TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Authors: Corona-Rivera, Jorge Román, Martínez-Duncker, Iván, Morava, Eva, Ranatunga, Wasantha, Salinas-Marin, Roberta, González-Jaimes, Ana María, Castillo-Reyes, Katia Alejandra, Peña-Padilla, Christian, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Orozco-Vela, Mireya, Brukman-Jiménez, Sinhue Alejandro

Source: In Molecular Genetics and Metabolism May 2024 142(1)

MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype

Authors: Corona-Rivera, Jorge Román, Zenteno, Juan Carlos, Ordoñez-Labastida, Vianey, Cruz-Cruz, Jessica Paola, Cortés-Pastrana, Rocío Carolina, Peña-Padilla, Christian, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Martínez-Herrera, Alejandro

Source: In European Journal of Medical Genetics October 2023 66(10)

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome

Authors: Zepeda-Romero, Luz Consuelo, Zenker, Martin, Schanze, Denny, Schanze, Ina, Peña-Padilla, Christian, Quezada-Salazar, Claudia Angélica, Pacheco-Torres, Paulina Araceli, Rivera-Montellano, María Luisa, Aguirre-Guillén, Rafael Luis, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Corona-Rivera, Jorge Román

Source: In European Journal of Medical Genetics December 2022 65(12)

