Search Results - "El Gammal, Mona"

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence by Temtamy, Samia A., Aglan, Mona S., Valencia, Maria, Cocchi, Guido, Pacheco, Maria, Ashour, Adel M., Amr, Khalda S., Helmy, Sanaa M.H., El-Gammal, Mona A., Wright, Michael, Lapunzina, Pablo, Goodship, Judith A., Ruiz-Perez, Victor L.

“…Previous work has shown Ellis–van Creveld (EvC) patients with mutations either in both alleles of EVC or in both alleles of EVC2. We now report affected…”
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Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature by Mazen, Inas H., El-Gammal, Mona A., Elaidy, Aya A., Anwar, Ghada M., Ashaat, Engy A., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S.

“…Early childhood obesity is a real public health problem worldwide. Identifying the etiologies, especially treatable and preventable causes, can direct health…”
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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development by Mazen, Inas, Mekkawy, Mona, Kamel, Alaa, Essawi, Mona, Hassan, Heba, Abdel‐Hamid, Mohamed, Amr, Khalda, Soliman, Hala, El‐Ruby, Mona, Torky, Ahmed, El Gammal, Mona, Elaidy, Aya, Bashamboo, Anu, McElreavey, Kenneth

“…Disorders/differences of sex development (DSD) comprise a group of congenital disorders that affect the genitourinary tract and usually involve the endocrine…”
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Clinical and Radiographic Evaluation of Immediate Loaded Dental Implants With Local Application of Melatonin: A Preliminary Randomized Controlled Clinical Trial by El-Gammal, Mona Y, Salem, Ahmed S, Anees, Mohamed M, Tawfik, Mohamed A

“…Immediate loading of dental implants in situations where low bone density exist, such as the posterior maxillary region, became possible recently after the…”
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Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis by Mazen, Inas, Abdel-Hamid, Mohamed, Mekkawy, Mona, Bignon-Topalovic, Joëlle, Boudjenah, Radia, El Gammal, Mona, Essawi, Mona, Bashamboo, Anu, McElreavey, Ken

“…The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility. Phenotypic variability could be due to…”
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Association of serum paraoxonase enzyme activity and oxidative stress markers with dyslipidemia in obese adolescents by Zaki, Moushira Erfan, El-Bassyouni, Hala, Kamal, Sanaa, El-Gammal, Mona, Youness, Eman

“…The aim of the present study was to investigate the serum paraoxonase 1 (PON1) concentration and oxidative stress markers and assess its relations with the…”
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A novel mutation in the leptin gene (W121X) in an Egyptian family by Mazen, Inas, Amr, Khalda, Tantawy, Sally, Farooqi, I Sadaf, El Gammal, Mona

“…Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been…”
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Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype by Zaki, Moushira, Kholoussi, Shams, Ismail, Somaia, Raouf, Haiam Abdel, Helwa, Iman, Hassan, Naglaa, Youness, Eman, Mohamed, Nadia A., Kamal, Sanaa, Yousef, Walaa, Shaker, Mohamed, Ezzat, Wafaa, Elhosary, Yasser A., Saleh, Omnia M., El Gammal, Mona, El-Bassyouni, HalaT, Ismail, Samira, Bibars, Mamdouh, Azmy, Osama

“…Polycystic ovary syndrome (PCOS) is the most common endocrine disorder. It is associated with high prevalence of metabolic risk factors, but little is known…”
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Assessment of pubertal development in Egyptian girls by Hosny, Laila A, El-Ruby, Mona O, Zaki, Moushira E, Aglan, Mona S, Zaki, Maha S, El Gammal, Mona A, Mazen, Inas M

