Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Barbara Parrini"'
Publikováno v:
Routledge International Handbook of Therapeutic Stories and Storytelling ISBN: 9781003118893
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28ad88f51c742d1e2834ace04257d7ed
https://doi.org/10.4324/9781003118893-6
https://doi.org/10.4324/9781003118893-6
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :448-455
Idic(15) syndrome is a neurogenetic disorder clinically delineated by early central hypotonia, developmental delay and intellectual disability (ID), epilepsy, absent or very poor speech, and autistic or autistic-like behavior. It is due to the presen
Publikováno v:
American Journal of Medical Genetics Part A. :1200-1204
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 dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. The propo
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :252-256
As a subset of genetic abnormalities, subtelomeric deletions have been found in 7-10% of individuals with mental retardation (MR). One subtelomeric deletion, Wolf-Hirschhorn syndrome (WHS), causes mild to severe MR, but the cognitive-behavioral featu
Autor:
Naisha Shah, William M. McMahon, Barbara Parrini, Jeremy R. Parr, Thomas Bourgeron, Vanessa Hus, Gudrun Nygren, Sabine M. Klauck, John B. Vincent, Nadine M. Melhem, Jillian P. Casey, Christina Corsello, Jonathan L. Haines, Andrew D. Paterson, Raffaella Tancredi, Alistair T. Pagnamenta, Jonathan Green, Richard Delorme, Geraldine Dawson, Andrew Pickles, Carine Mantoulan, Alexander Kolevzon, Bridget A. Fernandez, Frederico Duque, Inês Sousa, Tara Paton, Kathryn Roeder, Joana Almeida, Richard Anney, Margaret A. Pericak-Vance, Joachim Hallmayer, Gerard D. Schellenberg, Sabata C. Lund, Rita M. Cantor, Daniel H. Geschwind, Janine A. Lamb, Annette Estes, Sven Bölte, Hakon Hakonarson, Gillian Hughes, Gillian Baird, John I. Nurnberger, Jessica Brian, Bernie Devlin, Roberta Igliozzi, Vera Stoppioni, Jiannis Ragoussis, Peter Szatmari, Ghazala Mirza, Eric Fombonne, Thomas H. Wassink, Emily L. Crawford, Nuala Sykes, Danielle Zurawiecki, Graham Kenny, David J. Posey, Elena Maestrini, Vlad Kustanovich, Elena Bacchelli, Veronica J. Vieland, Stephen W. Scherer, Guiomar Oliveira, Simon Wallace, John R. Gilbert, Latha Soorya, Sean Brennan, Tiago R. Magalhaes, Hilary Coon, Elizabeth A. Heron, Sabine Schlitt, Fritz Poustka, Astrid M. Vicente, Patrick Bolton, Linda Lotspeich, Nancy J. Minshew, Val C. Sheffield, Bennett L. Leventhal, Xiao-Qing Liu, Andrew Green, Joseph D. Buxbaum, Shawn Wood, Susan E. Folstein, Sean Ennis, Catarina Correia, James S. Sutcliffe, Carolyn Noakes, Ann Le Couteur, Marion Leboyer, Ann P. Thompson, Christine M. Freitag, Fred R. Volkmar, Katerina Papanikolaou, Dalila Pinto, Agatino Battaglia, Frances Lombard, Joseph Piven, Maretha de Jonge, Michael Rutter, Clara Lajonchere, Kerstin Wittemeyer, Herman van Engeland, Michael L. Cuccaro, Richard Holt, Lonnie Zwaigenbaum, Louise Gallagher, Jeff Munson, Ana Tryfon, John Tsiantis, Lambertus Klei, Christopher Gillberg, Penny Farrar, Joseph T. Glessner, Ellen M. Wijsman, Anthony P. Monaco, Wendy Roberts, Nadia Bolshakova, Cecilia Kim, Judith Miller, Stephen J. Guter, Susanne Thomson, Catherine Lord, Anthony J. Bailey, Miriam Law-Smith, Michael Gill, Christopher J. McDougle, Bernadette Rogé, Alison K. Merikangas, Jacob A. S. Vorstman, Suma Jacob, Judith Conroy, Kirsty Wing, Regina Regan, Jennifer L. Howe, Stanley F. Nelson, Edwin H. Cook, Catalina Betancur, Eftichia Duketis
