Works matching IS 11108630 AND DT 2021 AND VI 22

Results: 103

Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC)

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00197-2

By:

Waheed, Nadia;
Fayyaz, Zafar;
Imran, Ahmad

Publication type:

Article

Rare dosage abnormalities flanking the SHOX gene.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00209-1

By:

Bunyan, David J.;
Gevers, Evelien;
Hobbs, James I.;
Duncan-Flavell, Philippa J.;
Howarth, Rachel J.;
Holder-Espinasse, Muriel;
Klee, Philippe;
Van-Heurk, Roxane;
Lemmens, Laure;
Carminho-Rodrigues, Maria Teresa;
Mohamed, Zainaba;
Goturu, Aruna;
Hughes, Claire R.;
Ajzensztejn, Michal;
Thomas, N. Simon

Publication type:

Article

Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00202-8

By:

Abdelrahman, Amany H.;
Eid, Ola M.;
Ibrahim, Mona H.;
Abd El-Fattah, Safa N.;
Eid, Maha M.;
Meguid, Nagwa A.

Publication type:

Article

A note of thanks.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00211-7

By:

Elsayed, Solaf

Publication type:

Article

Protein secondary structure prediction (PSSP) using different machine algorithms.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00173-w

By:

Afify, Heba M.;
Abdelhalim, Mohamed B.;
Mabrouk, Mai S.;
Sayed, Ahmed Y.

Publication type:

Article

Molecular study of Pompe disease in Egyptian infants.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00203-7

By:

Essawi, Mona;
ElBagoury, Nagham;
Ashaat, Engy;
Sharaf-Eldin, Wessam;
Fateen, Ekram

Publication type:

Article

A hybrid systems biology and systems pharmacology investigation of Zingerone's effects on reconstructed human epidermal tissues.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00204-6

By:

Amjad, Elham;
Sokouti, Babak;
Asnaashari, Solmaz

Publication type:

Article

The effect of cytokine leukemia-inhibitory factor (LIF) and interleukin-11 (IL-11) gene expression on the primary infertility related to polycystic ovary syndrome, Tubal factor, and Unexplained infertility in Turkish women.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00201-9

By:

Alzaidi, Zahraa;
Yildiz, Şule Menziletoğlu;
Saatçi, Çetin;
Akalin, Hilal Ünlü;
Muderris, Iptisam Ipek;
Aynekin, Buşra;
Şahin, Izem Olcay;
Dündar, Munis

Publication type:

Article

Prevalence of enterotoxin genes (SEA to SEE) and antibacterial resistant pattern of Staphylococcus aureus isolated from clinical specimens in Assiut city of Egypt.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00199-0

By:

Baz, Ahmed A.;
Bakhiet, Elsayed K.;
Abdul-Raouf, Usama;
Abdelkhalek, Ahmed

Publication type:

Article

Deconstructing the molecular genetics behind the PINK1/Parkin axis in Parkinson's disease using Drosophila melanogaster as a model organism.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00208-2

By:

Ganesan, Suchita;
Parvathi, Venkatachalam Deepa

Publication type:

Article

TaqI polymorphism of the VDR gene: aspects related to the clinical behavior of COVID-19 in Cuban patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00206-4

By:

Peralta, Estela Morales;
Rosales, Yaíma Zúñiga;
Mesa, Teresa Collazo;
González, Elvia Nelmi Santos;
Pérez, Yadira Hernández;
de los Ángeles González Torres, María;
Balbuena, Hilda Roblejo;
Teruel, Beatriz Marcheco

Publication type:

Article

Coronavirus disease 19 and risk of hyperglycemia among Iraqi patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00207-3

By:

Ad'hiah, Ali H.;
Al-Bayatee, Noor T.;
Ahmed, Aeshah A.

Publication type:

Article

A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00140-5

By:

Dudzik, Aleksandra;
Nedza, Weronika;
Końska, Katarzyna;
Starzec, Katarzyna;
Tomasik, Tomasz;
Grudzień, Andrzej;
Jagła, Mateusz;
Durlak, Wojciech;
Kwinta, Przemko

Publication type:

Article

Identification of the most potent acetylcholinesterase inhibitors from plants for possible treatment of Alzheimer's disease: a computational approach.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-020-00127-8

By:

Sarkar, Bishajit;
Alam, Sayka;
Rajib, Tiluttoma Khan;
Islam, Syed Sajidul;
Araf, Yusha;
Ullah, Md. Asad

Publication type:

Article

Momordica charantia nanoparticles promote mitochondria biogenesis in the pancreas of diabetic-induced rats: gene expression study.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00200-w

By:

Elekofehinti, Olusola Olalekan;
Ayodele, Olusola Christianah;
Iwaloye, Opeyemi

Publication type:

Article

Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus.

