Developmental Trajectories of Brain Structure in Adolescents with 22q11.2 Deletion Syndrome: A Longitudinal Study

Por Gothelf, Doron, Penniman, Lauren, Gu, Eugene, Eliez, Stephan, Reiss, Allan L.
Publicado em 2007

Velo-Cardio-Facial Syndrome

Por Gothelf, Doron, Frisch, Amos, Michaelovsky, Elena, Weizman, Abraham, Shprintzen, Robert J.
Publicado em 2009

Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome

Por Gothelf, Doron, Hoeft, Fumiko, Ueno, Takefumi, Sugiura, Lisa, Lee, Agatha D., Thompson, Paul, Reiss, Allan L.
Publicado em 2011

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Por Schonherz, Yael, Davidov, Maayan, Knafo, Ariel, Zilkha, Hadas, Shoval, Gal, Zalsman, Gil, Frisch, Amos, Weizman, Abraham, Gothelf, Doron
Publicado em 2014

A tale worth telling: The impact of the diagnosis experience on disclosure of genetic disorders

Por Goodwin, Jane, Schoch, Kelly, Shashi, Vandana, Hooper, Stephen R., Gothelf, Doron, Zalevsky, Moran, Morad, Ola, Campbell, Linda E.
Publicado no J Intellect Disabil Res (2014)

Genotype-phenotype correlation in 22q11.2 deletion syndrome

Por Michaelovsky, Elena, Frisch, Amos, Carmel, Miri, Patya, Miriam, Zarchi, Omer, Green, Tamar, Basel-Vanagaite, Lina, Weizman, Abraham, Gothelf, Doron
Publicado em 2012

Association between Cerebral Shape and Social Use of Language in Williams Syndrome

Por Gothelf, Doron, Searcy, Yvonne M., Reilly, Judy, Lai, Philip, Lanre-Amos, Tope, Mills, Debra, Korenberg, Julie R, Galaburda, Albert, Bellugi, Ursula, Reiss, Allan L
Publicado em 2008

Biological Effects of COMT Haplotypes and Psychosis Risk in 22q11.2 Deletion Syndrome

Por Gothelf, Doron, Law, Amanda J., Frisch, Amos, Chen, Jingshan, Zarchi, Omer, Michaelovsky, Elena, Ren-Patterson, Renee, Lipska, Barbara K., Carmel, Miri, Kolachana, Bhaskar, Weizman, Abraham, Weinberger, Daniel R.
Publicado em 2013

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

Por Yi, James J., Weinberger, Ronnie, Moore, Tyler M., Calkins, Monica E., Guri, Yael, McDonald-McGinn, Donna M., Zackai, Elaine H., Emanuel, Beverly S., Gur, Raquel E., Gothelf, Doron, Gur, Ruben C.
Publicado no Brain Cogn (2016)

Neuroanatomy of Fragile X Syndrome Is Associated with Aberrant Behavior and the Fragile X Mental Retardation Protein (FMRP)

Por Gothelf, Doron, Furfaro, Joyce A., Hoeft, Fumiko, Eckert, Mark A., Hall, Scott S., O’Hara, Ruth, Erba, Heather W., Ringel, Jessica, Hayashi, Kiralee M., Patnaik, Swetapadma, Golianu, Brenda, Kraemer, Helena C., Thompson, Paul M., Piven, Joseph, Reiss, Allan L.
Publicado em 2008

Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

Por Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miquel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nürnberg, Peter, Gothelf, Doron, Kubisch, Christian, Shohat, Mordechai, Macaya, Alfons, Borck, Guntram
Publicado em 2013

SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System

Por Birk, Efrat, Har-Zahav, Adi, Manzini, Chiara M., Pasmanik-Chor, Metsada, Kornreich, Liora, Walsh, Christopher A., Noben-Trauth, Konrad, Albin, Adi, Simon, Amos J., Colleaux, Laurence, Morad, Yair, Rainshtein, Limor, Tischfield, David J., Wang, Peter, Magal, Nurit, Maya, Idit, Shoshani, Noa, Rechavi, Gideon, Gothelf, Doron, Maydan, Gal, Shohat, Mordechai, Basel-Vanagaite, Lina
Publicado em 2010

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Por Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nürnberg, Gudrun, Altmüller, Janine, Frommolt, Peter, Hofmann, Kay, Konen, Osnat, Nürnberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian, Basel-Vanagaite, Lina
Publicado em 2012

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Por Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., 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, Goldmuntz, Elizabeth, Bassett, Anne S., Morrow, Bernice E., Emanuel, Beverly S.
Publicado no Hum Genet (2016)

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Por 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.
Publicado no Am J Hum Genet (2015)

A cognitive decline precedes the onset of psychosis in patients with the 22q11.2 deletion syndrome

Por 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 WJ, 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.
Publicado no JAMA Psychiatry (2015)

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

Por 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
Publicado no Am J Psychiatry (2014)

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Por Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.
Publicado em 2013

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Por Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jalbrzikowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.
Publicado em 2013