“…Puberty is a significant event of human growth and maturation associated with marked physiological and psychological changes. The aim of this study was to…”
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Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene by Wabitsch, Martin, Funcke, Jan-Bernd, von Schnurbein, Julia, Denzer, Friederike, Lahr, Georgia, Mazen, Inas, El-Gammal, Mona, Denzer, Christian, Moss, Anja, Debatin, Klaus-Michael, Gierschik, Peter, Mistry, Vanisha, Keogh, Julia M, Farooqi, I. Sadaf, Moepps, Barbara, Fischer-Posovszky, Pamela

“…Context: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We recently characterized a mutation in the leptin gene (p.D100Y),…”
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The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy by Ashaat, Engy A., Ahmed, Hoda A., Elaraby, Nesma M., Fayez, Alaaeldin, Metwally, Ammal M., Mekkawy, Mona K., Hussen, Dalia Farouk, Ashaat, Neveen A., Elhossini, Rasha M., ElAwady, Heba Ahmed, Abdelgawad, Randa H. A., Gammal, Mona El, Al Kersh, Mohamed Ahmed, Saleh, Dina Amin

“…Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations…”
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AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges by El Gammal, Mona, Aglan, Mona, Temtamy, Samia

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Indicators of the metabolic syndrome in obese adolescents by Zaki, Moushira Erfan, El-Bassyouni, Hala T, El-Gammal, Mona, Kamal, Sanaa

“…To assess the prevalence of metabolic risk indicators for the metabolic syndrome (MS) in a sample of obese Egyptian adolescents and to compare anthropometric…”
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Biochemical diagnosis of Sanfilippo disorder types A and B by Nosier, Soha S, El Nakeeb, Seham M. S, Ibrahim, Mona M, El-Gammal, Mona, Fateen, Ekram M

“…Background One of the 11 recognized mucopolysaccharidosis (MPS) diseases is Sanfilippo. It is autosomal recessive in its mode of transmission. There are four…”
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Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome by Mazen, Inas, El-Gammal, Mona, McElreavey, Ken, Elaidy, Aya, Abdel-Hamid, Mohamed S

“…Anti-müllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression…”
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Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development by Tantawy, Sally, Mazen, Inas, Soliman, Hala, Anwar, Ghada, Atef, Abeer, El-Gammal, Mona, El-Kotoury, Ahmed, Mekkawy, Mona, Torky, Ahmad, Rudolf, Agnes, Schrumpf, Pamela, Grüters, Annette, Krude, Heiko, Dumargne, Marie-Charlotte, Astudillo, Rebekka, Bashamboo, Anu, Biebermann, Heike, Köhler, Birgit

“…ObjectiveSteroidogenic factor 1 (SF1, NR5A1) is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–gonadal axis. Recently, SF1…”
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Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene by Mazen, Inas, Ismail, Samira, Amr, Khalda, El Gammal, Mona, Abdel-Hamid, Mohamed

“…To study the vitamin D receptor (VDR) gene in five Egyptian patients with severe rickets and the clinical features of hereditary vitamin D-resistant rickets,…”
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Clinical research: Indicators of the metabolic syndrome in obese adolescents by Zaki, Moushira Erfan, El-Bassyouni, Hala T, El-Gammal, Mona, Kamal, Sanaa

“…Introduction: To assess the prevalence of metabolic risk indicators for the metabolic syndrome (MS) in a sample of obese Egyptian adolescents and to compare…”
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A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family by Mazen, Inas, Soliman, Hala, El-Gammal, Mona, Torky, Ahmed, Mekkawy, Mona, Abdel-Hamid, Mohamed S, Essawi, Mona

“…Androgen insensitivity syndrome (AIS) results from resistance of the target tissues to the effect of the androgenic hormones producing a phenotype with varying…”
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Early-loaded laser-sintered versus acid-etched one-piece dental implants for mandibular premolars replacement: a preliminary study by El-Gammal, Mona, Ghoneem, Nahed, Tawfik, Heba, Madina, Manal Abou, Fadhil, Omar N, Maria, Ola M

“…Early loading of dental implants can simplify treatment and increase patient's satisfaction. This 1-year preliminary clinical trial aimed to clinically and…”
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