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1 |
Material Type: Dissertação de Mestrado
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Aspectos clínicos e laboratoriais sugestivos de síndrome de DiGeorge em pacientes com cardiopatias congênitas conotruncais e CIVAraújo, Talita Vasconcelos MouraBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina de Ribeirão Preto 2023-03-02Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Tese de Doutorado
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Detecção precoce da deleção 22q11.2 em recém-nascidos e lactentes portadores de cardiopatia congênitaGrassi, Marcilia SierroBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2019-12-12Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Artigo
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionCleynen, Isabelle ; Engchuan, Worrawat ; Hestand, Matthew S ; Heung, Tracy ; Holleman, Aaron M ; Johnston, H Richard ; McDonald-McGinn, Donna M ; Gur, Raquel E ; Morrow, Bernice E ; Swillen, Ann ; Vorstman, Jacob A S ; Bearden, Carrie E ; Chow, Eva W C ; van den Bree, Marianne ; Emanuel, Beverly S ; Vermeesch, Joris R ; Warren, Stephen T ; Owen, Michael J ; Cutler, David J ; Duncan, Richard ; Mulle, Jennifer G ; Voss, Anna J ; Zwick, Michael E ; Diacou, Alexander ; Guo, Tingwei ; Lin, Jhih-Rong ; Wang, Tao ; Zhang, Zhengdong ; Zhao, Yingjie ; Jin, Andrea ; Lilley, Brenna ; Salmons, Harold I ; Tran, Oanh ; Holmans, Peter ; Pardinas, Antonio ; Walters, James T R ; Demaerel, Wolfram ; Butcher, Nancy J ; Costain, Gregory A ; Lowther, Chelsea ; Evers, Rens ; van Amelsvoort, Therese A M J ; van Duin, Esther ; Breckpot, Jeroen ; Devriendt, Koen ; Vergaelen, Elfi ; Vogels, Annick ; Crowley, T Blaine ; McGinn, Daniel E ; Moss, Edward M ; Sharkus, Robert J ; Unolt, Marta ; Zackai, Elaine H ; Calkins, Monica E ; Gallagher, Robert S ; Gur, Ruben C ; Fritsch, Rosemarie ; Ornstein, Claudia ; Breetvelt, Elemi ; Duijff, Sasja N ; Fiksinski, Ania ; Moss, Hayley ; Niarchou, Maria ; Murphy, Kieran C ; Daly, Eileen M ; Gudbrandsen, Maria ; Murphy, Clodagh M ; Murphy, Declan G ; Buzzanca, Antonio ; Fabio, Fabio Di ; Digilio, Maria C ; Pontillo, Maria ; Cubells, Joseph F ; Gothelf, Doron ; Mekori-Domachevsky, Ehud ; Michaelovsky, Elena ; Weizman, Abraham ; Kushan, Leila ; Jalbrzikowski, Maria ; Armando, Marco ; Eliez, Stéphan ; Sandini, Corrado ; Schneider, Maude ; Antshel, Kevin M ; Fremont, Wanda ; Kates, Wendy R ; McCabe, Kathryn L ; Hooper, Stephen R ; Schoch, Kelly ; Shashi, Vandana ; Simon, Tony J ; Arango, Celso ; Fraguas, David ; García-Miñaúr, Sixto ; Morey-Canyelles, Jaume ; Rosell, Jordi ; Suñer, Damià H ; Epstein, Michael P ; Williams, Nigel M ; Bassett, Anne SMolecular psychiatry, 2021-08, Vol.26 (8), p.4496-4510 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genetic Drivers of Kidney Defects in the DiGeorge SyndromeLopez-Rivera, Esther ; Liu, Yangfan P ; Verbitsky, Miguel ; Anderson, Blair R ; Capone, Valentina P ; Otto, Edgar A ; Yan, Zhonghai ; Mitrotti, Adele ; Martino, Jeremiah ; Steers, Nicholas J ; Fasel, David A ; Vukojevic, Katarina ; Deng, Rong ; Racedo, Silvia E ; Liu, Qingxue ; Werth, Max ; Westland, Rik ; Vivante, Asaf ; Makar, Gabriel S ; Bodria, Monica ; Sampson, Matthew G ; Gillies, Christopher E ; Vega-Warner, Virginia ; Maiorana, Mariarosa ; Petrey, Donald S ; Honig, Barry ; Lozanovski, Vladimir J ; Salomon, Rémi ; Heidet, Laurence ; Carpentier, Wassila ; Gaillard, Dominique ; Carrea, Alba ; Gesualdo, Loreto ; Cusi, Daniele ; Izzi, Claudia ; Scolari, Francesco ; van