25 results on '"El Sherif, Rasha"'
Search Results
2. Estimating Societal Cost of Illness and Patients’ Quality of Life of Duchenne Muscular Dystrophy in Egypt
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Shehata, Zahraa Hassan, Rabea, Hoda, El Sherif, Rasha, Abdelrahim, Mohamed E., and Dawoud, Dalia M.
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- 2023
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3. Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD
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El Sherif, Rasha, primary, Saito, Yoshihiko, additional, Awaya, Tomonari, additional, Noguchi, Satoru, additional, and Nishino, Ichizo, additional
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- 2024
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4. A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review.
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El Sherif, Rasha, Saito, Yoshihiko, Hussein, Rasha S., Izu, Yayoi, Koch, Manuel, Noguchi, Satoru, and Nishino, Ichizo
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RECTUS femoris muscles , *FETAL growth retardation , *KNEE joint , *WHOLE genome sequencing , *VASTUS lateralis , *PATELLOFEMORAL joint , *HYPERTROPHIC scars , *FIBRONECTINS - Abstract
This article provides information on myopathic Ehlers-Danlos syndrome (mEDS), a rare genetic disorder. It discusses the similarities and differences between mEDS and Ullrich congenital muscular dystrophy (UCMD). The study suggests that genetic analysis, muscle imaging, and muscle pathology can help distinguish between the two conditions. The article presents a case report of a 23-month-old girl with severe phenotypes of mEDS. It also includes a table with alphanumeric data about individuals with different conditions, but the purpose of the table is unclear without further information. Additionally, the article discusses muscle MRI data comparing a patient with mEDS to a patient with UCMD, highlighting differences in muscle involvement. The study also examines muscle biopsies and identifies a novel genetic variant associated with the most severe phenotype of mEDS. Overall, the article emphasizes the importance of various diagnostic tools in differentiating mEDS from UCMD/BM. [Extracted from the article]
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- 2024
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5. Virulent Escherichia coli strains among Egyptian patients with acute diarrhoea versus urinary tract infection, and their antibiotic susceptibility
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Tharwat, Nagwa, El-Sherif, Rasha, Elnagdy, Sherif, Marzaban, Raghda, and Amer, Sabah
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- 2019
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6. “Boule du biceps” in dysferlinopathy
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El Sherif, Rasha, Hussein, Rasha S., and Nishino, Ichizo
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- 2020
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7. A 53‐year‐old man with a 16‐year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging
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Tanboon, Jantima, primary, El Sherif, Rasha, additional, Inoue, Michio, additional, Okubo, Mariko, additional, Malfatti, Edoardo, additional, and Nishino, Ichizo, additional
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- 2023
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8. International Nosocomial Infection Control Consortium report, data summary of 50 countries for 2010-2015: Device-associated module
