المؤلفون: Zhao, Yingjie, Wang, Yujue, Shi, Lijie, McDonald-McGinn, Donna, Crowley, T, McGinn, Daniel, Tran, Oanh, Miller, Daniella, Lin, Jhih-Rong, Zackai, Elaine, Johnston, H, Chow, Eva, Vorstman, Jacob, Vingerhoets, Claudia, van Amelsvoort, Therese, Gothelf, Doron, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris, Eliez, Stephan, Schneider, Maude, van den Bree, Marianne, Owen, Michael, Kates, Wendy, Repetto, Gabriela, Shashi, Vandana, Schoch, Kelly, Digilio, M, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Pontillo, Maria, Armando, Marco, Vicari, Stefano, Angkustsiri, Kathleen, Campbell, Linda, Busa, Tiffany, Heine-Suñer, Damian, Murphy, Kieran, Murphy, Declan, García-Miñaúr, Sixto, Fernández, Luis, Zhang, Zhengdong, Goldmuntz, Elizabeth, Gur, Raquel, Emanuel, Beverly, Zheng, Deyou, Marshall, Christian, Bassett, Anne, Wang, Tao, Morrow, Bernice, Bearden, Carrie

المصدر: npj Genomic Medicine. 8(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9wr2r6sj
https://escholarship.org/content/qt9wr2r6sj/qt9wr2r6sj.pdf

المؤلفون: Fiksinski, Ania M, Bearden, Carrie E, Bassett, Anne S, Kahn, René S, Zinkstok, Janneke R, Hooper, Stephen R, Tempelaar, Wanda, McDonald-McGinn, Donna, Swillen, Ann, Emanuel, Beverly, Morrow, Bernice, Gur, Raquel, Chow, Eva, van den Bree, Marianne, Vermeesch, Joris, Warren, Stephen, Owen, Michael, van Amelsvoort, Therese, Eliez, Stephan, Gothelf, Doron, Arango, Celso, Kates, Wendy, Simon, Tony, Murphy, Kieran, Repetto, Gabriela, Suner, Damian Heine, Vicari, Stefano, Cubells, Joseph, Armando, Marco, Philip, Nicole, Campbell, Linda, Garcia-Minaur, Sixto, Schneider, Maude, Shashi, Vandana, Vorstman, Jacob, Breetvelt, Elemi J

المصدر: Neuropsychopharmacology. 47(7)

مصطلحات موضوعية: Brain Disorders, Serious Mental Illness, Pediatric, Mental Health, Schizophrenia, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adult, Cognition, DiGeorge Syndrome, Humans, Intelligence Tests, 22q11DS International Consortium on Brain and Behavior, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1b91b5bs

المؤلفون: Jacquemont, Sébastien, Huguet, Guillaume, Klein, Marieke, Chawner, Samuel JRA, Donald, Kirsten A, van den Bree, Marianne BM, Sebat, Jonathan, Ledbetter, David H, Constantino, John N, Earl, Rachel K, McDonald-McGinn, Donna M, van Amelsvoort, Therese, Swillen, Ann, O’Donnell-Luria, Anne H, Glahn, David C, Almasy, Laura, Eichler, Evan E, Scherer, Stephen W, Robinson, Elise, Bassett, Anne S, Martin, Christa Lese, Finucane, Brenda, Vorstman, Jacob AS, Bearden, Carrie E, Gur, Raquel E

المصدر: American Journal of Psychiatry. 179(3)

مصطلحات موضوعية: Clinical and Health Psychology, Biomedical and Clinical Sciences, Clinical Sciences, Psychology, Behavioral and Social Science, Biotechnology, Human Genome, Brain Disorders, Mental Health, Genetics, Basic Behavioral and Social Science, Mental health, Good Health and Well Being, Cognition, Humans, Mental Disorders, Psychiatry, Psychopathology, Genes to Mental Health Network, Autism Spectrum Disorder, Diagnosis and Classification, Genetics/Genomics, Intellectual Disabilities, Neurodevelopmental Disorders, Schizophrenia Spectrum and Other Psychotic Disorders, Medical and Health Sciences, Psychology and Cognitive Sciences, Clinical sciences, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4x6543r3

