Now showing items 1-20 of 372

    • 22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate 

      Carpeta, Suleima; Pineda Buitrago, Tatiana; Martínez, María Claudia; Osorio, Gloria; Porras Urtado, Gloria Liliana; Rojas Martínez, Jorge Armando; Zarante, Ignacio; Moreno Niño, Olga María (2018)
    • 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy 

      Li, Jingmei; Lindström, Linda S.; Foo, Jia N.; Rafiq, Sajjad; Schmidt, Marjanka K.; Pharoah, Paul D. P.; Michailidou, Kyriaki; Dennis, Joe; Bolla, Manjeet K.; Wang, Qin; Van‘t Veer, Laura J.; Cornelissen, Sten; Rutgers, Emiel; Southey, Melissa C.; Apicella, Carmel; Dite, Gillian S.; Hopper, John L.; Fasching, Peter A.; Haeberle, Lothar; Ekici, Arif B.; Beckmann, Matthias W.; Blomqvist, Carl; Muranen, Taru A.; Aittomäki, Kristiina; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Hartikainen, Jaana M.; Kataja, Vesa; Chenevix-Trench, Georgia; kConFab Investigators; Phillips, Kelly-Anne; McLachlan, Sue-Anne; Lambrechts, Diether; Thienpont, Bernard; Smeets, Ann; Wildiers, Hans; Chang-Claude, Jenny; Flesch-Janys, Dieter; Seibold, Petra; Rudolph, Anja; Giles, Graham G.; Baglietto, Laura; Severi, Gianluca; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Marchand, Loic Le; Kristensen, Vessela; Grenaker Alnæs, Grethe I.; Borresen-Dale, Anne-Lise; Nord, Silje; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert; Seynaeve, Caroline; Hooning, Maartje; Kriege, Mieke; Hollestelle, Antoinette; Van Den Ouweland, Ans; Li, Yi; Hamann, Ute; Torres, Diana; Ulmer, Hans U.; Rüdiger, Thomas; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Chen, Shou-Tung; Teo, Soo Hwang; Mohd Taib, Nur Aishah; Yip, Cheng Har; Ho, Gwo Fuang; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tajima, Kazuo; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K.; Yoo, Keun-Young; Maishman, Tom; Tapper, William J.; Dunning, Alison; Shah, Mitul; Luben, Robert; Brown, Judith; Khor, Chiea Chuen; Eccles, Diana M.; Nevanlinna, Heli; Easton, Douglas; Humphreys, Keith; Liu, Jianjun; Hall, Per; Czene, Kamila (2014-06-17)
    • 8q22.2q22.3 Microdeletion syndrome associated with hearing loss and intractable epilepsy 

      Rincón Bolívar, Leidy Alejandra; Páez Rojas, Paola Liliana; Suárez Obando, Fernando (2018-12-02)
    • A bibliometric analysis of the global research on sofosbuvir 

      Hernández Vásquez, Akram; Rosselli, Diego (2017-08-22)
      In this article, we examine the research on sofosbuvir with a bibliometric analysis of global research production. The study of sofosbuvir has been a field of intense research in the past few years, with Latin American ...
    • A Colombian Caribbean population study of 16 Y-chromosome STR loci 

      Romero, Rosa Elena; Briceño Balcazar, Ignacio; Lizarazo, Rocío del Pilar; Willuweit, Sascha; Roewer, Lutz; Gómez Gutiérrez, Alberto (2008-03)
    • A common coding variant in CASP8 is associated with breast cancer risk 

      Cox, Angela; Dunning, Alison M.; Garcia-Closas, Montserrat; Balasubramanian, Sabapathy; Reed, Malcolm W. R.; Pooley, Karen A.; Scollen, Serena; Baynes, Caroline; Ponder, Bruce A. J.; Chanock, Stephen; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Southey, Melissa C.; Hopper, John L.; McCredie, Margaret R. E.; Giles, Graham G.; Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Gibson, Lorna; Bojesen, Stig E.; Nordestgaard, Børge G.; Axelsson, Christen K.; Torres, Diana; Hamann, Ute; Justenhoven, Christina; Brauch, Hiltrud; Chang-Claude, Jenny; Kropp, Silke; Risch, Angela; Wang-Gohrke, Shan; Schürmann, Peter; Bogdanova, Natalia; Dörk, Thilo; Fagerholm, Rainer; Aaltonen, Kirsimari; Blomqvist, Carl; Nevanlinna, Heli; Seal, Sheila; Renwick, Anthony; Stratton, Michael R.; Rahman, Nazneen; Sangrajrang, Suleeporn; Hughes, David; Odefrey, Fabrice; Brennan, Paul; Spurdle, Amanda B.; Chenevix-Trench, Georgia; The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Beesley, Jonathan; Mannermaa, Arto; Hartikainen, Jaana; Kataja, Vesa; Kosma, Veli-Matti; Couch, Fergus J.; Olson, Janet E.; Goode, Ellen L.; Broeks, Annegien; Schmidt, Marjanka K.; Hogervorst, Frans B. L.; Veer, Laura J. Van't; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Wedrén, Sara; Hall, Per; Low, Yen-Ling; Liu, Jianjun; Milne, Roger L.; Ribas, Gloria; Gonzalez-Neira, Anna; Benitez, Javier; Sigurdson, Alice J.; Stredrick, Denise L.; Alexander, Bruce H.; Struewing, Jeffery P.; Pharoah, Paul D. P.; Easton, Douglas F.; Breast Cancer Association Consortium (2007-02-11)
    • A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean 

      Zarante, Ignacio; Hurtado Villa, Paula; Walani, Salimah R; Kancherla, Vijaya; López Camelo, Jorge; Giugliani, Roberto; Groisman, Boris; Howson, Christopher P; Durán, Pablo (2019-03)
      Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la ...
    • A multi-country study of prevalence and early childhood mortality among children with omphalocele 

      N. Nembhard, Wendy; H. Bergman, Jorieke E.; D. Politis, Maria; Arteaga-Vázquez, Jazmín; Bermejo-Sánchez, Eva; A. Canfield, Mark; D. Cragan, Janet; Dastgiri, Saeed; K. de Walle, Hermien E; L. Feldkamp, Marcia; Nance, Amy; Gatt, Miriam; Groisman, Boris; Hurtado-Villa, Paula; Kallén, Kärin; Landau, Danielle; Lelong, Nathalie; Lopez-Camelo, Jorge; Martinez, Laura; Morgan, Margery; Pierini, Anna; Rissmann, Anke; Šípek, Antonin; Szabova, Elena; Tagliabue, Giovanna; Wertelecki, Wladimir; Zarante Montoya, Ignacio Manuel; K. Bakker, Marian; Kancherla, Vijaya; Mastroiacovo, Pierpaolo (2020-10-17)
    • A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy 

      Rodríguez-Ballesteros, Montserrat; Reynoso, Raúl; Olarte Giraldo, Margarita María; Villamar López, Manuela; Morera Pérez, Constantino; Santarelli, Rosamaria; Arslan, Edoardo; Medá, Carme; Curet, Carlos Augusto; Völter, Christiane; Sainz-Quevedo, Manuel; Castorina, Pierangela; Ambrosetti, Umberto; Berrettini, Stefano; Frei, Klemens; Tedín García, Socorro; Smith, Janine Margo; Tapia Toca, María Cruz; Cavallé Garrido, Laura; Gelvez Moyano, Nancy Yaneth; Primignani, Paola; Gómez-Rosas, Elena; Martín, Mirta; Moreno Pelayo, Miguel Ángel; Tamayo Fernández, Martha Lucia; Moreno Barral, José; Moreno Herrero, Felipe; Castillo Fernández del Pino, Ignacio del (2008)
    • A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients 