Published in:

2021

By:

Kocaaga, Ayca;
Yimenicioglu, Sevgi;
Alıcı, Cigdem Arslan

Publication type:

Case Study

Automated detection of colon cancer using genomic signal processing.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00192-7

By:

Naeem, Safaa M.;
Mabrouk, Mai S.;
Eldosoky, Mohamed A.;
Sayed, Ahmed Y.

Publication type:

Article

Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus.

Published in:

2021

By:

Kocaaga, Ayca;
Yimenicioglu, Sevgi;
Alıcı, Cigdem Arslan

Publication type:

Case Study

Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00196-3

By:

Kumar, Rohit;
Saini, Vandana;
Kaur, Charanjeet;
Isser, H. S.;
Tyagi, Nitin;
Sahoo, Subhra

Publication type:

Article

Automated detection of colon cancer using genomic signal processing.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00192-7

By:

Naeem, Safaa M.;
Mabrouk, Mai S.;
Eldosoky, Mohamed A.;
Sayed, Ahmed Y.

Publication type:

Article

Spontaneous apoptosis and BCL2 gene expression as predictors of early death and short overall survival in acute leukemia patients: a prospective, case cohort study.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00210-8

By:

Ebian, Huda F.;
El-korashi, Lobna A.;
Embaby, Ahmed;
Hussien, Marwa H.;
Ahmed, Alshymaa A.

Publication type:

Article

Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL).

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00195-4

By:

Zakeri, Mana;
Safaiee, Mohammad Sadegh;
Taheri, Forough;
Taghizadeh, Eskandar;
Ferns, Gordon A.;
Mobarhan, Majid Ghayour;
Pasdar, Alireza

Publication type:

Article

Overexpression of lncRNA AFAP1-AS1 as a diagnostic biomarker in non-small cell lung cancer.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00194-5

By:

Ghalib Ibrahim Alnajar, Sajjad;
Rajabi, Ali;
Maydanchi, Melika;
Tayefeh Gholami, Samaneh;
Saber, Ali;
Safaralizadeh, Reza

Publication type:

Article

Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC).

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00197-2

By:

Waheed, Nadia;
Fayyaz, Zafar;
Imran, Ahmad

Publication type:

Article

The prospective prognostic value of the immune checkpoint BTLA expression in adult acute myeloid leukemia patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00198-1

By:

Radwan, Sara M.;
Elleboudy, Nooran S.;
Nabih, Nermeen A.;
El-kholy, Amal;
Kamal, Amany M.

Publication type:

Article

Screening of single nucleotide polymorphisms among fuchs' endothelial corneal dystrophy subjects in Malaysia.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00193-6

By:

Ng, Ker Hsin;
Subrayan, Visvaraja;
Ramachandran, Vasudevan;
Ismail, Fazliana

Publication type:

Article

MicroRNAs as the critical regulators of protein kinases in prostate and bladder cancers.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00190-9

By:

Zangoue, Malihe;
Zangouei, Amir Sadra;
Mojarrad, Majid;
Moghbeli, Meysam

Publication type:

Article

Decreased vitamin D levels in children with primary mono-symptomatic nocturnal enuresis.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00191-8

By:

El-Baz, Farida M.;
Abdelsayed, Marian G. R.;
Abdel-Hafeez, Aziza S.;
Abdelmageed, Reham I.

Publication type:

Article

Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00189-2

By:

Waheed, Nadia;
Ijaz, Sadaqat;
Fayyaz, Zafar

Publication type:

Article

Serum estrogen and its soluble receptor levels in Egyptian patients with acute leukemia: case-control study.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00186-5

By:

El-Kaream, Samir Ali Abd;
Ebied, Samia Abd El-Moneim;
Sadek, Nadia Ali;
Saad, Dina Mohamed;
Nadwan, Eman Attia

Publication type:

Article

A genetic variant of the NAMPT gene rs4730153 as a risk factor for the metabolic syndrome in younger age: a single-centre pilot study in Yogyakarta, Indonesia.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00187-4

By:

Puspasari, Anggelia;
Hastuti, Pramudji;
Sadewa, Ahmad Hamim;
Mus, Rosdiana;
Maharani, Citra;
Setyawati, Ika

Publication type:

Article

Protein secondary structure prediction (PSSP) using different machine algorithms.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00173-w

By:

Afify, Heba M.;
Abdelhalim, Mohamed B.;
Mabrouk, Mai S.;
Sayed, Ahmed Y.

Publication type:

Article

An association study between FokI, BsmI, miR-146a, and miR-155 and Behcet's disease in the Egyptian population.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00166-9

By:

Emara, Mohamed M.;
Mahmoud, Maiada M.;
Saad, Mohamed N.;
Mabrouk, Mai S.;
Hamed, Mohamed;
Shaker, Olfat G.

