Search Results - "Zaki, S. M."

Hippocampal and cortical primary cilia are required for aversive memory in mice by Berbari, Nicolas F, Malarkey, Erik B, Yazdi, S M Zaki R, McNair, Andrew D, Kippe, Jordyn M, Croyle, Mandy J, Kraft, Timothy W, Yoder, Bradley K

“…It has been known for decades that neurons throughout the brain possess solitary, immotile, microtubule based appendages called primary cilia. Only recently…”
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Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice by Berbari, Nicolas F., Pasek, Raymond C., Malarkey, Erik B., Yazdi, S. M. Zaki, McNair, Andrew D., Lewis, Wesley R., Nagy, Tim R., Kesterson, Robert A., Yoder, Bradley K.

“…Although primary cilia are well established as important sensory and signaling structures, their function in most tissues remains unknown. Obesity is a feature…”
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Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect by Otaify, G. A., Abdel-Hamid, M. S., Mehrez, M. I., Aboul-Ezz, E., Zaki, M. S., Aglan, M. S., Temtamy, S. A.

“…Summary This is the first Egyptian study with detailed clinical and orodental evaluation of eight patients with pycnodysostosis and identification of four…”
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Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders by Saleem, S.N, Zaki, M.S

“…JSRD are rare autosomal recessive brain malformations. We hypothesized that MR imaging can assess fetuses at risk for JSRD and might influence their diagnoses…”
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Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation by Zaki, M.S., Issa, M.Y., Elbendary, H.M., El‐Karaksy, H., Hosny, H., Ghobrial, C., El Safty, A., El‐Hennawy, A., Oraby, A., Selim, L., Abdel‐Hamid, M.S.

“…Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early‐onset dystonia, and…”
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Spectral studies of Co substituted Ni–Zn ferrites by Amer, M.A., Tawfik, A., Mostafa, A.G., El-Shora, A.F., Zaki, S.M.

“…The spinel ferrites Zn 0.35Ni 0.65− x Co x Fe 2O 4, 0≤ x≤1, have been prepared using the standard ceramic technique. Room temperature Mössbauer, X-ray and…”
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PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation by Abdel‐Hamid, M.S., Issa, M.Y., Otaify, G.A., Abdel‐Ghafar, S.F., Elbendary, H.M., Zaki, M.S.

“…Background Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol…”
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Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation by Mohamed, A M, El-Bassyouni, H T, El-Gerzawy, A M, Hammad, S A, Helmy, N A, Kamel, A K, Ismail, S I, Issa, M Y, Eid, O, Zaki, M S

“…Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum…”
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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families by HANNA, R. M, MARSH, S. E, BOGLARKA, B, DIETRICH, R. B, DOBYNS, W. B, TRUWIT, C. L, SATTAR, S, CHUANG, N. A, SHERR, E. H, GLEESON, J. G, SWISTUN, D, AL-GAZALI, L, ZAKI, M. S, ABDEL-SALAM, G. M, AL-TAWARI, A, BASTAKI, L, KAYSERILL, H, RAJAB, A

“…We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for…”
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Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D by Shaheen, R., Al-Owain, M., Khan, A.O., Zaki, M.S., Hossni, H.A.A., Al-Tassan, R., Eyaid, W., Alkuraya, F.S.

“…Arthrogryposis refers to congenital contracture in at least two different body parts. When distal joints are primarily involved, the term distal arthrogryposis…”
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Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders by Saleem, S N, Zaki, M S, Soliman, N A, Momtaz, M

“…We report on the prenatal MRI diagnosis of Joubert syndrome and related cerebellar disorders (JSRD) in 2 unrelated fetuses at 17-18 weeks of gestation who were…”
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Serious fungal infections in Egypt by Zaki, S. M., Denning, D. W.

“…We aimed to estimate the burden of serious fungal infections in Egypt, currently unknown, based on the size of the populations at risk and available…”
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Evaluation of antioxidant and anti-lipid peroxidation potentials of Nigella sativa and onion extract on nicotine-induced lung damage by Zaki, S M

“…The present work aimed to compare the protective effect of Nigella sativa (NS) and onion extract on the nicotine-induced lung damage in rats. The antioxidant…”
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Dermatophyte Infections in Cairo, Egypt by Zaki, S. M, Ibrahim, N, Aoyama, K, Shetaia, Y. M, Abdel-Ghany, K, Mikami, Y

“…In this study, we examined dermatophyte infections in patients referred to the Department of Dermatology, EL-Houd El-Marsoud Hospital, Cairo, during March 2004…”
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Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy by Abdel-Aleem, A., Zaki, M. S.

“…We describe an Egyptian family having SCA2 affecting three generations with marked molecular and clinical anticipation observed in the index case. Our proband…”
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Ring chromosome 15: expanding the phenotype by Eid, M M, El-Bassyouni, H T, Eid, O M, Hamad, S A, Elgerzawy, A, Zaki, M S, El-Ruby, M

“…Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the literature to date. We report the clinical and cytogenetic evaluation of a…”
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Protective effect of resveratrol on acrylamide-induced renal impairment by Nasralla, M. M., Zaki, S. M., Attia, R. A.

“…BACKGROUND: Acrylamide (ACR) has a wide range of uses. It possesses a renal impairment effect. The work aimed to study the possible protecting role of…”
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Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study by El-Bassyouni, H T, Abdel Salam, G H, Saleem, S N, Kayed, H F, Shehab, M I, Eid, M M, Zaki, M E, Zaki, M S

“…We report 24 patients with holoprosencephaly (HPE) spectrum screened for Del 7q36 and subtelomere 13q. They were divided according to the type of HPE into: 6…”
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Chilblains as a diagnostic sign of aicardi-goutières syndrome by Abdel-Salam, G M H, El-Kamah, G Y, Rice, G I, El-Darouti, M, Gornall, H, Szynkiewicz, M, Aymard, F, Zaki, M S, Abdel-Aleem, A K, Lebon, P, Crow, Y J

“…Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder showing variability in age of onset and clinical features. Chilblain lesions have been…”
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The differential effects of high-fat and high fructose diets on the liver of male albino rat and the proposed underlying mechanisms by Zaki, Sherif Mohamed, Abdel Fattah, Shereen, Hassan, Dina Salah

“…Background: The Western-style diet is characterised by the high intake of energy- -dense foods. Consumption of either high-fructose diet or saturated fat…”
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