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Desse, J.E., Maurizi, D.M., Montanini, A.M., Chaparro, G.J., Stagnaro, J.P., Romani, A., Bianchi, A.C., Álvarez, G., Palaoro, A., Bernan, M., Cabrera-Montesino, R., Domínguez, C., Rodríguez, C.G., Silva, C.G., Bogdanowicz, E., Riera, F.O., Benchetrit, G., Perez, I., Vimercati, J., Marcos, L.S., Ramasco, L., Caridi, M., Oyola, M.C., Rodríguez, M.C., Spadaro, M.L., Olivieri, M.S., Saul, P., Juarez, P.D., Pérez, R.H., Botta, P., Quintana, D.Q., Ríos, A.M., Chediack, V., Chilon, W., Alsayegh, Ameena Isa, Yaseen, Fatema Hasan, Hani, Lateefa Fardan, Sowar, Saleh Fakher, Magray, Tahira Anwar, Medeiros, E.A., Alves De Oliveira, A., Romario-Mendes, A., Fernandes-Valente, C., Santos, C., Escudeiro, D., Azevedo-Ferreira Lima, D., Azevedo-Pereira, D., Onzi-Siliprandi, E.M., Serpa-Maia, F., Aguiar-Leitao, F., Assuncao-Ponte, G., Dos Anjos-Lima, J., Olszewski, J., Harten Pinto Coelho, K., Alves De Lima, L.F., Mendonca, M., Maciel-Canuto Amaral, M.L., Tenorio, M.T., Gerah, S., Andrade-Oliveira-Reis, M., Moreira, M., Ximenes-Rocha Batista, M., Campos-Uchoa, R.S., Rocha-Vasconcelos Carneiro, R., Amaral De Moraes, R., Do Nascimento, S.C., Moreira-Matos, T., Lima-De Barros Araujo, T.M., De Jesus Pinheiro-Bandeira, T., Machado-Silva, V.L., Santos Monteiro, W.M., Hristozova, E., Kostadinov, E.D., Angelova, K., Velinova, V.A., Dicheva, V.J., Guo, X., Ye, G., Li, R., Song, L., Liu, K., Liu, T., Song, G., Wang, C., Yang, X., Yu, H., Yang, Y., Martínez, A., Vargas-García, A.R., Lagares-Guzmán, A., González, A.P., Linares, C., Ávila-Acosta, C., Santofimio, D., Yepes-Gomez, D., Marin-Tobar, D.A., Mazo-Elorza, D.P., Chapeta-Parada, E.G., Camacho-Moreno, G., Roncancio-Vill, G.E., Valderrama-Marquez, I.A., Ruiz-Gallardo, J.E., Ospina-Martínez, J.O., Osorio, J., Marín-Uribe, J.I., López, J.C., Gualtero, S., Rojas, J.R., Gomez-Nieto, K., Rincon, L.Y.M., Meneses-Ovallos, L., Canas-Giraldo, L.M., Burgos-Florez, L.D., Amaral-Almeida Costa, M., Rodriguez, M., Barahona-Guzmán, N., Mancera-Paez, O., Rios-Arana, P.A., Ortega, R., Romero-Torres, S.L., Pulido-Leon, S.M., Valderrama, S., Moreno-Mejia, V.M., Raigoza-Martinez, W., Villamil-Gomez, W., Pardo-Lopez, Y.A., Argüello-Ruiz, A., Solano-Chinchilla, A., Muñoz-Gutierrez, G.A., Calvo-Hernández, I., Maroto-Vargas, L., Zuniga, M.A., Valverde-Hernandez, M., Chavarria-Ugalde, O., Herrera, B., Díaz, C., Bovera, M.M., Cevallos, C., Pelaez, C., Jara, E., Delgado, V., Coello-Gordon, E.E., Picoita, F., Guerrero-Toapant, F.M., Valencia, F., Santacruz, G., Gonzalez, H., Pazmino, L.N., Garcia, M.F., Arboleda, M., Lascano, M., Alquinga, N., Ramírez, V., Yousef, Reham H.A., Moustafa, Abd El Moniem, Ahmed, A., Elansary, A.M., Ali, Ahmad Mahmoud, Hasanin, Ahmed, Messih, Antoine Abdel, Ramadan, Arwa, El Awady, B.A., Hassan, D.M., Abd El Aziz, Doaa, Hamza, Hala, Agha, Hala Mounir, Ghazi, Islam Abdullorziz, ElKholy, J., Fattah, May Abdel, Elanany, Mervat, Mansour, M., Haleim, M.M.A., Fouda, R., El-Sherif, Rasha Hamed, Bekeit, S., Bayani, V., Elkholy, Y.S., Abdelhamid, Y.M., Salah, Zeinab, Rivera, D.M., Chawla, A., Manked, A.N., Azim, A., Mubarak, A., Thakur, A., Dharan, A.V., Patil, A., Sasidharan, A., Bilolikar, Anil Kumar, Anirban Karmakar, A., Mathew, A.M., Kulkarni, Anuja, Agarwal, Anuradha, Sriram, Anuradha, Dwivedy, A., Dasgupta, Arnab, Bhakta, A., Suganya, Arul Rose, Poojary, A., Mani, Ashwin Kumar, Sakle, Asmita, Abraham, Babu K., Padmini, Baby, Ramachandran, B., Ray, Banambar, Pati, Basanta Kumar, Chaudhury, Bhaskar Narayan, Mishra, Biraj Mohan, Biswas, S., Saibala, M. Bri, Jawadwala, Burhan Q., Rodrigues, C., Modi, Chirag, Patel, Chirag, Khanna, D.K., Devaprasad, Dedeepiya, Divekar, Deepa, Aggarwal, Deepesh G., Divatia, J.V., Zala, Dolatsinh, Pathrose, Edwin, Abubakar, Fazil, Chacko, Felcy, Gehlot, G.S., Khanna, Gautam, Sale, H.K., Roy, Indranil, Shelgaonkar, Jayant, Sorabjee, Jehangir, Eappen, Jincy, Mathew, Justin, Pal, Jyotishka, Varma, Karthikeya, Joshi, Kashmira Limaye, Sandhu, Kavita, Kelkar, R., Ranganathan, Lakshmi, Pushparaj, L., Lavate, Madhav, Latha, Madhavi, Suryawanshi, Madhupriya, Bhattacharyya, M., Kavathekar, Maithili, Agarwal, Manoj Kumar, Patel, Mayur, Shah, Mehul, Sivakumar, M.N., Kharbanda, Mohit, Bej, Mrinmoy, Potdar, Mrunalini, Chakravarthy, M., Karpagam, M., Myatra, S.N., Gita, N., Rao, N.P., Sen, N., Ramakrishnan, N., Jaggi, N., Saini, N., Pawar, N.K., Modi, Nikhil, Pandya, Nirav, Mohanty, Nisith, Thakkar, Pooja, Joshi, Pradnya, Sahoo, Prafulla Kumar, Nair, Pravin Kumar, Kumar, Priyadarshini Senthil, Patil, Priyanka, Mukherjee, Purnima, Mathur, P., Shah, Purvi, Sukanya, R., Arjun, Rajalakshmi, Chawla, Rajesh, Gopalakrishnan, Ram, Venkataraman, Ramesh, Raut, S., Krupanandan, Ravikumar, Tejam, Reshma, Misra, Richa, Debroy, Ritesh, Saranya, S., Narayanan, Sajith, Mishra, Sanghamitra, Saseedharan, Sanjith, Sengupta, Sankar, Patnaik, S.K., Sinha, Saswati, Blessymole, Seelas, Rohra, Seema, Rajagopal, Senthilkumar, Mukherjee, Shanta, Sengupta, Sharmila, John, Sheeba, Bhattacharya, Shefali, Sijo, Bhattacharyya, Sinchan, Singh, S., Sohanlal, T., Vadi, Sonali, Dalal, S.S., Todi, S.K., Kumar, Subodh, Kansal, Sudha, Misra, Sudhjan, Bhattacharyya, Sudipta, Nirkhiwale, Suhas, Purkayastha, Sujit Kar, Mukherjee, Sujoy, Sahu, S., Sharma, Sunil, Kumar, Suresh, Basu, S., Shetty, S., Shah, S., Singhal, T., Francis, Thara, Anand, Thejasvini, Venkateshwar, V., Thomas, Valsa, Kothari, V., Velupandi, Kantroo, Vini, Sitohang, Gortap, Kadarsih, Retno, Sanaei, Anahita, Maghsudi, Behzad, Sabetian, Golnar, Masjedi, Mansoor, Alebouyeh, Masoud, Sherafat, Somayeh Jahani, Mohamed, Yassir Khidir, Al Khamis, Abdulrahim, Alsaadi, Adnan Soliman, Al-Jarie, Ahmed Abdoh, Mutwalli, Aisha Hassan, Rillorta, A.S.K., Thomas, Anumol, Kelany, Ashraf, Manao, Athena, Alamri, Dhaffer Moghram, Santiago, E.B., Cruzpero, E.P., Sawan, Fahad Ahmed, Al Qasmah, Fatima Abdullah, Alabdaly, Haeel, Al-Dossary, Hajer Am, Ahmed, Hala, Roshdi, Hala, Al-Alkami, Halima Yahia, Hanafi, Hana, Ammari, Hassan Eisa, Hani, Hatem Mohd Al, Asiri, Ibrahim A.M. Alzaydani, Mendoza, Jeffrey Asidera, Philipose, Jomol, Selga, Joy Ola, Kehkashan, Ghalilah, Khalid Mohammed, Redito, Leide Shyrine, Josph, L., Al-Alawi, M., Al-Gethamy, Manal Mansour, Madco, Marjory, Manuel, M.G., Girvan, M., Aldalaton, Mervat, De Guzman, M., Alkhamaly, Modhi, Masfar, Mohammad, Karrar, Mohammed Ahmed Ali, Al Azmi, Munayfa Musallam, Quisai, Myrna Lim, Torres, Myrna Misador, Al-Abdullah, N., Tawfic, Nader Ahmed, Elsayed, Nashwa, Abdulkhalik, Nawal Salah, Bugis, Nehad Abdulshakour, Ariola, Neilia Cardinal, Gad, N., Alghosn, Nesreen, Tashkandi, Nidal, Zharani, N. Al, De Vera, P.A., Krishnan, Radhika, Al Shehri, Raed Hassan, Jaha, Rasha Nour Aldeen, Thomas, Reny, Cresencia, Rhea Lynn, Penuliar, R., Lozada, R.V., Al Qahtani, S., Twfik, Sameh, Al Faraj, Sarah Hassan, El-Sherbiny, Sherin, Alih, Siti Jhulmina B., Briones, Solita, Bukhari, Syed Zahid, Alotaibi, Tariq Saad Abdulhadi, Gopal, Uma, Nair, Usha, Abdulatif, Wael Abdulrahman, Hussain, Waleed Mohd, Demotica, Wynndale Mae, Spahija, G., Baftiu, N., Gashi, A., Omar, Abeer A., Mohamed, A.M., Rebello, F.M., Almousa, Haifaa Hassan, Abdo, Naglaa Mahmoud, George, S.M., Khamis, Soad, Thomas, Suja, Ahmad Zaatari, A., Anwar Al