Publication type:

Article

Professor Rabah Mohamed Shawky, 1943-2021.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00188-3

By:

Elsayed, Solaf M.

Publication type:

Article

Vitamin D levels and vitamin D receptor genetic variants in Egyptian cardiovascular disease patients with and without diabetes.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00174-9

By:

Eweida, Soad M.;
Salem, Ahmed;
Shaker, Yehia M.;
Samy, Nervana;
Yassen, Ibrahim;
Mohamed, Rania Hassan

Publication type:

Article

Professor Rabah Mohamed Shawky, 1943–2021.

Published in:

2021

By:

Elsayed, Solaf M.

Publication type:

Editorial

SCGB3A1 gene DNA methylation status is associated with breast cancer in Egyptian female patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00185-6

By:

Nomair, Azhar Mohamed;
Ahmed, Sanaa Shawky;
Mohammed, Ayman Farouk;
El Mansy, Hazem;
Nomeir, Hanan Mohamed

Publication type:

Article

The prognostic impact of Wilms tumor-1 polymorphism (rs16754) and human myeloid inhibitory C-type lectin-like receptor expression in cytogenetically normal-acute myeloid leukemia.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00183-8

By:

Bedair, Hanan M.;
Attia, Mohamed H.;
Gohar, Suzy F.;
Khalaf, Fatma M.;
Badr El-DIN, Sahar;
Rabie, Hatem

Publication type:

Article

In silico investigations on curcuminoids from Curcuma longa as positive regulators of the Wnt/β-catenin signaling pathway in wound healing.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00182-9

By:

Reshad, Riyan Al Islam;
Alam, Sayka;
Raihan, Humaira Binte;
Meem, Kamrun Nahar;
Rahman, Fatima;
Zahid, Fardin;
Rafid, Md. Ikram;
Rahman, S. M. Obaydur;
Omit, Sadman;
Ali, Md. Hazrat

Publication type:

Article

Computer-aided design of some quinazoline analogues as epidermal growth factor receptor inhibitors.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00181-w

By:

Ibrahim, Muhammad Tukur;
Uzairu, Adamu;
Shallangwa, Gideon Adamu;
Uba, Sani

Publication type:

Article

Combined markers for predicting cognitive deficit in patients with Alzheimer's disease.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00184-7

By:

Hussen, Dalia Farouk;
Hussein, Ayat Allah Farouk;
Monzer, Mahmoud Abdel Moety;
Hammad, Saida Ali

Publication type:

Article

Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00159-8

By:

Arias, Sergio;
Paradisi, Irene;
Hernández, Alba;
Kanzler, Daniela

Publication type:

Article

Study of HOTAIR LncRNA in AML patients in context to FLT3-ITD and NPM1 mutations status.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00180-x

By:

Salah, Mona;
Zawam, Hamdy;
Fouad, Neven Bahaa;
Soliman, Nohair;
Maksoud, Fatma Abdel Wahab Abdel

Publication type:

Article

HLA-A gene knockout using CRISPR/Cas9 system toward overcoming transplantation concerns.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00155-y

By:

Amiri, Farshid;
Ranjbar, Maryam;
Pirouzfar, Mohammad;
Nourigorji, Marjan;
Dianatpour, Mehdi

Publication type:

Article

In silico studies of bioactive compounds from selected African plants with inhibitory activity against nitric oxide synthase and arginase implicated in asthma.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00175-8

By:

Umar, Haruna Isiyaku;
Saliu, Tolulope Peter;
Josiah, Sunday Solomon;
Ajayi, Adeola;
Danjuma, Jamilu Bala

Publication type:

Article

A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00178-5

By:

Al-Baba, Raghad;
Zetoune, Almoutassem Billah

Publication type:

Article

RUNX1 gene expression in Egyptian acute myeloid leukemia patients: may it have therapeutic implications?

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00179-4

By:

Said, Fadwa;
Shafik, Roxan E.;
Hassan, Naglaa M.

Publication type:

Article

RUNX1 gene expression in Egyptian acute myeloid leukemia patients: may it have therapeutic implications?

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00179-4

By:

Said, Fadwa;
Shafik, Roxan E.;
Hassan, Naglaa M.

Publication type:

Article

A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00176-7

By:

Timoshkina, Nataliya N.;
Gvaldin, Dmitry Y.;
Omelchuk, Ekaterina P.;
Vashhenko, Larisa N.;
Ausheva, Tatjana V.;
Kechedzhieva, Emma E.;
Kit, Oleg I.

Publication type:

Article

PERIOD3 gene P415A/H417R polymorphism-linked familial advanced sleep phase.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, p. 1, doi. 10.1186/s43042-021-00177-6

By:

Okechukwu, Chidiebere Emmanuel

Publication type:

Article