Circulating miRNAs 21 and 221 as biomarkers for early diagnosis of prostate cancer S Kotb, A Mosharafa, M Essawi, H Hassan, A Meshref, A Morsy Tumor biology 35, 12613-12617, 2014 | 52 | 2014 |
Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases WE Sharaf-Eldin, NA Kishk, YZ Gad, H Hassan, MAM Ali, MS Zaki, ... Journal of the neurological sciences 383, 188-198, 2017 | 47 | 2017 |
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development I Mazen, M Mekkawy, A Kamel, M Essawi, H Hassan, M Abdel‐Hamid, ... American Journal of Medical Genetics Part A 185 (6), 1666-1677, 2021 | 20 | 2021 |
Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients HA Hassan, MS Zaki, MY Issa, NM El-Bagoury, ML Essawi Egyptian Journal of Medical Human Genetics 21, 1-7, 2020 | 19 | 2020 |
Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated with 46, XY Disorders of Sex Development in Egyptian Patients RT Engeli, M Tsachaki, HA Hassan, CP Sager, ML Essawi, YZ Gad, ... The journal of sexual medicine 14 (9), 1165-1174, 2017 | 15 | 2017 |
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development I Mazen, H Amin, A Kamel, M El Ruby, J Bignon-Topalovic, A Bashamboo, ... Sexual Development 10 (1), 16-22, 2016 | 15 | 2016 |
Roberts syndrome: clinical and cytogenetic studies in 8 Egyptian patients and molecular studies in 4 patients with genotype/phenotype correlation S Ismail, M Essawi, N Sedky, H Hassan, A Fayez, N Helmy, M Shehab, ... Genet Couns 27 (3), 305-323, 2016 | 14 | 2016 |
Novel mutations of the LHCGR gene in two families with 46, XY DSD causing Leydig cell hypoplasia I HA Hassan, ML Essawi, MK Mekkawy, I Mazen Hormones 19, 573-579, 2020 | 12 | 2020 |
WT1 gene mutation, p. R462W, in a 46, XY DSD patient from Egypt with gonadoblastoma and review of the literature I Mazen, H Hassan, A Kamel, M Mekkawy, K McElreavey, M Essawi Sexual Development 11 (5-6), 280-283, 2018 | 11 | 2018 |
A Novel Nonsense Mutation in Exon 1 of HSD17B3 Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea HA Hassan, I Mazen, YZ Gad, OSM Ali, M Mekkawy, ML Essawi Sexual Development 7 (6), 277-281, 2013 | 11 | 2013 |
Mutational profile of 10 afflicted Egyptian families with 17-β-HSD-3 deficiency HA Hassan, I Mazen, YZ Gad, OSM Ali, M Mekkawy, ML Essawi Sexual Development 10 (2), 66-73, 2016 | 8 | 2016 |
Unique karyotype: mos 46, X, dic (X; Y)(p22. 33; p11. 32)/45, X/45, dic (X; Y)(p22. 33; p11. 32) in an Egyptian patient with Ovotesticular disorder of sexual development IM Mazen, AK Kamel, AM Mohamed, HA Hussien, ML Essawi, HA Hassan, ... Sexual Development 7 (5), 235-243, 2013 | 8 | 2013 |
First report of two egyptian patients with desbuquois dysplasia due to homozygous CANT1 mutations MM Thomas, EA Ashaat, GA Otaify, S Ismail, ML Essawi, MS Abdel-Hamid, ... Molecular Syndromology 12 (5), 279-288, 2021 | 7 | 2021 |
MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13. 2 genes with disease phenotype in Egyptian patients HA Hassan, NA Fahmy, NM El-Bagoury, NR Eissa, WE Sharaf-Eldin, ... Egyptian Journal of Medical Human Genetics 23 (1), 156, 2022 | 4 | 2022 |
Genetic diagnosis of Prader–Willi syndrome AA Khedr, NA Meguid, AM Mohamed, SR Ismail, NA Nazmy, HA Hassan, ... Middle East Journal of Medical Genetics 5 (2), 45-53, 2016 | 3 | 2016 |
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene ML Essawi, EM Fateen, HA Atia, NR Eissa, EH Aboul-Ezz, MM Ibrahim, ... Journal of Genetic Engineering and Biotechnology 19 (1), 111, 2021 | 2 | 2021 |
SMA carrier testing using Real-time PCR as a potential preconception screening tool NR Eissa, HA Hassan, SM Senousy, HN Soliman, ML Essawi Egyptian Journal of Medical Human Genetics 23 (1), 24, 2022 | 1 | 2022 |
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt M Essawi, I Mazen, L Fawaz, H Hassan, N ElBagoury, M Peter, K Gaafar, ... Journal of Pediatric Endocrinology and Metabolism 33 (7), 893-900, 2020 | 1 | 2020 |
Novel Sequence Variants in the NPC1 Gene in Egyptian Patients with Niemann-Pick Type C ML Essawi, AF Abdel-Aleem, MA Badawy, MS Zaki, MF Mohamed, ... Open Access Macedonian Journal of Medical Sciences 8 (A), 134-145, 2020 | | 2020 |
Novel heterozygous mutation in Wilms tumor 1 gene in patient with mixed gonadal dysgenesis (MGD) HA Hassan, ML Essawi, MK Mekkawy, A Kamel, I Mazen | | 2019 |