Souheil, A., Ayash, H., Zeid, I., Tannous, J., Zahreddine, N.K., Ahmadieh, R., Mahfouz, T., Kardas, T., Tanzi, V., Kanafani, Z., Hammoud, Z., Dagys, A., Grinkeviciute, D., Kevalas, R., Kondratas, T., Petrovska, Milena, Popovska, Katja, Mitrev, Zan, Miteva, Zaneta Bogoevska, Jankovska, Katerina, Guroska, Snezana Tufekcievska, Gan, Chin Seng, Othman, Ainul Auzani, Yusof, Aliza Mohamad, Abidin, Anis Siham Zainal, Aziz, Fadzlina Abdul, Weng, Foong Kit, Zainol, Hasimah, Bakar, Kamal Bashar Abu, Lum, Lucy Chai See, Mansor, Marzida, Zaman, Mazuin Kamarul, Jamaluddin, Mohamad Fadhil Hadi, Hasan, Mohd Shahnaz, Rahman, Raha Abdul, Zaini, Rhendra Hardy Mohamad, Zhazali, Rosliza, Sri Ponnampala, Sasheela Sri La, Chuah, Soo Lin, Shukeri, Wan Fadzlina Wan Mohd, Hassan, Wan Nazaruddin Wan, Yusoff, Wan Nurbayah Wan, Mat, Wan Rahiza Wan, Cureno-Diaz, M.A., Aguirre-Avalos, G., Flores-Alvarado, A., Cerero-Gudino, A., Zamores-Pedroza, A., Cano-Munoz, B., Hernandez-Chena, B.E., Carreon-Martinez, C.C., Coronado-Magana, H., Corona-Jimenez, F., Rodriguez-Noriega, E., Alcala-Martinez, E., Gonzalez-Diaz, E., Guerra-Infante, F.M., Arteaga-Troncoso, G., Martinez-Falcon, G., Leon-Garnica, G., Delgado-Aguirre, H.A., Perez-Gomez, H.R., Sosa-Gonzalez, I.E., Galindo-Olmeda, J.A., Ayala-Gaytan, J.J., Rodriguez-Pacheco, J., Zamorano-Flores, L., Lopez-Pulgarin, J.A., Miranda-Novales, M.G., Ramírez, M., Lopez-Hurtado, M., Lozano, M., Gomez, M.E., Sanchez-Castuera, M.E., Kasten-Monges, M., Gonzalez-Martinez, M., Sanchez-Vargas, M., Culebro-Burguet, M.C., Altuzar-Figueroa, M.A., Mijangos-Mendez, J.C., Ramires, O.G., Espinosa, O.S., De Leon-Escobedo, R., Salas-Flores, R., Ruiz-Rendon, R., Petersen-Morfin, S., Aguirre-Diaz, S.A., Esparza-Ahumada, S., Vega-Gonzalez, S., Gaona-Flores, V., Monroy-Colin, V.A., Cruz-Rivera, Z., Bat-Erdene, A., Narankhuu, Batsaikhan, Choijamts, Batsuren, Tuvdennyam, Battsetseg, Batkhuu, Byambadorj, Chuluunchimeg, K.H., Enkhtsetseg, D., Batjargal, G., Bayasgalan, G., Dorj, M., Mendsaikhan, Naranpurev, Baatar, Otgon, Suvderdene, P., Baigalmaa, S., Khajidmaa, T., Begzjav, Tsolmon, Tsuyanga, Ariyasuren, Z., Zeggwagh, A.A., Berechid, K., Abidi, K., Madani, N., Abouqal, R., Koirala, Anjeela, Giri, Rashmi, Sainju, Samana, Acharya, Subhash Prasad, Ahmed, Abeera, Raza, Aun, Parveen, Azra, Sultan, Faisal, Khan, Maria, Paul, Nadeem, Daud, Nargis, Yusuf, Sana, Nizamuddin, Summiya, Garcia-Mayorca, E., Castaño, E.G., Moreno-Castillo, J.L., Ballinas-Aquino, J.M., Lara, L., Vargas, M., Rojas-Bonilla, M.I., Ramos, S.J., Mapp, T., De Iturrado, V., La Hoz Vergara, C.E., Linares-Calderon, C.F., Moreno, D., Ramirez, E., Ramírez Wong, F.M., Montenegro-Orrego, G.M., Sandoval-Castillo, H.R., Pichilingue-Chagray, J., Mueras-Quevedo, J., Aibar-Yaranga, K.F., Castillo-Bravo, L.I., Santivanez-Monge, L.M., Mayorga-Espichan, M.J., Rosario-Tueros, M.L.G., Changano-Rodriguez, M.V., Salazar-Ramirez, N.E., Marquez-Mondalgo, V.A., Tajanlangit, Anna Lyn N., Tamayo, Arnefelina S., Llames, Cristina Mari Jean P., Labro, Ever, Dy, Ana P., Fortin, J.D., Bergosa, L.D., Salvio, L.G., Bermudez, V., Sg-Buenaflor, M.C., Trajano, M.F., Mendoza, M.T., Javellana, O.P., Maglente, R.R., Arreza-Galapia, Y., Navoa-Ng, J.A., Kubler, A., Barteczko-Grajek, B., Dragan, B., Zurawska, M., Mikaszewska-Sokolewicz, M., Zielinska, M., Ramos-Ortiz, G.Y., Florin-Rogobete, A., Vlad, C. Daliborca, Muntean, D., Sandesc, D., Papurica, M., Licker, M., Bedreag, Ovidiu Horea, Popescu, R., Grecu, S.D., Dumitrascu, V., Molkov, A., Galishevskiy, D., Furman, M., Simic, A., Lekic, D., Ristic, G., Eremija, J., Kojovic, J., Nikolic, L., Bjelovic, M., Lesnakova, A., Hlinkova, S., Gamar-Elanbya, M.O., Supa, Namphon, Prasan, Pornpheth, Pimathai, Rungratchanee, Wanitanukool, Suthinee, Somabutr, Suwara, Ben-Jaballah, N., Borgi, A., Bouziri, A., Dilek, A., Oncul, A., Kaya, A., Demiroz, Ali