Search Results - "Parrini, Barbara"

The behavioral phenotype of the idic(15) syndrome by Battaglia, Agatino, Parrini, Barbara, Tancredi, Raffaella

“…Idic(15) syndrome is a neurogenetic disorder clinically delineated by early central hypotonia, developmental delay and intellectual disability (ID), epilepsy,…”
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Further characterization of the new microdeletion syndrome of 16p11.2-p12.2 by Battaglia, Agatino, Novelli, Antonio, Bernardini, Laura, Igliozzi, Roberta, Parrini, Barbara

“…Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2–p12.2 in a patient with developmental delay (DD) and…”
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Functional impact of global rare copy number variation in autism spectrum disorders by Gillberg, Christopher, Kolevzon, Alexander, Nelson, Stanley F, Sansom, Katherine, Casallo, Guillermo, Miller, Judith, Brennan, Sean, Leboyer, Marion, Bacchelli, Elena, Delorme, Richard, Fombonne, Eric, Hallmayer, Joachim, Green, Jonathan, Pickles, Andrew, Heron, Elizabeth A, Salt, Jeff, Battaglia, Agatino, Klauck, Sabine M, McDougle, Christopher J, Mahoney, William, Noor, Abdul, Cytrynbaum, Cheryl, Sato, Daisuke, Almeida, Joana, Korvatska, Olena, Dawson, Geraldine, Bierut, Laura J, Coon, Hilary, Rickaby, Jessica, Freitag, Christine M, Roeder, Kathryn, Bader, Gary D, Wijsman, Ellen M, Vincent, John B, Hakonarson, Hakon, Segurado, Ricardo, Paton, Tara, Roge, Bernadette, Ennis, Sean, Kim, Cecilia, Monaco, Anthony P, Paterson, Andrew D, Crossett, Andrew, McGrath, Jane, Carson, Andrew R, Le Couteur, Ann, Cook, Edwin H, Chung, Brian H.Y, Cuccaro, Michael L, Van Engeland, Herman, Conroy, Judith, Holt, Richard, Strawbridge, Christina, Kustanovich, Vlad, Migita, Ohsuke, Stoppioni, Vera, Igliozzi, Roberta, Poustka, Fritz, Stein, Olaf, Posey, David J, Sheffield, Val C, Duque, Frederico, Parrini, Barbara, Berney, Tom, Hus, Vanessa, Baird, Gillian, Duketis, Eftichia, Soorya, Latha, Corsello, Christina, Drmic, Irene, Sousa, Inês, Abrahams, Brett S, Thomson, Susanne, Lajonchere, Clara M, Tsiantis, John, Pinto, Dalila, Green, Andrew, Hughes, Gillian, Mantoulan, Carine, Betancur, Catalina, Volkmar, Fred, Poustka, Annemarie, Shah, Naisha, Bryson, Susan E, Munson, Jeff, Tancredi, Raffaella, Nygren, Gudrun, Wittemeyer, Kerstin, Merikangas, Alison, Oliveira, Guiomar, Farrar, Penny, Maestrini, Elena, Liu, Xiao-Qing, Gallagher, Louise, McConachie, Helen, Zurawiecki, Danielle, Schellenberg, Gerard D, Glessner, Joseph T, Lord, Catherine, Piven, Joseph

“…The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the…”
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Individual common variants exert weak effects on the risk for autism spectrum disorders by Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, J A S, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Bailey, Anthony J

“…While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common…”
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Individual common variants exert weak effects on the risk for autism spectrum disorderspi by ANNEY, Richard, KLEI, Lambertus, BRENNAN, Sean, BRIAN, Jessica, CASEY, Jillian, CONROY, Judith, CORREIA, Catarina, CORSELLO, Christina, CRAWFORD, Emily L, DE JONGE, Maretha, DELORME, Richard, DUKETIS, Eftichia, PINTO, Dalila, DUQUE, Frederico, ESTES, Annette, FARRAR, Penny, FERNANDEZ, Bridget A, FOLSTEIN, Susan E, FOMBONNE, Eric, GILBERT, John, GILLBERG, Christopher, GLESSNER, Joseph T, GREEN, Andrew, ALMEIDA, Joana, GREEN, Jonathan, GUTER, Stephen J, HERON, Elizabeth A, HOLT, Richard, HOWE, Jennifer L, HUGHES, Gillian, HUS, Vanessa, IGLIOZZI, Roberta, JACOB, Suma, KENNY, Graham P, BACCHELLI, Elena, KIM, Cecilia, KOLEVZON, Alexander, KUSTANOVICH, Vlad, LAJONCHERE, Clara M, LAMB, Janine A, LAW-SMITH, Miriam, LEBOYER, Marion, LE COUTEUR, Ann, LEVENTHAL, Bennett L, LIU, Xiao-Qing, BAIRD, Gillian, LOMBARD, Frances, LORD, Catherine, LOTSPEICH, Linda, LUND, Sabata C, MAGALHAES, Tiago R, MANTOULAN, Carine, MCDOUGLE, Christopher J, MELHEM, Nadine M, MERIKANGAS, Alison, MINSHEW, Nancy J, BOLSHAKOVA, Nadia, BÖLTE, Sven, BOLTON, Patrick F, BOURGERON, Thomas