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

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Hisham, Intisar, Franco, Helena, Arbab, Hana, Samad, Lubna, Soomro, Aqil, Chaudhry, Muhammad Amjad, Karim, Safina, Khattak, Muhammad Adnan Khan, Nah, Shireen Anne, Dimatatac, Doris Mae, Choo, Candy SC, Maistry, Niveshni, Mitul, Ashrarur Rahman, Hasan, Samiul, Karim, Sabbir, Yousuf, Hina, Qureshi, Taimur, Nour, Ibrahim Rabi, Al-Taher, Raed Nael, Sarhan, Osama Abdul Kareem, Garcia-Aparicio, Luis, Prat, Jordi, Blazquez-Gomez, Eva, Tarrado, Xavier, Iriondo, Martí, Bragagnini, Paolo, Rite, Segundo, Hagander, Lars, Svensson, Emma, Owusu, Sheila, Abdul-Mumin, Alhassan, Bagbio, Dominic, Ismavel, Vijay Anand, Miriam, Ann, T, Shajin, Anaya Dominguez, Marlene, Ivanov, Monica, Serban, Andreea Madalina, Derbew, Miliard, Elfiky, Mahmoud, Olivos Perez, Maricarmen, Abrunhosa Matias, Marcia, Arnaud, Alexis P, Negida, Ahmed, King, Sebastian, Fazli, Mohamad Rafi, Hamidi, Nadia, Touabti, Souhem, Chipalavela, Rossana Francisco, Lobos, Pablo, Jones, Brendan, Ljuhar, Damir, Singer, Georg, Cordonnier, Annelien, Jáuregui, Lorena, Zvizdic, Zlatan, Wong, Janice, St-Louis, Etienne, Shu, Qiang, Lui, Yang, Correa, Catalina, Pos, Lucie, Alcántara, Elvyn, Féliz, Erick, Zea-Salazar, Luis Enrique, Ali, Liza, Peycelon, Matthieu, Anatole, Nzanzu Kipata, Jallow, Cherno S., Lindert, Judith, Ghosh, Dhruv, Adhiwidjaja, Cathline Freya, Tabari, Ahmad Khaleghnejad, Lotfollahzadeh, Saran, Mussein, Haidar Mohammad, Vatta, Fabrizio, Pasqua, Noemi, Kihiko, David, Gohil, Hetal, Nour, Ibrahim R., Elhadi, Muhammed, Almada, Suad Ahmed, Verkauskas, Gilvydas, Risteski, Toni, Peñarrieta Daher, Alejandro, Outani, Oumaima, Hamill, James, Lawal, Taiwo, Mulu, Jack, Yapo, Benjamin, Saldaña, Lily, Espineda, Beda, Toczewski, Krystian, Tuyishime, Eugene, Ndayishimiye, Isaac, Raboe, Enaam, Hammond, Philip, Walker, Gregor, Djordjevic, Ivona, Chitnis, Milind, Son, Joonhyuk, Lee, Sanghoon, Hussien, Muaad, Malik, Sawazen, Ismail, Enas Musa, Boonthai, Ampaipan, Dahman, Nesrine Ben Hadj, Hall, Nigel, Castedo Camacho, Fabiola Ruth, Sobrero, Helena, Butler, Marilyn, Makhmud, Aliev, Novotny, Nathan, Hammouri, Ahmad G., Al-Rayyes, Maisara, Bvulani, Bruce, Muraveji, Qais, Murzaie, Muhammad Yousuf, Sherzad, Ajmal, Haidari, Sayed Aman, Monawar, Abdul Baqi, Samadi, Dr. Ahmad Zia, Thiessen, Jesh, Venant, Ntakarutimana, Hospital, Sonia Inamuco, Jérémie, Niyonkuru, Mbonicura, Jean Claude, Vianney, Butoyi Jean Marie, Tadesse, Amezene, Negash, Samuel, Roberts, Charles A., Jabang, John N., Bah, Abdoulie, Camamra, Kajali, Correa, Armandou, Sowe, Babucarr, Gai, A., Jaiteh, Musa, Raymond, Kwizera Jean, Mvukiyehe, Jean Paul, Itangishaka, Innocent, Kayibanda, Emmanuel, Manirambona, Emery, Lule, Joseph, Costas-Chavarri, Ainhoa, Shyaka Gashugi, Ian, Ndata, Albert, Gasana, Georges, Nezerwa, Yves Castar, Simeon, Turatsinze, Muragijimana, Jean De Dieu, Rashid, Sakina, Msuya, David, Elisante, Joseph, Solanki, Meghna, Manjira, Emmanuel, Lodhia, Jay, Jusabani, Mubashir, Tarmohamed, Murad, Koipapi, Sengua, Souhem, Touabti, Sara, Nabti, Sihem, Brahimi, Dania, Bouguermouh, Toufik, Iaiche Achour, Mounira, Baghdadi Nour el islam, Habiba, Alouani, Aragão, Liliana, Gonçalves, Victor, Lino Urquizo, Marcelo Mauricio, Varela, Maria Florencia, Mercado, Pedro, Horacio, Bonavia, Damiani, Andrea, Mac, Carlos, Putruele, Daniel, Liljesthrom, Karen, Bernaus, Marianela, Jauri, Cesar, Cripovich, Alejandrina, Bianchin, Ezequiel, Puig, Maria Gabriela, Andreussi, Lorna, Iracelay, Susana, Marcos, Dolores, Herrera, Carina, Palacios, Nelly, Avile, Romina, Serezo, Belen, Montoya, Debora, Cepeda, Rodrigo, Vaquila, Justo, Veronica, Sofficci, Pardo, Liliana, Valeria, Pelussi, Julio, Lapalma, Martin, Aranda Diego, Lucio, Palazzi, Gabriel, Comba, Marianella, Depetrini, Calderón Arancibia, José Alfredo, Huespe, Enrique, Losa, Gabriela Natalia, Arancibia Gutiérrez, Elsa, Scherl, Humberto, Gonzalez, Daniel Emilio, Baistrocchi, Valentina, Silva, Yanina, Galdeano, Marcelo, Medard, Pablo, Sueiras, Ines, Romero Manteola, Enrique, Defago, Victor Hugo, Mieres, Carlos, Alberto, Carlos, Cornelli, Fabio, Molina, Marcelo, Ravetta, Pablo, Patiño Gonzalez, Celeste Carolina, Dallegre, Maria Belen, Szklarz, Maria Tatiana, Leyba, Marcos Federico, Rivarola, Nahuel Ignacio, Charras, Maria Delia, Morales, Adriana, Caseb, Paloma, Toselli, Luzia, Millán, Carolina, Junes, Maria del Carmen, Di Siervi, Oscar, Gilardi, Jose, Simon, Soledad, Contreras, Carla Sofia, Rojas, Nair, Arnoletto, Lucia