المؤلفون: Freud, Lindsay R, Galloway, Stephanie, Crowley, T Blaine, Moldenhauer, Julie, Swillen, Ann, Breckpot, Jeroen, Borrell, Antoni, Vora, Neeta L, Cuneo, Bettina, Hoffman, Hilary, Gilbert, Lisa, Nowakowska, Beata, Geremek, Maciej, Kutkowska-Kaźmierczak, Anna, Vermeesch, Joris R, Devriendt, Koen, Busa, Tiffany, Sigaudy, Sabine, Vigneswaran, Trisha, Simpson, John M, Dungan, Jeffrey, Gotteiner, Nina, Gloning, Karl-Philipp, Digilio, Maria Cristina, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Repetto, Gabriela, Fadic, Magdalena, Garcia-Minaur, Sixto, Achón Buil, Ana, Thomas, Mary Ann, Fruitman, Deborah, Beecroft, Taylor, Hui, Pui Wah, Oskarsdottir, Solveig, Bradshaw, Rachael, Criebaum, Amanda, Norton, Mary E, Lee, Tiffany, Geiger, Miwa, Dunnington, Leslie, Isaac, Jacqueline, Wilkins-Haug, Louise, Hunter, Lindsey, Izzi, Claudia, Toscano, Marika, Ghi, Tullio, McGlynn, Julie, Romana Grati, Francesca, Emanuel, Beverly S, Gaiser, Kimberly, Gaynor, J William, Goldmuntz, Elizabeth, McGinn, Daniel E, Schindewolf, Erica, Tran, Oanh, Zackai, Elaine H, Yan, Qi, Bassett, Anne S, Wapner, Ronald, McDonald-McGinn, Donna M

المساهمون: Freud Lindsay R, Galloway Stephanie, Crowley T Blaine, Moldenhauer Julie, Swillen Ann, Breckpot Jeroen, Borrell Antoni, Vora Neeta L, Cuneo Bettina, Hoffman Hilary, Gilbert Lisa, Nowakowska Beata, Geremek Maciej, Kutkowska-Kaźmierczak Anna, Vermeesch Joris R, Devriendt Koen, Busa Tiffany, Sigaudy Sabine, Vigneswaran Trisha, Simpson John M, Dungan Jeffrey, Gotteiner Nina, Gloning Karl-Philipp, Digilio Maria Cristina, Unolt Marta, Putotto Carolina, Marino Bruno, Repetto Gabriela, Fadic Magdalena, Garcia-Minaur Sixto, Achón Buil Ana, Thomas Mary Ann, Fruitman Deborah, Beecroft Taylor, Hui Pui Wah, Oskarsdottir Solveig, Bradshaw Rachael, Criebaum Amanda, Norton Mary E, Lee Tiffany, Geiger Miwa, Dunnington Leslie, Isaac Jacqueline, Wilkins-Haug Louise, Hunter Lindsey, Izzi Claudia, Toscano Marika, Ghi Tullio, Mcglynn Julie, Romana Grati Francesca, Emanuel Beverly S, Gaiser Kimberly, Gaynor J William, Goldmuntz Elizabeth, Mcginn Daniel E, Schindewolf Erica, Tran Oanh, Zackai Elaine H, Yan Qi, Bassett Anne S, Wapner Ronald, McDonald-McGinn Donna M

مصطلحات موضوعية: 22q11.2 deletion syndrome, congenital heart disease, genetic syndrome, infant morbidity, infant mortality, perinatal outcome, prenatal diagnosis

Relation: info:eu-repo/semantics/altIdentifier/pmid/37717890; info:eu-repo/semantics/altIdentifier/wos/WOS:001203611200001; volume:230; issue:3; journal:AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY; https://hdl.handle.net/11379/617207

الاتاحة: https://hdl.handle.net/11379/617207
https://doi.org/10.1016/j.ajog.2023.09.005

المؤلفون: Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S, Heung, Tracy, Holleman, Aaron M, Johnston, H Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M, Gur, Raquel E, Morrow, Bernice E, Swillen, Ann, Vorstman, Jacob AS, Bearden, Carrie E, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, Warren, Stephen T, Owen, Michael J, Chopra, Pankaj, Cutler, David J, Duncan, Richard, Kotlar, Alex V, Mulle, Jennifer G, Voss, Anna J, Zwick, Michael E, Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I, Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James TR, Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J, Costain, Gregory A, Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese AMJ, van Duin, Esther, Vingerhoets, Claudia, 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, Tang, Sunny X, Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M, Breetvelt, Elemi, Duijff, Sasja N, Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C, Prasad, Sarah E, Daly, Eileen M, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Buzzanca, Antonio, Fabio, Fabio Di, Digilio, Maria C, Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F, Ousley, Opal Y, Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, Schneider, Maude

المصدر: Molecular psychiatry. 26(8)

مصطلحات موضوعية: International 22q11.2DS Brain and Behavior Consortium, Prevention, Serious Mental Illness, Genetics, Human Genome, Schizophrenia, Neurosciences, Mental Health, Clinical Research, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Mental health, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1wx189cs

المؤلفون: Gur, Ruben C., Bearden, Carrie E., Jacquemont, Sebastien, Swillen, Ann, van Amelsvoort, Therese, van den Bree, Marianne, Vorstman, Jacob, Sebat, Jonathan, Ruparel, Kosha, Gallagher, Robert Sean, McClellan, Emily, White, Lauren, Crowley, Terrence Blaine, Giunta, Victoria, Kushan, Leila, O’Hora, Kathleen, Verbesselt, Jente, Vandensande, Ans, Vingerhoets, Claudia, van Haelst, Mieke, Hall, Jessica, Harwood, Janet, Chawner, Samuel J. R. A., Patel, Nishi, Palad, Katrina, Hong, Oanh, Guevara, James, Martin, Charles Olivier, Jizi, Khadije, Bélanger, Anne-Marie, Scherer, Stephen W., Bassett, Anne S., McDonald-McGinn, Donna M., Gur, Raquel E.

المصدر: Gur , R C , Bearden , C E , Jacquemont , S , Swillen , A , van Amelsvoort , T , van den Bree , M , Vorstman , J , Sebat , J , Ruparel , K , Gallagher , R S , McClellan , E , White , L , Crowley , T B , Giunta , V , Kushan , L , O’Hora , K , Verbesselt , J , Vandensande , A , Vingerhoets , C , van Haelst , M , Hall , J , Harwood , J , Chawner , S ....

الاتاحة: https://research.vumc.nl/en/publications/259ec1f2-2609-4a7c-8efc-cc1a21e692cb
https://doi.org/10.1038/s41380-024-02661-y
http://www.scopus.com/inward/record.url?scp=85199453546&partnerID=8YFLogxK

المؤلفون: Finless, Alexandra, Rideout, Andrea L., Xiong, Ting, Carbyn, Holly, Lingley-Pottie, Patricia, Palmer, Lisa D., Shugar, Andrea, McDonald-McGinn, Donna M., McGrath, Patrick J., Bassett, Anne S., Cytrynbaum, Cheryl, Orr, Matt, Swillen, Ann, Meier, Sandra

المساهمون: Canadian Institute for Health Research (CIHR) Canadian Research Chairs, Team Grant: Transnational Research Projects on Rare Diseases, Canadian Foundation for Innovation (CFI) John R. Evans Leaders Fund

المصدر: European Journal of Psychotraumatology ; volume 15, issue 1 ; ISSN 2000-8066

الاتاحة: http://dx.doi.org/10.1080/20008066.2024.2353532
https://www.tandfonline.com/doi/pdf/10.1080/20008066.2024.2353532

المؤلفون: Davies, Robert W, Fiksinski, Ania M, Breetvelt, Elemi J, Williams, Nigel M, Hooper, Stephen R, Monfeuga, Thomas, Bassett, Anne S, Owen, Michael J, Gur, Raquel E, Morrow, Bernice E, McDonald-McGinn, Donna M, Swillen, Ann, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E, Cubells, Joseph F, Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R, Murphy, Kieran C, Murphy, Clodagh M, Murphy, Declan G, Philip, Nicole, Repetto, Gabriela M, Shashi, Vandana, Simon, Tony J, Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W, Bearden, Carrie E, Vorstman, Jacob AS

المصدر: Nature Medicine. 26(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Health Sciences, Genetics, Schizophrenia, Serious Mental Illness, Behavioral and Social Science, Prevention, Brain Disorders, Clinical Research, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Aged, Child, Child, Preschool, Cognitive Dysfunction, Cohort Studies, DiGeorge Syndrome, Female, Genetic Variation, Humans, Intellectual Disability, Male, Middle Aged, Multifactorial Inheritance, Phenotype, Risk Factors, Young Adult, International 22q11.2 Brain and Behavior Consortium, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2sg8q3hf

المؤلفون: Boot, Erik, Óskarsdóttir, Sólveig, Loo, Joanne C.Y., Crowley, Terrence Blaine, Orchanian-Cheff, Ani, Andrade, Danielle M., Arganbright, Jill M., Castelein, René M., Cserti-Gazdewich, Christine, de Reuver, Steven, Fiksinski, Ania M., Klingberg, Gunilla, Lang, Anthony E., Mascarenhas, Maria R., Moss, Edward M., Nowakowska, Beata Anna, Oechslin, Erwin, Palmer, Lisa, Repetto, Gabriela M., Reyes, Nikolai Gil D., Schneider, Maude, Silversides, Candice, Sullivan, Kathleen E., Swillen, Ann, van Amelsvoort, Therese A.M.J., Van Batavia, Jason P., Vingerhoets, Claudia, McDonald-McGinn, Donna M., Bassett, Anne S.

المصدر: Genetics in Medicine. 25(3)

مصطلحات موضوعية: Adults, Aging, Clinical practice guidelines, DiGeorge syndrome, Treatment

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-58013
https://doi.org/10.1016/j.gim.2022.11.012
https://mau.diva-portal.org/smash/get/diva2:1733882/FULLTEXT01.pdf

المؤلفون: Zhao, Yingjie, Diacou, Alexander, Johnston, H Richard, Musfee, Fadi I, McDonald-McGinn, Donna M, McGinn, Daniel, Crowley, T Blaine, Repetto, Gabriela M, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R, Kates, Wendy R, Digilio, M Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J, Murphy, Kieran C, Murphy, Clodagh M, Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J, Shprintzen, Robert J, Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Consortium, International 22q11 2 Brain and Behavior, Antonarakis, Stylianos E, Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P, Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S, Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther DA, Vergaelen, Elfi, Warren, Steve T, Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E, Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob AS, Gothelf, Doron, Zackai, Elaine, Agopian, AJ, Gur, Raquel E, Bassett, Anne S, Emanuel, Beverly S, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Morrow, Bernice E

المصدر: American Journal of Human Genetics. 106(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, Chromosome Deletion, Chromosomes, Human, Pair 22, Cohort Studies, Female, Genome-Wide Association Study, Heart Defects, Congenital, Humans, Linkage Disequilibrium, Male, Phenotype, Polymorphism, Single Nucleotide, Proto-Oncogene Mas, Segmental Duplications, Genomic, International 22q11.2 Brain and Behavior Consortium, CRKL, DiGeorge syndrome, TBX1, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/38b9f8cx

المؤلفون: Droogmans, Gilles (ORCID 0000-0002-8345-7123), Vergaelen, Elfi (ORCID 0000-0002-9229-6077), Van Buggenhout, Griet (ORCID 0000-0002-1584-5327), Swillen, Ann (ORCID 0000-0003-4258-4537)

المصدر: Journal of Applied Research in Intellectual Disabilities. Jul 2021 34(4):1076-1088.

Peer Reviewed: Y

Page Count: 13

Descriptors: Genetic Disorders, Child Rearing, Stress Variables, Family Environment, Quality of Life, Parent Attitudes, Adjustment (to Environment), Well Being, Parent Role, Mothers, Fathers

المؤلفون: Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S, Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A, Coughlin, Curtis R, Chow, Stephen K, McDonald-McGinn, Donna, Morrow, Bernice, Kwok, Pui-Yan, Xiao, Ming, Emanuel, Beverly S, Shaikh, Tamim H, Vermeesch, Joris R

المصدر: Genome Research. 29(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Rare Diseases, Human Genome, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, 22q11 Deletion Syndrome, Animals, Cell Line, Chromosomal Instability, Chromosome Mapping, Chromosomes, Human, Pair 22, Evolution, Molecular, Humans, In Situ Hybridization, Fluorescence, Primates, Repetitive Sequences, Nucleic Acid, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/19t7w11c
https://escholarship.org/content/qt19t7w11c/qt19t7w11c.pdf

المؤلفون: Zhao, Yingjie, Guo, Tingwei, Fiksinski, Ania, Breetvelt, Elemi, McDonald‐McGinn, Donna M, Crowley, Terrence B, Diacou, Alexander, Schneider, Maude, Eliez, Stephan, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris, Chow, Eva WC, Gothelf, Doron, Duijff, Sasja, Evers, Rens, Amelsvoort, Thérèse A, Bree, Marianne, Owen, Michael, Niarchou, Maria, Bearden, Carrie E, Ornstein, Claudia, Pontillo, Maria, Buzzanca, Antonino, Vicari, Stefano, Armando, Marco, Murphy, Kieran C, Murphy, Clodagh, Garcia‐Minaur, Sixto, Philip, Nicole, Campbell, Linda, Morey‐Cañellas, Jaume, Raventos, Jasna, Rosell, Jordi, Heine‐Suner, Damian, Shprintzen, Robert J, Gur, Raquel E, Zackai, Elaine, Emanuel, Beverly S, Wang, Tao, Kates, Wendy R, Bassett, Anne S, Vorstman, Jacob AS, Morrow, Bernice E, Consortium, on behalf of the International 22q11 2 Brain and Behavior

المصدر: American Journal of Medical Genetics Part A. 176(10)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Acquired Cognitive Impairment, Clinical Research, Brain Disorders, Pediatric, Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Humans, Intellectual Disability, Intelligence Tests, Male, 22q11.2 deletion syndrome, deletion size, intellectual disability, IQ, low copy repeat, segmental duplication, International 22q11.2 Brain and Behavior Consortium, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6nj7d39k

المؤلفون: Guo, Tingwei, Diacou, Alexander, Nomaru, Hiroko, McDonald-McGinn, Donna M, Hestand, Matthew, Demaerel, Wolfram, Zhang, Liangtian, Zhao, Yingjie, Ujueta, Francisco, Shan, Jidong, Montagna, Cristina, Zheng, Deyou, Crowley, Terrence B, Kushan-Wells, Leila, Bearden, Carrie E, Kates, Wendy R, Gothelf, Doron, Schneider, Maude, Eliez, Stephan, Breckpot, Jeroen, Swillen, Ann, Vorstman, Jacob, Zackai, Elaine, Benavides Gonzalez, Felipe, Repetto, Gabriela M, Emanuel, Beverly S, Bassett, Anne S, Vermeesch, Joris R, Marshall, Christian R, Morrow, Bernice E

المصدر: Human Molecular Genetics. 27(7)

مصطلحات موضوعية: Rare Diseases, Pediatric, Biotechnology, Genetics, Congenital, Alleles, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Humans, Male, Meiosis, International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8w2197nk

المؤلفون: Óskarsdóttir, Sólveig, Boot, Erik, Crowley, Terrence Blaine, Loo, Joanne C.Y., Arganbright, Jill M., Armando, Marco, Baylis, Adriane L., Breetvelt, Elemi J., Castelein, René M., Chadehumbe, Madeline, Cielo, Christopher M., de Reuver, Steven, Eliez, Stephan, Fiksinski, Ania M., Forbes, Brian J., Gallagher, Emily, Hopkins, Sarah E., Jackson, Oksana A., Levitz-Katz, Lorraine, Klingberg, Gunilla, Lambert, Michele P., Marino, Bruno, Mascarenhas, Maria R., Moldenhauer, Julie, Moss, Edward M., Nowakowska, Beata Anna, Orchanian-Cheff, Ani, Putotto, Carolina, Repetto, Gabriela M., Schindewolf, Erica, Schneider, Maude, Solot, Cynthia B., Sullivan, Kathleen E., Swillen, Ann, Unolt, Marta, Van Batavia, Jason P., Vingerhoets, Claudia, Vorstman, Jacob, Bassett, Anne S., McDonald-McGinn, Donna M.

المساهمون: MS Orthopaedie Algemeen, Zorgeenheid Orthopaedie Medisch, Psychosociale zorg patientenzorg, Integrale & Algemene Kindergen Onderzoek, Brain

مصطلحات موضوعية: 22q11.2 deletion syndrome, Children, Clinical practice guidelines, Review, Treatment, Genetics(clinical)

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/456023

الاتاحة: https://dspace.library.uu.nl/handle/1874/456023

المؤلفون: Burdeus-Olavarrieta, Monica, Nevado, Julián, van Weering-Scholten, Sabrina, Parker, Susanne, Swillen, Ann

المصدر: the European Phelan-McDermid syndrome consortium , Burdeus-Olavarrieta , M , Nevado , J , van Weering-Scholten , S , Parker , S & Swillen , A 2023 , ' Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome ' , European journal of medical genetics , vol. 66 , no. 5 , 104745 . https://doi.org/10.1016/j.ejmg.2023.104745

مصطلحات موضوعية: 22q13 deletion syndrome, Communication, Language, Phelan-McDermid syndrome, SHANK3, Speech

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/e6fce2f8-c7a1-4540-900f-92d51202102b
https://research.rug.nl/en/publications/e6fce2f8-c7a1-4540-900f-92d51202102b
https://doi.org/10.1016/j.ejmg.2023.104745
https://pure.rug.nl/ws/files/691479067/1_s2.0_S1769721223000514_main.pdf

المؤلفون: Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva WC, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Murphy, Clodagh, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, Marshall, Christian R

المصدر: American Journal of Psychiatry. 174(11)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Human Genome, Mental Health, Schizophrenia, Mental Illness, Genetics, Brain Disorders, Neurosciences, Biotechnology, Serious Mental Illness, Clinical Research, 2.1 Biological and endogenous factors, Mental health, Adult, Autism Spectrum Disorder, Autistic Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, DNA Copy Number Variations, DiGeorge Syndrome, Female, Humans, Intellectual Disability, Male, Middle Aged, International 22q11.2DS Brain and Behavior Consortium, 22q11 Deletion Syndrome, Microdeletion, Psychosis, Structural Variants, Velocardiofacial Syndrome, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/30m1x645
https://escholarship.org/content/qt30m1x645/qt30m1x645.pdf

المؤلفون: Guo, Tingwei, Repetto, Gabriela M, McDonald McGinn, Donna M, Chung, Jonathan H, Nomaru, Hiroko, Campbell, Christopher L, Blonska, Anna, Bassett, Anne S, Chow, Eva WC, Mlynarski, Elisabeth E, Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E, Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E, Digilio, M Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E, Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E, Tassone, Flora, Simon, Tony J, van Duin, Esther DA, van Amelsvoort, Thérèse A, Kates, Wendy R, Zackai, Elaine, Johnston, H Richard, Cutler, David J, Agopian, AJ, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Emanuel, Beverly S, Morrow, Bernice E

المصدر: Circulation Genomic and Precision Medicine. 10(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Chromatin, Chromosomes, Human, Pair 5, DiGeorge Syndrome, Genetic Loci, Genome-Wide Association Study, Genotype, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, MEF2 Transcription Factors, Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Sequence Analysis, DNA, Tetralogy of Fallot, chromosomes, DiGeorge syndrome, genotype, ivelo-cardio-facial syndrome, tetralogy of Fallot, International 22q11.2 Consortium/Brain and Behavior Consortium*, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7hp1507k

المؤلفون: Verbesselt, Jente, Breckpot, Jeroen, Zink, Inge, Swillen, Ann

المصدر: Journal of Speech, Language & Hearing Research; Nov2024, Vol. 67 Issue 11, p4487-4503, 17p

مصطلحات موضوعية: CROSS-sectional method, COMMUNICATIVE competence, INTELLECT, CHILD psychopathology, RESEARCH funding, ACADEMIC medical centers, DATA analysis, ATTENTION-deficit hyperactivity disorder, T-test (Statistics), PSYCHOLOGY of school children, PHONOLOGICAL awareness, AUTISM, PREMATURE infants, INTERVIEWING, QUESTIONNAIRES, SEX distribution, CHROMOSOME abnormalities, VERBAL behavior testing, DESCRIPTIVE statistics, MANN Whitney U Test, LONGITUDINAL method, SPEECH evaluation, SOCIAL skills, STATISTICS, ASPERGER'S syndrome, COMPARATIVE studies, VOCABULARY, EARLY diagnosis, HEARING disorders, SPECIAL education, CONFIDENCE intervals, DATA analysis software, LANGUAGE acquisition, ARTICULATION (Speech), PHENOTYPES, COMORBIDITY, SOCIAL classes

مصطلحات جغرافية: BELGIUM

المؤلفون: Gur, Ruben, Bearden, Carrie, Jacquemont, Sébastien, Jizi, Khadije, Amelsvoort van, Therese, van den Bree, Marianne, Vorstman, Jacob, Sebat, Jonathan, Ruparel, Kosha, Gallagher, Robert, Swillen, Ann, McClellan, Emily, White, Lauren, Crowley, Terrence, Giunta, Victoria, Kushan, Leila, O'Hora, Kathleen, Verbesselt, Jente, Vandensande, Ans, Vingerhoets, Claudia, van Haelst, Mieke, Hall, Jessica, Harwood, Janet, Chawner, Samuel, Patel, Nishi, Palad, Katrina, Hong, Oanh, Guevara, James, Martin, Charles-Olivier, Bélanger, Anne-Marie, Scherer, Stephen, Bassett, Anne, McDonald-McGinn, Donna, Gur, Raquel

المصدر: Gur , R , Bearden , C , Jacquemont , S , Jizi , K , Amelsvoort van , T , van den Bree , M , Vorstman , J , Sebat , J , Ruparel , K , Gallagher , R , Swillen , A , McClellan , E , White , L , Crowley , T , Giunta , V , Kushan , L , O'Hora , K , Verbesselt , J , Vandensande , A , Vingerhoets , C , van Haelst , M , Hall , J , Harwood , J , Chawner , S ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/fb75bb61-01dc-4ddb-88e8-0e7a1d6cd992

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/fb75bb61-01dc-4ddb-88e8-0e7a1d6cd992
https://doi.org/10.21203/rs.3.rs-3393845/v1