      Seibold, Petra; Schmezer, Peter; Behrens, Sabine; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Flesch Janys, Dieter; Nevanlinna, Heli; Fagerholm, Rainer; Aittomaki, Kristiina; Blomqvist, Carl; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli Matti; Hartikainen, Jaana M.; Lambrechts, Diether; Wildiers, Hans; Kristensen, Vessela; Alnaes, Grethe Grenaker; Nord, Silje; Borresen Dale, Anne Lise; Hooning, Maartje J.; Hollestelle, Antoinette; Jager, Agnes; Seynaeve, Caroline; Li, Jingmei; Liu, Jianjun; Humphreys, Keith; Dunning, Alison M.; Rhenius, Valerie; Shah, Mitul; Kabisch, Maria; Torres, Diana; Ulmer, Hans Ulrich; Hamann, Ute; Schildkraut, Joellen M.; Purrington, Kristen S.; Couch, Fergus J.; Hall, Per; Pharoah, Paul; Easton, Doug F.; Schmidt, Marjanka K.; Chang-Claude, Jenny; Popanda, Odilia (2015-12-16)
    • A reliable and reproducible model for assessing the effect of different concentrations of of 𝛼-solanine on ratbone marrow mesenchymal stem cells 

      Ordoñez Vásquez, Adriana; Jaramillo Gómez, Lorenza María; Duran Correa, Camilo; Escamilla García, Erandi; Garza Ramos, Myriam Angélica de la; Suárez Obando, Fernando (2017-10-22)
    • A TGF-B mediated regulatory mechanism modulates the T cell immune response to rotavirus in adults but not in children 

      Mesa Villanueva, Martha Cecilia; Gutiérrez Zapata, Lina María; Duarte Rey, Carolina; Ángel Uribe, Juanita; Franco Cortés, Manuel Antonio (2010-01-22)
    • A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer 

      Wu, Lang; Shi, Wei; Largo, Jirong; Guo, Xingyi; Michailidou, Kyriaki; Beesley, Jonathan; Bolla, Manjeet k.; Shu, Xiao-Ou; Lu, Yingchang; Cai, Qiuyin; Al-Ejeh, Tarifas; Rozali, ESDY; Wang, Qin; Dennis, Joe; Li, Bingshan; Zeng, Chenjie; Feng, Helian; Gusev, Alexander; Barfield, Richard T.; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J.; Auer, Paul L.; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias w.; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Broberg, Por; Brucker, Sara Y.; Burwinkel, Barbara; Caldés, Trinidad; Canzian, Federico; Carter, Brian D.; Castelao, J. Esteban; Chang-Claude, Jenny; Chen, Xiaoqing; Cheng, Ting-Yuan David; Christiansen, Hans; Clarke, Christine L.; NBCS, Colaboradores; Collée, Margriet; Cornelissen, Sten; Couch, Fergus J.; Cox, David; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Doheny, Kimberly F.; Dörk, Thilo; dos-Santos-Silva, Isabel; Dumont, Martine; Dwek, Miriam; Eccles, Diana M.; Eilber, Ursula; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Fachal, Laura; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gabrielson, Marike; Gago-Domínguez, Manuela; Gapstur, Susan M.; García-Closas, Montserrat; Gaudet, Mia M.; Ghoussaini, Maya; Giles, Graham G.; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Guénel, Pascal; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Sala, Por; Hallberg, Emily; Hamann, Ute; Harrington, Patricia; Hein, Alexander; Hicks, Belynda; Hillemanns, Peter; Hollestelle, Antoinette; Hoover, Robert N.; Hopper, John L.; Huang, Guanmengqian; Humphreys, Keith; Hunter, David J.; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael E.; Jung, Audrey; Kaaks, Rudolf; Kerin, Michael J.; Khusnutdinova, Elza; Kosma, Veli-Matti; Kristensen, Vessela N.; Lambrechts, Diether; Marchand, Loic Le; Li, Jingmei; Lindström, Sara; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Lubinski, Jan; Luccarini, Craig; Lux, Michael P.; MacInnis, Robert J.; Maishman, Tom; Kostovska, Ivana Maleva; Mannermaa, Arto; Manson, JoAnn E.; Margolin, Sara; Mavroudis, Dimitrios; Meijers-Heijboer, Hanne; Meindl, Alfons; Menon, Usha; Meyer, Jeffery; Mulligan, Anna Marie; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F.; Nordestgaard, Børge G.; Olopade, Olufunmilayo I.; Olson, Janet E.; Olsson, Håkan; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gad; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Rudolph, Anja; Saloustros, Emmanouil; Sandler, Dale P.; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Scott, Rodney J.; Scott, Christopher G.; Seal, Sheila; Shah, Mitul; Shrubsole, Martha J.; Smeets, Ann; Southey, Melissa C.; Spinelli, John J.; Stone, Jennifer; surowy, Harald; Swerdlow, Anthony J.; Tamimi, Rulla M.; Tapper, William; Taylor, Jack A.; Terry, Mary Beth; Tessier, Daniel C.; Thomas, Abigail; Thöne, Kathrin; Tollenaar, Rob AEM; Torres, Diana; Truong, Teresa; Untch, Michael; Vachon, Celine; Den Berg , David Van; Vincent, Daniel; Waisfisz, Quinten; Weinberg, Clarice R.; Wendt, Camilla; Whittemore, Alice S.; Wildiers, Hans; Willett, Walter C.; Winqvist, Robert; Wolk, Alicja; Xia, Lucy; Yang, Xiaohong R.; Ziogas, Argyrios; Ziv, Elad; AOCS, Investigadores de kConFab; Dunning, Alison M.; Pharoah, Paul DP; Simard, Jacques; Milne, Roger L.; Edwards, Stacey L.; Kraft, Peter; Easton, Douglas F.; Chenevix-Trench &, Georgia; Zheng, Wei (2018-06-18)
    • Absence of the BRCA1 del (exons 9-12) mutation in breast/ovarian cancer families outside of Mexican Hispanics 

      Torres, Diana; Rashid, Muhammad U.; Seidel-Renkert, Antje; Weitzel, Jeffrey N.; Briceno, Ignacio; Hamann, Ute; Colombian Breast Cancer Study Group (COLBCS) (2009-03-31)
    • Acercamiento a los estudios actuales sobre el filo Tardigrada y su importancia en la medicina 

      Beltrán Pardo, Eliana Andrea; Bernal Villegas, Jaime Eduardo (2009-09)
      La siguiente revisión permite obtener una visión global de los diferentes estudios que se han llevado a cabo en la actualidad respecto a los tardígrados, principalmente a nivel molecular y genético. Los documentos consultados ...
    • Achalasia familiar : report of a family with an autosomal dominant pattern of inherence 

      Gordillo Gonzalez, Gisel; Guatibonza, Yeinny Pilar; Zarante, Ignacio; Roa, Paola; Jacome, L. A.; Hani, A. (2011-01)
    • Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem 

      Cifuentes, Yolanda; De la Hoz, Isabel; Bermúdez De Rincón, Martha Cecilia; Arteaga Díaz, Clara Eugenia (2008)
      La acidemia propiónica es un error innato del metabolismo de herencia autosómica recesiva, causada por la deficiencia de la enzima propionil CoA carboxilasa, que cataliza la conversión de propionil CoA a malonil CoA. Es ...
    • Acondrogénesis tipo IA : reporte de caso 

      Acosta Guio, Johanna Carolina; Olaya-C., Mercedes; Zarante, Ignacio (2011-06-01)
      La condrogénesis tipo IA (#MiM 200600) es una rara y letal displasia esquelética, caracterizada por un grave retardo de la osificación, con modo de herencia autosómico recesivo. hasta el momento se desconocen ...