Pekcan, Gunduz, A., Ozgultekin, A., Inan, Asuman, Yalcin, A.N., Ramazanoglu, A., Engin, A., Willke, A., Meco, Basak Ceyda, Aygun, C., Bulut, C., Uzun, C., Becerik, C., Hatipoglu, Cigdem Ataman, Guclu, Cigdem Yildirim, Ozdemir, D., Yildizdas, D., Ugurcan, D., Azak, E., Guclu, E., Yilmaz, Esmeray Mutlu, Sebnem-Erdinc, F., Sirmatel, F., Ulger, F., Sari, Ferhat, Kizilates, Filiz, Usluer, G., Ceylan, G., Ersoz, G., Kaya, G., Ertem, Gunay Tuncer, Senol, G., Agin, Hasan, Cabadak, Hatice, Yilmaz, H., Sungurtekin, Hulya, Zengin, Humeyra, Turgut, H., Ozgunes, I., Devrim, I., Erdem, I., Işcanlı, Inşa Gul Ekiz, Bakir, M. Mehmet, Geyik, M.F., Oral, M., Meric, M., Cengiz, M., Ozcelik, M., Altindis, M., Sunbul, M., Elaldi, N., Kuyucu, N., Unal, N., Oztoprak, N., Yasar, N., Erben, Nurettin, Bayram, Nuri, Dursun, Oguz, Karabay, Oguz, Coskun, O., Horoz, Ozden Ozgur, Turhan, Ozge, Sandal, Ozlem Sarac, Tekin, Recep, Esen, Saban, Erdogan, Selvi Yener, Unal, Serhat, Karacorlu, Sevim, Sen, Suha, Sacar, Suzan, Yarar, Volkan, Oruc, Yeliz, Sahip, Yusuf, Kaya, Zeynep, Philip, Anamma, Elhoufi, Ashraf, Alrahma, Hussain, Sachez, E., Perez, F., Empaire, G.D., Vidal, H., Montes-Bravo, L., Guzman Siritt, M.E., Orozco, N., Navarrete, N., Ruiz, Y., De Anez, Z. Duran-Gil, Van Trang, Dang Thi, Minh, Dao Quang, Co, Dao Xuan, Anh, Dinh Pham Phuong, Thu, Le Thi Anh, Tuyet, Le Thi Diem, Nguyet, Le Thi Thu, Chau, Ngo uy, Binh, Nguyen Gia, Tien, Nguyen Phuc, Anh, Nguyen Quoc, Hang, Phan Thi, Hanh, Tran Thi My, Hang, Tran Thi Thuy, Thu, Truong Anh, Thoa, Vo Thi Hong, Rosenthal, Víctor Daniel, Al-Abdely, Hail M., El-Kholy, Amani Ali, AlKhawaja, Safa A Aziz, Leblebicioglu, Hakan, Mehta, Yatin, Rai, Vineya, Hung, Nguyen Viet, Kanj, Souha Sami, Salama, Mona Foda, Salgado-Yepez, Estuardo, Elahi, Naheed, Morfin Otero, Rayo, Apisarnthanarak, Anucha, De Carvalho, Braulio Matias, Ider, Bat Erdene, Fisher, Dale, Buenaflor, Maria Carmen S.G., Petrov, Michael M., Quesada-Mora, Ana Marcela, Zand, Farid, Gurskis, Vaidotas, Anguseva, Tanja, Ikram, Aamer, Aguilar de Moros, Daisy, Duszynska, Wieslawa, Mejia, Nepomuceno, Horhat, Florin George, Belskiy, Vladislav, Mioljevic, Vesna, Di Silvestre, Gabriela, Furova, Katarina, Ramos-Ortiz, Gloria Y., Gamar Elanbya, May Osman, Satari, Hindra Irawan, Gupta, Umesh, Dendane, Tarek, Raka, Lul, Guanche-Garcell, Humberto, Hu, Bijie, Padgett, Denis, Jayatilleke, Kushlani, Ben Jaballah, Najla, Apostolopoulou, Eleni, Prudencio Leon, Walter Enrique, Sepulveda-Chavez, Alejandra, Telechea, Hector Miguel, Trotter, Andrew, Alvarez-Moreno, Carlos, and Kushner-Davalos, Luis
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- 2016
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9. Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
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Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, el Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P., Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, and Lochmüller, Hanns
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- 2019
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10. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
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Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Manera, Jorge Alberto Diaz, Dogan, Celine, el Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P., Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, and Lochmüller, Hanns
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- 2018
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11. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
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Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, Ayşe A., Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, and Lochmüller, Hanns
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- 2015
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12. Molecular characteristics of extended-spectrum beta-lactamases among gram-negative isolates collected in Cairo University Hospital
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El sherif, Rasha Hamed and Maamoun, Hoda Abdel Hamid
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- 2013
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13. A form of muscular dystrophy associated with pathogenic variants in JAG2
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Coppens, Sandra, primary, Barnard, Alison M., additional, Puusepp, Sanna, additional, Pajusalu, Sander, additional, Õunap, Katrin, additional, Vargas-Franco, Dorianmarie, additional, Bruels, Christine C., additional, Donkervoort, Sandra, additional, Pais, Lynn, additional, Chao, Katherine R., additional, Goodrich, Julia K., additional, England, Eleina M., additional, Weisburd, Ben, additional, Ganesh, Vijay S., additional, Gudmundsson, Sanna, additional, O’Donnell-Luria, Anne, additional, Nigul, Mait, additional, Ilves, Pilvi, additional, Mohassel, Payam, additional, Siddique, Teepu, additional, Milone, Margherita, additional, Nicolau, Stefan, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Hanna, Michael G., additional, Quinlivan, Ros, additional, Toosi, Mehran Beiraghi, additional, Karimiani, Ehsan Ghayoor, additional, Costagliola, Sabine, additional, Deconinck, Nicolas, additional, Kadhim, Hazim, additional, Macke, Erica, additional, Lanpher, Brendan C., additional, Klee, Eric W., additional, Łusakowska, Anna, additional, Kostera-Pruszczyk, Anna, additional, Hahn, Andreas, additional, Schrank, Bertold, additional, Nishino, Ichizo, additional, Ogasawara, Masashi, additional, El Sherif, Rasha, additional, Stojkovic, Tanya, additional, Nelson, Isabelle, additional, Bonne, Gisèle, additional, Cohen, Enzo, additional, Boland-Augé, Anne, additional, Deleuze, Jean-François, additional, Meng, Yao, additional, Töpf, Ana, additional, Vilain, Catheline, additional, Pacak, Christina A., additional, Rivera-Zengotita, Marie L., additional, Bönnemann, Carsten G., additional, Straub, Volker, additional, Handford, Penny A., additional, Draper, Isabelle, additional, Walter, Glenn A., additional, and Kang, Peter B., additional
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- 2021
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14. High Rates of Intestinal Colonization With Extended-Spectrum Lactamase-Producing Enterobacteriaceae Among Healthy Individuals
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Abdul Rahman, Eiman Mohammed and El-Sherif, Rasha Hamed
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- 2011
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15. Carriage of Staphylococcus aureus in the nose of patients on regular dialysis treatment using hemodialysis catheters
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MAAMOUN, Hoda Abdel Hamid, SOLIMAN, Amin Roshdy, and El SHERIF, Rasha
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- 2011
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16. Nail dermoscopy is a helpful tool in the diagnosis of onychomycosis: A case control study
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El-Hoshy, Khaled H., Abdel Hay, Rania M., El-Sherif, Rasha H., Salah Eldin, Mona, and Moussa, Marwa F.