“…While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common…”
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder by Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Almeida, Joana, Bacchelli, Elena, Battaglia, Agatino, Berney, Tom, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Holt, Richard, Hus, Vanessa, Klauck, Sabine M., Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McMahon, William M., Merikangas, Alison, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Rutter, Michael L., Soorya, Latha, Sousa, Inês, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Monaco, Anthony P., Nurnberger, John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Sutcliffe, James S., Szatmari, Peter, Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, Ennis, Sean

“…Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive…”
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A genome-wide scan for common alleles affecting risk for autism by Pinto, Dalila, Regan, Regina, Magalhaes, Tiago R., Abrahams, Brett S., Pagnamenta, Alistair T., Almeida, Joana, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Brennan, Sean, Carson, Andrew R., Casallo, Guillermo, Chu, Su H., Cochrane, Lynne, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Fernandez, Bridget A., Fombonne, Eric, Freitag, Christine M., Glessner, Joseph T., Goldberg, Jeremy, Green, Jonathan, Heron, Elizabeth A., Holt, Richard, Hughes, Gillian, Hus, Vanessa, Kim, Cecilia, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Leboyer, Marion, Leventhal, Bennett L., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Marshall, Christian R., McConachie, Helen, McMahon, William M., Melhem, Nadine M., Merikangas, Alison, Migita, Ohsuke, Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Papanikolaou, Katerina, Parr, Jeremy R., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roge, Bernadette, Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Stoppioni, Vera, Tancredi, Raffaella, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Van Engeland, Herman, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Wittemeyer, Kerstin, Wood, Shawn, Yaspan, Brian L., Zurawiecki, Danielle, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Paterson, Andrew D., Sutcliffe, James S., Szatmari, Peter, Vicente, Astrid M., Wijsman, Ellen M., Devlin, Bernie, Hallmayer, Joachim

“…Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy…”
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The Behavioral Phenotype of the Idic(15) Syndrome: Behavioral Phenotypes in Neurogenetic Syndromes by BATTAGLIA, Agatino, PARRINI, Barbara, TANCREDI, Raffaella

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Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders by ANNEY, Richard Jl, KENNY, Elaine M, O'DUSHLAINE, Colm, YASPAN, Brian L, PARKHOMENKA, Elena, GENOME PROJECT, The Autism, BUXBAUM, Joseph D, SUTCLIFFE, James, GILL, Michael, GALLAGHER, Louise

“…Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite…”
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Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: Preliminary report of 12 cases by Fisch, Gene S., Battaglia, Agatino, Parrini, Barbara, Youngblom, Janey, Simensen, Richard

“…As a subset of genetic abnormalities, subtelomeric deletions have been found in 7–10% of individuals with mental retardation (MR). One subtelomeric deletion,…”
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Cognitive-Behavioral Features of Children With Wolf-Hirschhorn Syndrome : Preliminary Report of 12 Cases: Wolf-Hirschhorn Syndrome and the 4p-Related Syndromes by FISCH, Gene S, BATTAGLIA, Agatino, PARRINI, Barbara, YOUNGBLOM, Janey, SIMENSEN, Richard

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Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder by Pinto, Dalila, Pagnamenta, Alistair T., Klei, Lambertus, Anney, Richard, Merico, Daniele, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bader, Gary D., Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Bryson, Susan E., Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Filipa, Ana, Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Piven, Joseph

“…The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the…”
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Behavioural disorders in adolescents with early-treated congenital hypothyroidism by Tinelli, Francesca, Costagli, Caterina, Bargagna, Stefania, Marcheschi, Mara, Parrini, Barbara, Perelli, Valentina

“…This study analyses the possible risk factors for the on-set of behavioural disorders and psychiatric disturbances in a group of 30 early-treated congenital…”
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