Wijk, Joanna A.E ; Arapovic, Adela ; Saraga-Babic, Mirna ; Saraga, Marijan ; Kunac, Nenad ; Samii, Ali ; McDonald-McGinn, Donna M ; Crowley, Terrence B ; Zackai, Elaine H ; Drozdz, Dorota ; Miklaszewska, Monika ; Tkaczyk, Marcin ; Sikora, Przemyslaw ; Szczepanska, Maria ; Mizerska-Wasiak, Malgorzata ; Krzemien, Grazyna ; Szmigielska, Agnieszka ; Zaniew, Marcin ; Darlow, John M ; Puri, Prem ; Barton, David ; Casolari, Emilio ; Furth, Susan L ; Warady, Bradley A ; Gucev, Zoran ; Hakonarson, Hakon ; Flogelova, Hana ; Tasic, Velibor ; Latos-Bielenska, Anna ; Materna-Kiryluk, Anna ; Allegri, Landino ; Wong, Craig S ; Drummond, Iain A ; D’Agati, Vivette ; Imamoto, Akira ; Barasch, Jonathan M ; Hildebrandt, Friedhelm ; Kiryluk, Krzysztof ; Lifton, Richard P ; Morrow, Bernice E ; Jeanpierre, Cecile ; Papaioannou, Virginia E ; Ghiggeri, Gian Marco ; Gharavi, Ali G ; Katsanis, Nicholas ; Sanna-Cherchi, SimoneThe New England journal of medicine, 2017-02, Vol.376 (8), p.742-754 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging studyVillalón-Reina, Julio E ; Martínez, Kenia ; Qu, Xiaoping ; Ching, Christopher R K ; Nir, Talia M ; Kothapalli, Deydeep ; Corbin, Conor ; Sun, Daqiang ; Lin, Amy ; Forsyth, Jennifer K ; Kushan, Leila ; Vajdi, Ariana ; Jalbrzikowski, Maria ; Hansen, Laura ; Jonas, Rachel K ; van Amelsvoort, Therese ; Bakker, Geor ; Kates, Wendy R ; Antshel, Kevin M ; Fremont, Wanda ; Campbell, Linda E ; McCabe, Kathryn L ; Daly, Eileen ; Gudbrandsen, Maria ; Murphy, Clodagh M ; Murphy, Declan ; Craig, Michael ; Emanuel, Beverly ; McDonald-McGinn, Donna M ; Vorstman, Jacob A S ; Fiksinski, Ania M ; Koops, Sanne ; Ruparel, Kosha ; Roalf, David ; Gur, Raquel E ; Eric Schmitt, J ; Simon, Tony J ; Goodrich-Hunsaker, Naomi J ; Durdle, Courtney A ; Doherty, Joanne L ; Cunningham, Adam C ; van den Bree, Marianne ; Linden, David E J ; Owen, Michael ; Moss, Hayley ; Kelly, Sinead ; Donohoe, Gary ; Murphy, Kieran C ; Arango, Celso ; Jahanshad, Neda ; Thompson, Paul M ; Bearden, Carrie EMolecular psychiatry, 2020-11, Vol.25 (11), p.2818-2831 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohortBevilacqua, E. ; Jani, J. C. ; Chaoui, R. ; Suk, E.‐K. A. ; Palma‐Dias, R. ; Ko, T.‐M. ; Warsof, S. ; Stokowski, R. ; Jones, K. J. ; Grati, F. R. ; Schmid, M.Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (4), p.597-602 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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22q and two: 22q11.2 deletion syndrome and coexisting conditionsCohen, Jennifer L. ; Crowley, Terrence B. ; McGinn, Daniel E. ; McDougall, Carey ; Unolt, Marta ; Lambert, Michele P. ; Emanuel, Beverly S. ; Zackai, Elaine H. ; McDonald‐McGinn, Donna M.American journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2203-2214 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior ConsortiumGur, R E ; Bassett, A S ; McDonald-McGinn, D M ; Bearden, C E ; Chow, E ; Emanuel, B S ; Owen, M ; Swillen, A ; Van den Bree, M ; Vermeesch, J ; Vorstman, J A S ; Warren, S ; Lehner, T ; Morrow, BMolecular psychiatry, 2017-12, Vol.22 (12), p.1664-1672 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndromeHasten, Erica ; Morrow, Bernice E Barsh, Gregory S.PLoS genetics, 2019-08, Vol.15 (8), p.e1008301-e1008301 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?Motahari, Zahra ; Moody, Sally Ann ; Maynard, Thomas Michael ; LaMantia, Anthony-SamuelJournal of neurodevelopmental disorders, 2019-06, Vol.11 (1), p.7-28, Article 7 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |