Search Results - "Chow, Eva"

Practical guidelines for managing adults with 22q11.2 deletion syndrome by Fung, Wai Lun Alan, Butcher, Nancy J., Costain, Gregory, Andrade, Danielle M., Boot, Erik, Chow, Eva W.C., Chung, Brian, Cytrynbaum, Cheryl, Faghfoury, Hanna, Fishman, Leona, García-Miñaúr, Sixto, George, Susan, Lang, Anthony E., Repetto, Gabriela, Shugar, Andrea, Silversides, Candice, Swillen, Ann, van Amelsvoort, Therese, McDonald-McGinn, Donna M., Bassett, Anne S.

“…22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of…”
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Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome by Schneider, Maude, Debbané, Martin, Bassett, Anne S., Chow, Eva W.C., Fung, Wai Lun Alan, van den Bree, Marianne B.M., Owen, Michael, Murphy, Kieran C., Niarchou, Maria, Kates, Wendy R., Antshel, Kevin M., Fremont, Wanda, McDonald-McGinn, Donna M., Gur, Raquel E., Zackai, Elaine H., Vorstman, Jacob, Duijff, Sasja N., Klaassen, Petra W.J., Swillen, Ann, Gothelf, Doron, Green, Tamar, Weizman, Abraham, Van Amelsvoort, Therese, Evers, Laurens, Boot, Erik, Shashi, Vandana, Hooper, Stephen R., Bearden, Carrie E., Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Murphy, Declan G., Ousley, Opal, Campbell, Linda E., Simon, Tony J., Eliez, Stephan

“…ObjectiveChromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The…”
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Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications by Butcher, Nancy J, Kiehl, Tim-Rasmus, Hazrati, Lili-Naz, Chow, Eva W C, Rogaeva, Ekaterina, Lang, Anthony E, Bassett, Anne S

“…Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome…”
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Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome by Bassett, Anne S., Marshall, Christian R., Lionel, Anath C., Chow, Eva W.C., Scherer, Stephen W.

“…22q11.2 Deletion Syndrome (22q11.2DS) is a common microdeletion syndrome with congenital and late-onset features. Testing for the genomic content of copy…”
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All-cause mortality and survival in adults with 22q11.2 deletion syndrome by Van, Lily, Heung, Tracy, Graffi, Justin, Ng, Enoch, Malecki, Sarah, Van Mil, Spencer, Boot, Erik, Corral, Maria, Chow, Eva W. C., Hodgkinson, Kathleen A., Silversides, Candice, Bassett, Anne S.

“…Purpose Given limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this…”
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Obesity in adults with 22q11.2 deletion syndrome by Voll, Sarah L., Boot, Erik, Butcher, Nancy J., Cooper, Samantha, Heung, Tracy, Chow, Eva W.C., Silversides, Candice K., Bassett, Anne S.

“…To characterize the prevalence of and contributing factors to adult obesity in the most common recurrent copy-number variation (CNV), 22q11.2 deletion, given…”
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Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion by Vorstman, Jacob A.S, Breetvelt, Elemi J, Thode, Kirstin I, Chow, Eva W.C, Bassett, Anne S

“…Abstract Background Copy number variants (CNVs) associated with neuropsychiatric disorders are increasingly being identified. While the initial reports were…”
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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia by Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.

“…Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare…”
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Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome by Cheung, Evelyn Ning Man, George, Susan R., Costain, Gary A., Andrade, Danielle M., Chow, Eva W. C., Silversides, Candice K., Bassett, Anne S.

“…Summary Background 22q11·2 deletion syndrome (22q11·2DS) is a relatively common yet under‐recognized genetic syndrome that may present with endocrine features…”
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Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays by Costain, Gregory, Lionel, Anath C, Merico, Daniele, Forsythe, Pamela, Russell, Kathryn, Lowther, Chelsea, Yuen, Tracy, Husted, Janice, Stavropoulos, Dimitri J, Speevak, Marsha, Chow, Eva W C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S

“…Individually rare, large copy number variants (CNVs) contribute to genetic vulnerability for schizophrenia. Unresolved questions remain, however, regarding the…”
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Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome by Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.

“…The 22q11.2 deletion syndrome (22q11DS; velocardiofacial /DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic…”
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Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome by Cheung, Evelyn Ning Man, George, Susan R., Andrade, Danielle M., Chow, Eva W.C., Silversides, Candice K., Bassett, Anne S.

“…Purpose: Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized…”
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Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome by Palmer, Lisa D., Butcher, Nancy J., Boot, Erik, Hodgkinson, Kathleen A., Heung, Tracy, Chow, Eva W. C., Guna, Alina, Crowley, T. Blaine, Zackai, Elaine, McDonald‐McGinn, Donna M., Bassett, Anne S.

“…Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under‐recognition and diagnostic delays are…”
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Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome by Vorstman, Jacob A S, Breetvelt, Elemi J, Duijff, Sasja N, Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R, Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J, Young, Donald A, McDonald-McGinn, Donna M, Vogels, Annick, van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R, Antshel, Kevin M, Simon, Tony J, Ousley, Opal Y, Swillen, Ann, Gur, Raquel E, Bearden, Carrie E, Kahn, René S, Bassett, Anne S

“…Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of…”
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Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia by Lin, Jhih-Rong, Zhao, Yingjie, Jabalameli, M. Reza, Nguyen, Nha, Mitra, Joydeep, Swillen, Ann, Vorstman, Jacob A. S., Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., Owen, Michael J., Williams, Nigel M., Bassett, Anne S., McDonald-McGinn, Donna M., Gur, Raquel E., Bearden, Carrie E., Morrow, Bernice E., Lachman, Herbert M., Zhang, Zhengdong D.

“…22q11.2 deletion is one of the strongest known genetic risk factors for schizophrenia. Recent whole-genome sequencing of schizophrenia cases and controls with…”
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Clinically detectable copy number variations in a Canadian catchment population of schizophrenia by Bassett, Anne S, Costain, Gregory, Alan Fung, Wai Lun, Russell, Kathryn J, Pierce, Laura, Kapadia, Ronak, Carter, Ronald F, Chow, Eva W.C, Forsythe, Pamela J

“…Abstract Copy number variation (CNV) is a highly topical area of research in schizophrenia, but the clinical relevance is uncertain and the translation to…”
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22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy by Wither, Robert G., Borlot, Felippe, MacDonald, Alex, Butcher, Nancy J., Chow, Eva W. C., Bassett, Anne S., Andrade, Danielle M.

“…Summary Objective Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and…”
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Schizophrenia and 22q11.2 deletion syndrome by Bassett, Anne S., Chow, Eva W.C.

“…22q11.2 deletion syndrome (22qDS) is a genetic syndrome associated with a chromosome 22q11.2 deletion and variable phenotypic expression that commonly includes…”
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A genetic model for multimorbidity in young adults by Malecki, Sarah L., Van Mil, Spencer, Graffi, Justin, Breetvelt, Elemi, Corral, Maria, Boot, Erik, Chow, Eva W. C., Sanches, Marcos, Verma, Amol A., Bassett, Anne S.

“…Purpose Multimorbidity is increasing in younger adults but is understudied in this population. We used 22q11.2 deletion syndrome (22q11.2DS) as a genetic model…”
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Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness by Ching, Christopher R.K, Gutman, Boris A, Sun, Daqiang, Villalon Reina, Julio, Ragothaman, Anjanibhargavi, Isaev, Dmitry, Zavaliangos-Petropulu, Artemis, Lin, Amy, Jonas, Rachel K, Kushan, Leila, Pacheco-Hansen, Laura, Vajdi, Ariana, Forsyth, Jennifer K, Jalbrzikowski, Maria, Bakker, Geor, van Amelsvoort, Therese, Antshel, Kevin M, Fremont, Wanda, Kates, Wendy R, Campbell, Linda E, McCabe, Kathryn L, Craig, Michael C, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Murphy, Kieran C, Fiksinski, Ania, Koops, Sanne, Vorstman, Jacob, Crowley, T. Blaine, Emanuel, Beverly S, Gur, Raquel E, McDonald-McGinn, Donna M, Roalf, David R, Ruparel, Kosha, Schmitt, J. Eric, Zackai, Elaine H, Durdle, Courtney A, Goodrich-Hunsaker, Naomi J, Simon, Tony J, Bassett, Anne S, Butcher, Nancy J, Chow, Eva W.C, Vila-Rodriguez, Fidel, Cunningham, Adam, Doherty, Joanne, Linden, David E, Moss, Hayley, Owen, Michael J, van den Bree, Marianne, Crossley, Nicolas A, Repetto, Gabriela M, Thompson, Paul M, Bearden, Carrie E

“…Objective:22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable…”
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