Alterations in the metabolic signature of full-term infants of diabetic mothers.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00615-1

By:

Awad, Hesham A.;
Gad, Ghada I.;
Khalifa, Ola A.;
Ibrahim, Amal A.;
Shinkar, Dina M.

Publication type:

Article

A perspective on the genesis, diagnostics, and management of sickle cell disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00623-1

By:

Hassan, Md Samim;
Nasrin, Taslima;
Mahalka, Ajay;
Hoque, Mehboob;
Ali, Safdar

Publication type:

Article

A perspective on the genesis, diagnostics, and management of sickle cell disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00623-1

By:

Hassan, Md Samim;
Nasrin, Taslima;
Mahalka, Ajay;
Hoque, Mehboob;
Ali, Safdar

Publication type:

Article

UCP2 45-bp insertion/deletion polymorphism and obesity phenotype in the Lebanese population: a preliminary study.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00620-4

By:

Masri, Baraa;
Matar, Alaa

Publication type:

Article

Double trouble: how c-MET and HER2 fuel bladder cancer progression.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00618-y

By:

Naguib, E. M.;
Ismail, E. F.;
Badran, D. I.;
Sherief, M. H.;
El-Abaseri, T. B.

Publication type:

Article

Inhibition of JAK2 and MDM2 to treat secondary acute myeloid leukemia evolving from myelofibrosis.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00616-0

By:

Wang, Fuping;
Chen, Longxin;
Zhang, Limeng;
Du, Siyu;
Feng, Yingying

Publication type:

Article

Association between three common genetic polymorphisms of xeroderma pigmentosum complementation group C (XPC) and susceptibility to opium dependency.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00612-4

By:

Qasemian-Talgard, Arghavan;
Saadat, Mostafa

Publication type:

Article

Molecular diagnosis of mtDNA syndromes in Egyptian pediatric patients: a hospital-based study.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00609-z

By:

Mehaney, Dina;
Abaas, Donia;
Sayed, Wajeet;
Sharawy, Mai;
Selim, Laila

Publication type:

Article