Beatriz, Blain, Otilia Eva, Bravo, Mauro Nicolas, Sanchez, Nancy, Herrera Pesara, Luciana Martina, Moreno, Maria Eugenia, Sferco, Carlos Ariel, Huq, Umama, Ferdousi, Tamanna, Al-Mamun, Abdullah, Sultana, Sadia, Mahmud, Refoyez, Mahmud, Khalid, Sayeed, Fatema, Svirsky, Alexander, Sempertegui, Denisse, Negrete, Amalia, Teran, Araceli, Sadagurschi, Mariana, Popovic, Nusret, Karavdic, Kenan, Milisic, Emir, Jonuzi, Asmir, Mesic, Amira, Terzic, Sabina, Dendusic, Nejra, Biber, Elna, Sehic, Anesa, Zvizdic, Nada, Letic, Emina, Saracevic, Adna, Hamidovic, Ajla, Selak, Nejra, Horozic, Dzan, Hukic, Lamija, Muhic, Amila, Vanis, Nedim, Sokolovic, Emir, Sabic, Adnan, Becker, Karin, Novochadlo Klüppel, Elis, dos Santos Dias, André Iván Bradley, Agulham, Miguel Angelo, Bischoff, Cristiano, Sabbatini, Stella, Fernandes de Souza, Rachel, Souza Machado, Ana Beatriz, Werneck Raposo, Juliana, da Silva Augusto, Maria Lucia, Martins, Bianca M.R., de Souza Santos Ferreira, Mariana, Fernandes de Oliveira, Darli, Silva dos Santos, Carla, Ribeiro de Fernández y Alcázar, Fernanda, Alves Dutra da Silva, Érika, Furtado, Mariana, Tamada, Horácio, Silva Ferreira dos Santos, Marília, Lopes de Almeida, Thayná, Oliveira de Andrade, Susy, Gurgel do Amaral, Antonio Cipriano, Jr, Sartori Giovanoni, Lais, de Deus Passos Leles, Kamila, Corrêa Costa, Eduardo, Feldens, Leticia, Ferraz Schopf, Luciano, Soares de Fraga, José Carlos, Colombo de Holanda, Felipe, Brolin Santis Isolan, Paola Maria, Loyola Ferreira, Julia, Bruxel, Carla Luisa, Lopes Teixeira Ferdinando, Danielle, Zottis Barcelos, Fabricio, Baseggio, Natalia, Knorr Brenner, Nicole, Trindade Deyl, Rafael, Dure, Carolina, Nunes Kist, Iuri, Bueno Mazzuca, Rafael, Bueno Motter, Sarah, Ramos, Yna, Suzana Trein, Cristine, Rezende Rosa, Bianca, de Assis Silva, Murilo, Menin, Flavio Augusto, Semensato Carloni, Isabela Cristina, Norberto da Silva, Juliana Antinarelli, Gomes, Adriano Luis, Girão Tauffer, Mariana, Bassan Gonçalves, Paulo César, Nogueira Marques, Geraldo Magela, Moriya, Eliane, Labonia, Carla, Carrasco, Ana Lucia, Furtado Meyer, Karine, Farion-Aguiar, Luiz, Amado, Fernando, Antunes, Amanda, Silva, Elisângela, Telles, Leila, Almeida, Giovana, Belmino Gadelha, Aluísio Augusto, de Azevedo Belesa, Flavia, Gonçalves da Cunha, Jr, Acimar, Souza Barros, Beatriz, Zanellato, Josiane Bernartt, Guimarães, Patricia, Silva, Karina Ilheu da, Ribas, Bianca, Reuter, Cristina, Casado, Francis Tanise, Correa Leite, Mila Torii, Testoni, Daniela, Guinsburg, Ruth, de Campos Vieira Abib, Simone, Khodor Cury, Edson, Dornellas do Nascimento, Suely, Almeida Aguiar, Arthur, Melo Gallindo, Rodrigo, Gonçalves Borges, Carolina, Liu, Yang, Duote, Cai, Wang, Jinhu, Gao, Zhigang, Liang, Liang, Luo, Wenjuan, Zhao, Xiaoxia, Chen, Rui, Wang, Peng, Han, Yijiang, Huang, Ting, Donglai, Hu, Xiaodong, Guo, Junjie, Chen, Zhu, Libin, Wu, Guowei, Bao, Xiaozhou, Li, Haijing, Lv, Junying, Li, Zhongrong, Yong, Feng, Gao, Zhou Chong, Bai, Qiang, Tang, Weibing, Xie, Hua, Motee, Jethishka, Zhu, Jianming, Wen, Gang, Ruan, Weiwei, Li, Shungen, Chen, Lulu, Huang, Shungen, Lv, Zhibao, Lu, Jinjing, Huang, Liuming, Yu, Mengnan, Dajia, Wang, Bai, Yu Zuo, Rincon, Luis Carlos, Mancera, Juliana, Alzate Gallego, Edgar, Torres-Canchala, Laura, Silva Beltrán, Nathalia, Osorio Fory, Ghordana, Castaño Avila, Daniela, Forero Ladino, Angelica Maria, Gomez, Juanita, Jaramillo, Martha, Morales, Otto, Sanchez, Beatriz, Tinoco Guzmán, Nestor Julien, Castañeda Espinosa, Sergio, Prieto Vargas, Osbaldo, Pardo, Lina Maria, Toral, Eliana, 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Elsherbiny, Mohamed, Saleh, Amr, Sheir, Hesham, Wafa, Tamer, Elmenam, Mohamed Abd, Abdelmaksoud, Sherif, Reda, Ahmed, Mansour, Islam, Elzohiri, Mohamed, Waseem, Basma, Elewaily, Mohamed, El-Ghazaly, Mohammed, Elhattab, Ahmad, Shalaby, Amr, Elsaied, Adham, Adawy, Ahmad, Sadek, Mirna, Ahmed, Mahmoud Abdelfattah, Herdan, Mohamed Omar, Elassall, Gena Mohamed Hamed, Mohammed, Azhar Arabi, Takrouney, Mohammed Hamada, Essa, Tarek Mohamed, Mahmoud, Ahmed Mokhtar, Saad, Alshaimaa M., Fouly, Mariam Albatoul Nageh, Ibrahim, Mahmoud abdelshakour, Nageh, Mohammad, Saad, Mahmoud M., Badr, Helmy, Fouda, Mohamed Fayez, Nofal, Ahmed Hassan, Almohamady, Hisham, Arafa, Mohamed Ahmed, Amad, Mohamed, Mansour, Mohamed Awad, O'Connor, Jennifer, O'Connor, Zachary, Anatole, Nzanzu, Nkunzimana, Elysé, Machemedze, Solomon, Dieudonné, Lemfuka, Appeadu-Mensah, William, Anyomih, Theophilus Teddy Kojo, Alhassan, Priscilla, Abantanga, Francis A., Michael, Vishal, Mary Koshy, Roshine, Raj, Ankit, Kumar, Vijay, PT, Sundeep, Prabhu, P Santosh, Vosoughi, Armin, Al-Mayoof, Ali Farooq, Fadhle, Muhamed Jassim, Joda, Ali Egab, Algabri, Hayder Nadhim Obaid, Abdelhamid, Sultan S., Al-Momani, Hashem M., Amarin, Marzouq, Zaghlol, Louay Y., Alsaadi, Nijmeh Nasser, Qwaider, Yasmeen Z., Qutishat, Hibah, Aliwisat, Ahmad Hasan, Arabiat, Esraa, Bsisu, Isam, Murshidi, Raghad M., Jabaiti, Mohammad S., Bataineh, Ziad A., Abuhayyeh, Husam Aldean, Quran, Thekraiat M. 