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- 2015
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17. Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B
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Okubo, Mariko, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Oya, Yasushi, Watanabe, Akihiro, Arahata, Hajime, El Sherif, Rasha, Noguchi, Satoru, and Nishino, Ichizo
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- 2018
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18. “Boule du biceps” in dysferlinopathy
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El Sherif, Rasha, primary, Hussein, Rasha S., additional, and Nishino, Ichizo, additional
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- 2019
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19. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
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Koeks, Zaïda, primary, Bladen, Catherine L., additional, Salgado, David, additional, van Zwet, Erik, additional, Pogoryelova, Oksana, additional, McMacken, Grace, additional, Monges, Soledad, additional, Foncuberta, Maria E., additional, Kekou, Kyriaki, additional, Kosma, Konstantina, additional, Dawkins, Hugh, additional, Lamont, Leanne, additional, Bellgard, Matthew I., additional, Roy, Anna J., additional, Chamova, Teodora, additional, Guergueltcheva, Velina, additional, Chan, Sophelia, additional, Korngut, Lawrence, additional, Campbell, Craig, additional, Dai, Yi, additional, Wang, Jen, additional, Barišić, Nina, additional, Brabec, Petr, additional, Lähdetie, Jaana, additional, Walter, Maggie C., additional, Schreiber-Katz, Olivia, additional, Karcagi, Veronika, additional, Garami, Marta, additional, Herczegfalvi, Agnes, additional, Viswanathan, Venkatarman, additional, Bayat, Farhad, additional, Buccella, Filippo, additional, Ferlini, Alessandra, additional, Kimura, En, additional, van den Bergen, Janneke C., additional, Rodrigues, Miriam, additional, Roxburgh, Richard, additional, Lusakowska, Anna, additional, Kostera-Pruszczyk, Anna, additional, Santos, Rosário, additional, Neagu, Elena, additional, Artemieva, Svetlana, additional, Rasic, Vedrana Milic, additional, Vojinovic, Dina, additional, Posada, Manuel, additional, Bloetzer, Clemens, additional, Klein, Andrea, additional, Díaz-Manera, Jordi, additional, Gallardo, Eduard, additional, Karaduman, A. Ayşe, additional, Oznur, Tunca, additional, Topaloğlu, Haluk, additional, El Sherif, Rasha, additional, Stringer, Angela, additional, Shatillo, Andriy V., additional, Martin, Ann S., additional, Peay, Holly L., additional, Kirschner, Jan, additional, Flanigan, Kevin M., additional, Straub, Volker, additional, Bushby, Kate, additional, Béroud, Christophe, additional, Verschuuren, Jan J., additional, and Lochmüller, Hanns, additional
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- 2017
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20. Polymyxins : Re-Considering the Disk Diffusion Susceptibility Testing Methodin MALDI-TOF Identified Gram Negative Bacilli
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El Sherif, Rasha H., primary, Dwedar, Reham A., additional, and Madkour, Lamiaa A., additional
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- 2015
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21. Polymerase Chain Reaction-guided Diagnosis of Infective Keratitis – A Hospital based Study
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Abu Eleinen, Khaled Gamal, primary, Mohalhal, Ahmad Abdalla, additional, Elmekawy, Hany Elmekawy, additional, Abdulbaki, Ahmad M., additional, Sherif, Ahmad Mohammad, additional, El-Sherif, Rasha H., additional, and Abdul Rahman, Eiman M., additional
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- 2012
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22. Molecular characteristics of extended-spectrum beta-lactamases among gram-negative isolates collected in Cairo University Hospital
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El sherif, Rasha Hamed, primary and Maamoun, Hoda Abdel Hamid, additional
- Published
- 2012
- Full Text
- View/download PDF
23. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
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Koeks, Zaïda, Bladen, Catherine L, Salgado, David, Van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, Van Den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Blötzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, and Lochmüller, Hanns
- Subjects
musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,610 Medicine & health ,360 Social problems & social services ,3. Good health - Abstract
BACKGROUND Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. METHODS In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. RESULTS Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p
24. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
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Guergueltcheva, Velina, Chamova, Teodora, Bellgard, Matthew I, Vojinovic, Dina, Straub, Volker, Bloetzer, Clemens, Rasic, Vedrana Milic, Kostera-Pruszczyk, Anna, Dai, Yi, Koeks, Zaïda, El Sherif, Rasha, Neagu, Elena, Dawkins, Hugh, Lamont, Leanne, Campbell, Craig, Walter, Maggie C, Zimowski, Janusz, Santos, Rosário, Korngut, Lawrence, Artemieva, Svetlana, Barišić, Nina, Karaduman, A Ayşe, Kirschner, Jan, Jeannet, Pierre-Yves, Karcagi, Veronika, Roy, Anna J, Peay, Holly L, Lahdetie, Jaana, Van Den Bergen, Janneke C, Díaz-Manera, Jordi, Bayat, Farhad, Kekou, Kyriaki, Chan, Sophelia, Kimura, En, Topaloğlu, Haluk, Joncourt, Franziska, Gallardo, Eduard, Salgado, David, Monges, Soledad, Kosma, Konstantina, Posada, Manuel, Rodrigues, Miriam, Stringer, Angela, Foncuberta, Maria E, Béroud, Christophe, Martin, Ann S, Bushby, Kate, Buccella, Filippo, Aartsma-Rus, Annemieke, Wang, Jen, Schreiber-Katz, Olivia, Roxburgh, Richard, Verschuuren, Jan, Lusakowska, Anna, Garami, Marta, Bladen, Catherine L, Flanigan, Kevin M, Brabec, Petr, Viswanathan, Venkatarman, Shatillo, Andriy V, and Lochmüller, Hanns
- Subjects
610 Medicine & health ,3. Good health - Abstract
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).
25. Polymerase chain reaction-guided diagnosis of infective keratitis - a hospital-based study.
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Eleinen KG, Mohalhal AA, Elmekawy HE, Abdulbaki AM, Sherif AM, El-Sherif RH, and Abdul Rahman EM
- Subjects
- Adolescent, Adult, Aged, Child, Child, Preschool, Diagnosis, Differential, Eye Infections, Fungal genetics, Female, Follow-Up Studies, Humans, Keratitis genetics, Keratitis microbiology, Male, Middle Aged, Reproducibility of Results, Retrospective Studies, Young Adult, Eye Infections, Fungal diagnosis, Fungi genetics, Keratitis diagnosis, Polymerase Chain Reaction methods, RNA, Fungal analysis
- Abstract
Purpose: To compare polymerase chain reaction (PCR) to microbial culture and smear for detection and identification of bacterial and fungal pathogens in suspected microbial keratitis., Materials and Methods: Corneal scrapings from 88 patients with suspected infectious keratitis were subjected to routine bacterial culture and sensitivity, Gram's stain, fungal culture; potassium hydroxide (KOH) wet mount, and PCR. PCR was performed with primer pairs targeted to the 16S and 18S r RNA gene. The result of the PCR was compared with conventional culture and Gram staining method., Results: By broad-range PCR, 40 (45.45%) cases were positive for fungi (90.9% sensitivity), 26 (29.5%) were culture positive (59.09% sensitivity), 29 (33%) of all patients were positive for bacteria by broad-range PCR (87.9% sensitivity) and 19 (21.6%) were culture positive (57.58% sensitivity). The time taken for PCR assay was 4-8 h whereas positive fungal cultures took 2-10 days and bacterial culture from 2 to 4 days. Smears were positive for fungi in 29 eyes (33% of cases, 65.91% sensitivity) and for bacteria in 11 eyes (12.5% of cases, 33.33% sensitivity)., Conclusions: DNA amplification with universal primers is a promising diagnostic tool in cases of infectious keratitis where routine laboratory culture failed to identify the pathogen. PCR may be performed in cases where the results of corneal scraping stains are negative without waiting for the results of the culture.
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- 2012
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