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Saied, Tarek, Ahmed, Ahmed, Hazem, Essamilghi, Kamila Almabrouk Mohammed, Alfoghi, Mabroka, Abuhlega, Ma'aly A., Arrmali, Saddam, Abduljawad, Fatima Mousa, Alosta, Hasan Mustafa, Abuajaila, Abdulsalam, Abdelmutalib, Fakereldeen, Bashir, Fatma, Almengar, Inas, Annajjar, Mohammad hasan, Deyab, Abdelaziz, Elzowawi, Fathi, Krayem, Yousef, Drah, Weam, Meftah, Asma, Mohammed, Abobaker, Arrmalli, Lina Ali, Aljaboo, Hajir, Elayeb, Abdallah, Altomi, Mohamed, Altaweel, Ahmed, Tumi, Mohamed, Bazozi, Hana Milad, Shaklawoon, Aisha, Alglaib, Mohammed Meftah, Elkaloush, Abdullahn Abdousalam, Trainba, Sara, Swessi, Hisham, Alnaeri, Ali, Shnishah, Aya Essam, Mustufa, Hamassat, Gargum, Sondas Ali, Tarniba, Sara Ali, Shalluf, Hawa Ahmed, Shokri, Hajer Ali, Sarkaz, Taher L., Tababa, Osama, Elhadi, Ahmed, Naunova, Vesna Cvetanovska, Jovcheski, Laze, Kamilovski, Marjan, Gavrilovska-Brzanov, Aleksandra, Latiff, Zarina Abdul, Pauzi, Siti Farhan Moh, Osman, Marjmin, Lim, Felicia, Bakar, Ainal Huda Abu, Zaman, Azrina SK, Ishak, Shareena, Teo, Rufinah, Qi, Dr. Tammy Teoh Han, Othman, Mohd Yusran Bin, Zahari, Dato' Dr Zakaria bin, Hassan, Zulfitri bin Md, Shan, Cheah Hui, Lechmiannandan, Abhirrami, Tamaddun, Hafatin Fairos bt, Adanan, Mohd Fitri Shukri bin Mohamed, Abdullah, Mohd Yusof bin, Junyi, Wang, Nor, Mohd. Tarmizi Mohd, Noor, Wan Ruzaimie, Hassan, Mohd Razin bin, Dalek, Noor Fa'izatul Rahil Ambok, Hashim, Hidayah Hayati binti, Zarwawi, Ahmad Zulhisyam bin, Vellusamy, V Muthualhagi M, Yuen, Quah Soong, Kannessan, Hemasutha a/p, Ramli, Najua binti, Bujarimin, Ahmad Shafiee bin, Anntinea, Jessmine, Dass, Anthony, Khalid, Hazlina Mohd., Hanifah, Nur Atiqah binti Mohd, Jyun, Keily Wong Yue, Razak, Rahilah binti Abd, Naim, Nur Atifah binti Mohd, Hamzah, Siti Nur Aien binti Hamid, Vidal, Cristian R. 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Shaheen, Shehada, Mohammed, Balousha, Abrar ghassan, Ajrami, Yara, Alzamari, Ainaa Ata Mohammad, Yaghi, Bashar, Al-saleem, Hasan Subhi Hasan Abu, Farha, Mervat Sufian Abu, Abdelhafez, Mohammad Omar Mohammad, Anaya, Firas, Qadomi, Asef belal, Odi, Abd Al-Naser Bany, Assi, Muath Abdelrahem Fuad, Sharabati, Fadwa, Abueideh, Ahmad, Beshtawi, Doha mustafa saleh, Arafat, Hasan, Khatatba, Lara Zahi Adel, Abatli, Safa' Jamal, Al-Tammam, Hiba, Jaber, Dania, Kayed, Yara Imad Omar, Abumunshar, Ali Abdelhay, Misk, Rami Anwar, Alzeer, Asmahan Mohammad Suliman, Sharabati, Mutassem, Ghazzawi, Ihsan, Darras, Osama Majed, M.Qabaja, Mahmoud, Hajajreh, Ma'alem sameer, Samarah, Yasmeen Ahmad, Yaghi, Dua Hasan, Qunaibi, Moradallah Asad Fahmi, Mayaleh, Abdelrazzaq Abu, Joubeh, Sharehan, Ebeido, Annan, Adawi, Samer, Adawi, Ihda, Alqor, Mohammad Omar Ibrahim, Arar, Ahmad Samih, Awad, Hadeel, Abu-Nejmah, Fawzi, Shabana, Osaid Shaher, Alqarajeh, Firas, Alzughayyar, Tareq Z., Madieh, Jomana, Sbaih, Mahmoud Fuad, Alkareem, Raghad mohammad abdu, Lahlooh, Raghad abdullateef, Halabi, Yasmeen Adly, Baker, Wisam, Almusleh, Tasneem Fathi Hasan, Tahyneh, Abdulraheem Adnan Abdulraheem, Atatri, Yazid yousef mahmoud, Jamie, Najlaa Abu, Massry, Nasrallah Ashraf Al, Lubbad, Walaa, A.Nemer, Ayoub, Alser, Mohammed, Salha, Aya Azmi Shehda, Alnahhal, Khaled, Elmzyyen, Aya Mahmoud, Ghabayen, Amir Talat Sheda, Alamrain, Abdulwhhab Ayman Abu, Al-Shwaikh, Samar H., Elshaer, Omar Adly, Shaheen, Nureddin, Fares, Jehad, Dalloul, Hisham, Qawwash, Anas, Jayyab, Mustafa abu, Ashour, Dina Ayman, Shaheen, Ahmad Ashraf, Naim, Samy Rafat Ramadan, Shiha, Eman Abu, Dammagh, Nagham Mohammed Al, Almadhoun, Walaa, Al-Salhi, Ashraf Ayman, Hammato, Abdalkarim Yhya, Salim, Jamal Mohammed, Hasanain, Doaa Khalil, Alwadia, Soha Marwan Salem, Nassar, Ismail, Al-Attar, Hala M., Alshaikhkhalil, Haya Abdulnasser Ali, Jamie, Yasmin Mohammed Khalil Abu, Ashour, Yara shareef, Alijla, Sharif S., Tallaa, Mohamed Anwer El, Abuattaya, Adham Ashraf, Wishah, Bisan D.M., ALDIRAWI, MOHAMMED A.M., Darwish, Ahmed S, Alzerei, Sulaiman T., Wishah, Nidal, Alijla, Sharif, Garcia, Isidora, Diaz Echegaray, Marlene, Cañapataña Sahuanay, Veronica Raquel, Trigoso Mori, Fernando, Alvarado Zelada, Jackelyne, Salinas Barreto, Juan Jose, Rivera Altamirano, Porfirio, Torres Miranda, Cesar, Anicama Elias, Rocio, Rivera Alvarez, Julio, Vasquez Matos, Juan Pedro, Ayque Rosas, Fernando, Ledesma Peraza, Jesmarina, Gutarra Palomino, Andrea, Vega Centen, Stephany, Casquero, Victor, Ortiz Argomedo, María Rosa, Lapouble, Francisco, Llap Unchón, Genaro, Delgado Malaga, Florangel Patricia, Ortega Sotelo, Luis, Gamboa Kcomt, Segundo, Villalba Villalba, Araceli, Mendoza Leon, Nancy Rossana, Cardenas Alva, Loreley Raquel, Loo Neyra, Maria Susana, Alanguia Chipana, Cathy Lee, Torres Picón, Cintya Maria de Jesus, Huaytalla Quiroz, Natalia, Dominguez, Danny, Segura Calle, Carlos, Arauco, Jenny, Ormeño Calderón, Luis, Ghilardi Silva, Ximena, Fernandez Wilson, Miriam Daniela, Gutierrez Maldonado, Joan Elizabeth, Diaz Leon, Cesar, Berrocal Anaya, Waldo, Chavez Galvez, Patricia, Aguilar Gargurevich, Prince Pamela, Diaz Castañeda, Flor de Maria, Guisse, Carmen, Ramos Paredes, Erika, Apaza Leon, Jose Luis, Aguilar Aguilar, Faye, Ramirez De La Cruz, Raul, Flores Carbajal, Lenny, Mendoza Chiroque, Carlos, Sulca Cruzado, Gladys Johana, Tovar Gutierrez, Natalia, Sotelo Sanchez, Jennifer, Paz Soldan, Carolina, Hernández Córdova, Karina, Delgado Quinteros, Edgar Fernando, Brito Quevedo, Luz Mery, Mendoza Oviedo, Juan Jose, Samanez Obeso, Angel, Paredes Espinoza, Patricia, de Guzman, Johann, Yu, Raisa, Cosoreanu, Vlad, Ionescu, Sebastian, Mironescu, Aurel, Vida, Lucian, Papa, Adrian, Verdeata, Roxana, Gavrila, Bogdan, Muntean, Liviu, Lukac, Marija, Stojanovic, Miona, Toplicic, Djordje, Slavkovic, Milan, Slavkovi, Andjelka, Zivanovic, Dragoljub, Kostic, Ana, Raicevic, Maja, Nkuliza, Delphine, Sidler, Daniel, Vos, Corné de, Merwe, Elmarie vd, Tasker, David, Khamag, Omar, Rengura, Cecilia, Siyotula, Thozama, Jooma, Uzair, Delft, Dirk von, Arnold, Marion, Mangray, Hansraj, Harilal, Shamaman, Madziba, Sanele, Wijekoon, Naveen, Gamage, Tharanga, Bright, Benedict Paul, Abdulrahman, Alaa, Mohammed, Ola Ahmed Abdulmjeed, Salah, Mohammed, Ajwa, Ahmad Elian Abu, Morjan, Mohammed, Batal, Mohammad Mohannad, Faks, Vivian, Mouti, Mohamad Bassel, Assi, Ahmadfateh, Al-Mouakeh, Ahmad, Tarabishi, Ahmad Sankari, Aljarad, Ziad, Alhamid, Aos, Khorana, Jiraporn, Poocharoen, Wannisa, Liukitithara, Sirima, Sriniworn, Anan, Nuntasunti, Wasun, Ngerncham, Monawat, Phannua, Ratiyaporn, Thaiwatcharamas, Kanokrat, Tanming, Patchareeporn, Sahnoun, Lassaad, Kchiche, Nahla, Abdelmoumen, Roua, Eroğlu, Egemen, Ozen, Mehmet Ali, Cömert, Hatice Sonay Yalçın, İmamoğlu, Mustafa, Sarıhan, Haluk, Kader, Şebnem, Mutlu, Mehmet, Aslan, Yakup, Beşir, Ahmet, Geze, Şükran, Çekiç, Bahanur, Yalcinkaya, Ali, Sönmez, Kaan, Karabulut, Ramazan, Türkyılmaz, Zafer, Şeref, Kıvanç, Altın, Merve, Aykut, Merve, Akan, M.Eren, Erdem, Melisa, Ergenekon, Ebru, Türkyılmaz, Canan, Keleş, Elif, Canözer, Ali, Yeniay, Aslı Öztürk, Eren, Elif, Cesur, İlknur Banlı, Özçelik, Zerrin, Kurt, Gökmen, Mert, Mustafa Kurthan, Kaya, Hatice, Çelik, Müge, Karakus, Suleyman Cuneyt, Erturk, Nazile, Suzen, Alev, Hakan, Nilay, Akova, Fatih, Pasaoglu, Mehmet, Eshkabilov, Shukurali, Yuldashev, Rustam Z., Abdunomonovich, Dekhkonboev Avazjon, Muslimovich, Aliev Makhmudjan, Patel, Azad, Kapihya, Chisengo, Ensar, Nicholas, Nataraja, Ramesh M, Sivasubramaniam, Mithila, Jones, Matthew, Teague, Warwick, Tanny, Sharman Tan, Thomas, Gordon, Roberts, Kiera, Venkatraman, Soundappan Sannappa, Till, Holger, Pigeolet, Manon, Dassonville, Martine, Shikha, Anas, Win, Win Sabai Phyu, Ahmad, Zahidah Adlynee Haji, Meloche-Dumas, Léamarie, Caouette-Laberge, Louise, St-Vil, Dickens, Aspirot, Ann, Piché, Nelson, Joharifard, Shahrzad, Safa, Nadia, Laberge, Jean-Martin, Emil, Sherif, Puligandla, Pramod, Shaw, Kenneth, Wissanji, Hussein, Duggan, Eileen, Guadagno, Elena, Puentes, Maria Consuelo, Leal, Paola Osses, Mendez Benavente, Carolina, Rygl, Michal, Trojanová, Barbora, Berková, Klára, Racková, Tereza, Planka, Ladislav, Škvařil, Jan, Štichhauer, Radek, Sabti, Shahad, Macdonald, Alex, Bouhadiba, Nordeen, Kufeji, Dorothy, Pardy, Caroline, Mccluney, Simon, Keshtgar, Alireza, Roberts, Rebecca, Rhodes, Hannah, Burns, Kate, Garrett-Cox, Robin, Ford, Kat, Cornwall, Hannah, Ravi, Krithi, Arthur, Felicity, Losty, Paul, Lander, Tony, Jester, Ingo, Arul, Suren, Gee, Oliver, Soccorso, Giampiero, Singh, Michael, Pachl, Max, Martin, Benjamin, Alzubair, Afnan, Kelay, Arun, Sutcliffe, Jonathan, Middleton, Thomas, Thomas, Amy Hughes, Kurian, Merina, Cameron, Fraser, Sivaraj, Jayaram, Thomas, Mark C, Rex, Dean, Jones, Ceri, Bradshaw, Kate, Bonnard, Arnaud, Delforge, Xavier, Duchesne, Camille, Gall, Caroline Le, Defert, Coralie, Laraqui Hossini, Samia, Guerin, Florent, Hery, Géraldine, Fouquet-Languillat, Virginie, Kohaut, Jules, Broch, Aline, Blanc, Thomas, Harper, Luke, Delefortrie, Thomas, Ballouhey, Quentin, Fourcade, Laurent, Grosos, Céline, Parmentier, Benoit, Levard, Guillaume, Grella, Maria Giovanna, Renaux Petel, Mariette, Grynberg, Lucie, Abbo, Olivier, Mouttalib, Sofia, Juricic, Mélodie, Scalabre, Aurelien, Haraux, Elodie, Rissmann, Anke, Krause, Hardy, Goebel, Peter, Patzer, Ludwig, Rolle, Udo, Schmedding, Andrea, Antunez-Mora, Alexandra, Tillig, Bernd, Bismarck, Sylvester von, Barbosa, Patricia Reis, Knorr, Christian, Stark, Domitille, Brunero, Marco, Avolio, Luigi, Manni, Francesco, Molinelli, Matilde, Guazzotti, Marinella, Raffaele, Alessandro, Romano, Piero Giovanni, Cavaiuolo, Silvia, Parigi, Gian Battista, Juhasz, Laszlo, Rieth, Anna, Strumila, Arunas, Dagilytė, Rūta, Liubsys, Arunas, Gurskas, Pranas, Malcius, Dalius, Mikneviciute, Agne, Vinskaite, Asta, Barauskas, Vidmantas, Vierboom, Liam, Hall, Timothy, Beasley, Spencer, Goddard, Lucy, Stringer, Mark, Weeratunga, Naveen, Adams, Stephen, Cama, Jitoko, Wong, Marilyn, Jayaratnam, Sridharan, Kukkady, Askar, Samarakkody, Udaya, Gerus, Sylwester, Patkowski, Dariusz, Wolny, Agnieszka, Koszutski, Tomasz, Tobor, Szymon, Osowicka, Marta, Czauderna, Piotr, Wyrzykowski, Dariusz, Garnier, Hanna, Anzelewicz, Stefan, Marta, Osowicka, Knurowska, Agata, Weiszewsk, Alicja, Grabowski, Andrzej, Korlacki, Wojciech, Pasierbek, Michal, Wolak, Przemyslaw, Piotrowska, Aneta, Roszkiewicz, Anna, Kalicińsk, Piotr, Trypens, Agata, Kowalewsk, Grzegorz, Sigalet, David, Alsaied, Amer, Ali, Mansour, Alsaggaf, Ameen, Ghallab, Alaa, Owiwi, Yazeed, Zeinelabdeen, Ali, Fayez, Mohamed, Atta, Ahmed, Zidan, Mazen, Radwan, Asaad saleh, Shalaby, Hanin, Abdelbaqi, Reem, Alattas, Khalid, Kano, Yar, Sindi, Omar, Alshehri, Abdullah, Altokhais, Tariq, Alturki, Fahad, Almosaibli, Mohammad, Krisanova, Dasha, Abbas, Wisam, Yang, Hee-Beom, Kim, Hyun-Young, Youn, Joong Kee, Chung, Jae Hee, Cho, Seok Hyeon, Hwang, In ji, Lee, Ju yeon, Song, Eung song, Arboleda, Jenny, Ruiz de Temiño Bravo, Mercedes, Siles Hinojosa, Alexander, García, Miriam, Casal Beloy, Isabel, Oliu San Miguel, Detlef, Molina Vazquez, Maria Elena, Alonso, Verónica, Sanchez, Alberto, Gomez, Oscar, Carrillo, Isabel, Wester, Tomas, Mesas Burgos, Carmen, Salö, Martin, Omling, Erik, Rudolfson, Niclas, Granéli, Christina, Arnadóttir, Helena, Grottling, Emma, Abrahamsson, Kate, Gatzinsky, Vladimir, Dellenmark Blom, Michaela, Borbonet, Daniel, Puglia, Paul, Jimenez Morejon, Vinicio, Acuna, Gaston, Moraes, Mario, Chan, Jonathan, Brahmamdam, Pavan, Tom, Alan, Sherer, Karen, Gonzales, Brandy, Cunningham, Aaron, Krishnaswami, Sanjay, Baertschiger, Reto, Leech, Mary, Williams, Regan, Camp, Lauren, Gosain, Ankush, Mora, Maria, Lyttle, Bailey D., Chang, Jeremy, McColl Makepeace, Lydia, Fowler, Kathryn L, Mansfield, Sara, Hodgman, Erica, Amaechi, Chukwubinyelum, Beres, Alana, Pernik, Mark N., Dosselman, Luke J., Almasri, Murad, Jain, Sunil, Modi, Varun, Fernandez Ferrer, Marianelly, Coon, John, Gonzalez, Joann, Honhar, Medhavi, Ruzgar, Nensi, Coghill, Griffin, Ullrich, Sarah, Cheung, Maija, Løfberg, Katrine, Greenberg, Jodie, Davenport, Kate, Gadepalli, Samir, Fox, Sarah, Johnson, Stephanie, Pilkington, Mercedes, Hamilton, April, Lin, Nicole, Sola, Juan, Yao, Yang, Davis, Jenna Kylene, Langer, Monica, Vacek, Jonathan, Abdullah, Fizan, Khlevner, Julie, Middlesworth, William, Levitt, Marc, Ahmad, Hira, Siddiqui, Sabina M, Bowder, Alex, Derks, Terry, Amoabin, Afua Amoabin, Pinar, Brooke, Owusu-Sekyere, Frank, Saousen, Benmanseur, Naidoo, Rasika, Karamustafic, Azra, Oliveira, Danielle Paula de, Motter, Sarah Bueno, Andrade, Jerhy, Šafus, Antonín, Langley, Jason, Wilke, Alexandra, Deya, Corazone, Murtadi, Habib Mansour, Berzanskis, Mindaugas, Calistus, Nwachukwu, Ajiboye, Olalekan S., Felix, Michael, Olabisi, Osagie O, Erçin, Seçil, Muradi, Teymursha, Burks, Stephen S., Lerma, Sergio, Jacobson, Jillian, Calancea, Calin, Valerio-Vazquez, Rafael, Sikwete, Guigui, Sekyere, Owusu, Mbonisweni, Akhona, Syed, Shahnoor, Hyeon, Cho Seok, Pajouhandeh, Fatemeh, Kunfah, Sheba Mary Pognaa

Source: In The Lancet 24-30 July 2021 398(10297):325-339

Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.

Authors: Cristina Barrón-Márquez, Mariana, González-González, Rogelio, Bobadilla-Morales, Lucina, Ulises Rodriguez-Machuca, Victor, Bologna-Molina, Ronell, Molina-Frechero, Nelly, Alejandro Tremillo-Maldonado, Omar, López-Verdín, Sandra

Source: American Journal of Case Reports; 1/12/2025, Vol. 26, p1-7, 7p

Subject Terms: MEDICAL personnel, EPIBLAST, SYMPTOMS, GENETIC disorders, UTERINE fibroids

Long-term epidemiological trends in (primary) pediatric central nervous system tumors: a 25-year cohort analysis in Western Mexico.

Authors: Rodríguez-Machuca, Víctor Ulises, Ángulo-De La Cruz, Eduardo Jahir, Gaxiola-Sarmiento, Ana Lucía, Ramírez-Corona, Juan Antonio, Fernández-Sánchez, David, Arredondo-Navarro, Luis Angel, Velázquez-Santana, Héctor, Nuñez-Velasco, Santiago, Navarro-Martín Del Campo, Regina Mallinalli, Bustos-Rodríguez, Felipe De Jesús, Corona-Rivera, Jorge Román, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo

Source: Child's Nervous System; 2025, Vol. 41 Issue 1, p1-16, 16p

De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review.

Authors: Pérez-Becerra, José de Jesús, Rodríguez-Machuca, Víctor Ulises, González-Rodríguez, María Teresa Alejandra, Brukman-Jiménez, Sinhue Alejandro, Corona-Rivera, Alfredo, Ramirez-Corona, Juan Antonio, Cuero-Quezada, Idalid, Corona-Rivera, Jorge Román, Ramírez-Urenda, Xóchitl Aurora, González-Pérez, Graciela, Bustos-Rodríguez, Felipe de Jesús, Bobadilla-Morales, Lucina

Source: International Journal of Molecular Sciences; Nov2024, Vol. 25 Issue 22, p12338, 10p

Subject Terms: GENETIC disorder diagnosis, RETINOBLASTOMA, GERM cells, WOMEN patients, GENETIC variation, HETEROZYGOSITY

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation

Authors: Rios-Flores, Izabel Maryalexandra, Bonal-Pérez, Miguel Ángel, Castellanos-González, Abril, Velez-Gómez, Ezequiel, Bertoli-Avella, Aida M., Bobadilla-Morales, Lucina, Peña-Padilla, Christian, Appendini-Andrade, Valentina, Corona-Rivera, Alfredo, Romero-Valenzuela, Ivón, Corona-Rivera, Jorge Román

Source: In European Journal of Medical Genetics August 2020 63(8)

MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.

Authors: Romero-Bolaño, Yaneris Maibeth¹ (AUTHOR), Bobadilla-Morales, Lucina^1,2 (AUTHOR) lucinabo@gmail.com, Corona-Rivera, Alfredo^1,2 (AUTHOR), Cuero-Quezada, Idalid² (AUTHOR), Santana-Hernández, Jennifer² (AUTHOR), Peña-Padilla, Christian¹ (AUTHOR), Brukman-Jiménez, Alejandro¹ (AUTHOR), Orozco-Vela, Mireya¹ (AUTHOR), Navia-Espinoza, Natalia¹ (AUTHOR), Corona-Rivera, Jorge Román^1,2 (AUTHOR) rocorona@cucs.udg.mx

Source: Genetic Testing & Molecular Biomarkers. Jun2024, Vol. 28 Issue 6, p263-266. 4p.

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1

Authors: Corona-Rivera, J. Román, Barrios-Prieto, Ernesto, Nieto-García, Rafael, Bloise, Raffaella, Priori, Silvia, Napolitano, Carlo, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Zapata-Aldana, Eugenio, Peña-Padilla, Christian, Rivera-Vargas, Jehú, Chavana-Naranjo, Eva

Source: In European Journal of Medical Genetics June-July 2015 58(6-7):332-335

Síndromes Prader-Willi y Angelman: serie de casos diagnosticados mediante la técnica de MS-MLPA.

Alternate Title: Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay.

Authors: Maryalexandra Rios-Flores, Izabel¹, Bobadilla-Morales, Lucina², Peña-Padilla, Christian¹, Corona-Rivera, Alfredo², Acosta-Fernández, Elizabeth¹, Santana-Hernández, Jennifer², Alejandro Brukman-Jiménez, Sinhue², Román Corona-Rivera, Jorge³ rocorona@cucs.udg.mx

Source: Revista Medica del IMSS. mar/abr2021, Vol. 59 Issue 2, p170-178. 9p.

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.

Authors: Corona-Rivera, Jorge Román, Rios-Flores, Izabel Maryalexandra, Zenteno, Juan Carlos, Peña-Padilla, Christian, Castillo-Reyes, Katia, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Acosta-Fernández, Elizabeth, Bruckman-Jiménez, Alejandro

Source: Molecular Syndromology; 2024, Vol. 15 Issue 1, p51-57, 7p

An Innovative AI-based primer design tool for precise and accurate detection of SARS-CoV-2 variants of concern.

Authors: Perez-Romero, Carmina Angelica, Mendoza-Maldonado, Lucero, Tonda, Alberto, Coz, Etienne, Tabeling, Patrick, Vanhomwegen, Jessica, MacSharry, John, Szafran, Joanna, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Claassen, Eric, Garssen, Johan, Kraneveld, Aletta D., Lopez-Rincon, Alejandro

Source: Scientific Reports; 11/18/2023, Vol. 13 Issue 1, p1-12, 12p

Subject Terms: SARS-CoV-2, ARTIFICIAL intelligence, COVID-19 pandemic, SARS-CoV-2 Omicron variant, EVOLUTIONARY algorithms, PANDEMICS

Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.

Authors: Corona‐Rivera, Jorge Román, Barrios‐Prieto, Ernestro, Rivera‐Ramírez, Berenice, Sánchez‐Uribe, Enndy Hollyver, Cortés‐Pastrana, Rocío Carolina, Aguilera, Cristhian Ernesto Ramírez, de Anda‐Camacho, Roberto Gerardo, Peña‐Padilla, Christian, Bobadilla‐Morales, Lucina, Corona‐Rivera, Alfredo

Source: American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2422-2427, 6p

In vitro effect of curcumin in combination with chemotherapy drugs in Ph⁺ acute lymphoblastic leukemia cells.

Authors: Santana-Bejarano, Uriel Francisco^1,2 (AUTHOR), Bobadilla-Morales, Lucina^1,2,3 (AUTHOR), Mendoza-Maldonado, Lucero^1,2 (AUTHOR), Torres-Anguiano, Elizabeth^1,2 (AUTHOR), Brukman-Jiménez, Sinhue Alejandro^1,2 (AUTHOR), Barba-Barba, Cesar Cenobio³ (AUTHOR), Corona-Rivera, Jorge Román^1,2 (AUTHOR), Corona-Rivera, Alfredo^1,2,3 (AUTHOR) alcoronar@gmail.com

Source: Oncology Letters. Jun2019, Vol. 17 Issue 6, p5224-5240. 17p.

Subject Terms: *VINCRISTINE, *LYMPHOBLASTIC leukemia, *COMBINATION drug therapy, *ACUTE leukemia, *PROTEIN-tyrosine kinases, *GENETIC regulation

Unveiling a pathogenic FANCA gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing.

Authors: Cuero-Quezada, Idalid, Brukman-Jiménez, Sinhue Alejandro, Corona-Rivera, Alfredo, Corona-Rivera, Jorge Román, Ortiz-Sandoval, María Magdalena, Juárez-Zucco, Leonardo, Flores-Leura, Fernando Alexis, De Jesús Bustos-Rodríguez, Felipe, Bobadilla-Morales, Lucina

Source: Experimental & Therapeutic Medicine; Mar2025, Vol. 29 Issue 3, pN.PAG-N.PAG, 1p

Subject Terms: FANCONI'S anemia, HOMOLOGOUS recombination, BRIDGE maintenance & repair, LYMPHOID tissue, GENETIC variation

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.

Authors: Corona-Rivera, Jorge Román, Zenteno, Juan Carlos, López-Pérez, Leopoldo Gildardo, Yokoyama-Rebollar, Emiy, Villarroel, Camilo E., Barragán-Arévalo, Tania, Montes-Almanza, Luis Ángel, Zepeda-Romero, Luz Consuelo, Morales-Domínguez, Guadalupe Elena, Peña-Padilla, Christian, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo

Source: Molecular Syndromology; 2023, Vol. 14 Issue 2, p143-151, 9p

Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.

Authors: González-Rodríguez, María Teresa Alejandra, Brukman-Jiménez, Sinhue Alejandro, Cuero-Quezada, Idalid, Corona-Rivera, Jorge Román, Corona-Rivera, Alfredo, Serafín-Saucedo, Graciela, Aguirre-Salas, Liuba M., Bobadilla-Morales, Lucina

Source: Genes; Feb2023, Vol. 14 Issue 2, p253, 9p

Subject Terms: GENETIC markers, TURNER'S syndrome, X chromosome, KARYOTYPES, COMPARATIVE genomic hybridization, TYPE 2 diabetes

Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.

Authors: Rivera-Vargas, Jehú, Superti-Furga, Andrea, Bonafé, Luisa, Peña-Padilla, Christian, Cortés-Pastrana, Rocío Carolina, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Corona-Rivera, Jorge Román

Source: Clinical Dysmorphology; Jan2023, Vol. 32 Issue 1, p14-17, 4p

Anomalía de prune-belly en un paciente con síndrome de Edwards. (Spanish)

Alternate Title: Prune-belly anomaly in a patient with Edwards syndrome. (English)

Authors: Ríos-Flores, Izabel Marialexandra, Corona-Rivera, Alfredo, Bobadilla-Morales, Lucina, Peña-Padilla, Christian, Rocha-Castro, Denys Vanessa, Corona-Rivera, Jorge Román

Source: Revista Mexicana de Pediatria; ene/feb2023, Vol. 90 Issue 1, p17-21, 5p