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Human Molecular Genetics, 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Human Molecular Genetics, 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
International audience; 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 variation to the risk of developing ASD is less clear. To produce
Autor:
Veronica J. Vieland, Stephen W. Scherer, Elizabeth A. Heron, Barbara Parrini, Jeremy R. Parr, Louise Gallagher, Jeff Munson, Annemarie Poustka, Susan E. Folstein, Irene Drmic, Gudrun Nygren, John P. Rice, Jeff Salt, Simon Wallace, Geraldine Dawson, Daniel H. Geschwind, Annette Estes, Sean Brennan, Alistair T. Pagnamenta, Nancy J. Minshew, Christina Corsello, Jonathan Green, William M. McMahon, Christopher Gillberg, Kathryn Roeder, Lambertus Klei, Anath C. Lionel, Bridget A. Fernandez, Thomas Bourgeron, Ellen M. Wijsman, Gerard D. Schellenberg, Wendy Roberts, Jeremy Goldberg, Frederico Duque, Ghazala Mirza, Sean Ennis, Joana Almeida, Nadine M. Melhem, Jillian P. Casey, Roberta Igliozzi, Ricardo Segurado, Carine Mantoulan, Katy Renshaw, Kai Wang, Andrew D. Paterson, Raffaella Tancredi, Matthew Nicholas Hill, Richard Anney, Christian R. Marshall, Anthony P. Monaco, Linda Lotspeich, Marion Leboyer, Richard Holt, Andrew Pickles, Vlad Kustanovich, William M. Mahoney, Jessica Brian, Inês Sousa, Peter Szatmari, Vanessa Hus, Janine A. Lamb, Hakon Hakonarson, Lonnie Zwaigenbaum, John Tsiantis, David J. Posey, Olena Korvatska, Guillermo Casallo, Rita M. Cantor, Bhooma Thiruvahindrapduram, Nadia Bolshakova, Sven Bölte, Alison K. Merikangas, Brian L. Yaspan, Cecilia Kim, Andrew Crossett, Fritz Poustka, Danielle Zurawiecki, Agatino Battaglia, Sabata C. Lund, Ann P. Thompson, Bennett L. Leventhal, Jessica Rickaby, Zhouzhi Wang, John I. Nurnberger, Astrid M. Vicente, Maretha de Jonge, Tiago R. Magalhaes, Michael L. Cuccaro, Val C. Sheffield, Nuala Sykes, Elena Maestrini, Guiomar Oliveira, Joseph D. Buxbaum, Fred R. Volkmar, Shawn Wood, Magdalena Laskawiec, Katherine Sansom, Herman van Engeland, Jane McGrath, Thomas H. Wassink, Su H. Chu, Elena Bacchelli, Carolyn Noakes, Ann Le Couteur, Catarina Correia, Ohsuke Migita, Bernie Devlin, Hilary Coon, Gillian Baird, Joseph Piven, Tom Berney, Ana Tryfon, Abdul Noor, Patrick Bolton, Latha Soorya, Vera Stoppioni, Stephen J. Guter, Joseph T. Glessner, Michael Gill, Christopher J. McDougle, Anthony J. Bailey, Margaret A. Pericak-Vance, Joachim Hallmayer, Christine M. Freitag, Penny Farrar, Kirsty Wing, Katherine E. Tansey, Bernadette Rogé, Michael Rutter, Christina Strawbridge, Brett S. Abrahams, Kerstin Wittemeyer, Laura J. Bierut, Tara Paton, Emily L. Crawford, Jonathan L. Haines, Alexander Kolevzon, Gillian Hughes, Lili Senman, James S. Sutcliffe, John B. Gilbert, Katerina Papanikolaou, Andrew R. Carson, Lynne E Cochrane, Regina Regan, Judith Miller, Susanne Thomson, Helen McConachie, Daisuke Sato, Richard Delorme, Jiannis Ragoussis, Eric Fombonne, Clara Lajonchere, Judith Conroy, Dalila Pinto, Aparna Prasad, Naisha Shah, Stanley F. Nelson, Sabine M. Klauck, Catalina Betancur, John B. Vincent, Eftichia Duketis, Jennifer L. Howe, Edwin H. Cook, Xiao-Qing Liu, Catherine Lord
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
Anney, R, Klei, L, Pinto, D, Regan, R, Conroy, J, Magalhaes, T R, Correia, C, Abrahams, B S, Sykes, N, Pagnamenta, A T, Almeida, J, Bacchelli, E, Bailey, A J, Baird, G, Battaglia, A, Berney, T, Bolshakova, N, Boelte, S, Bolton, P F, Bourgeron, T, Brennan, S, Brian, J, Carson, A R, Casallo, G, Casey, J, Chu, S H, Cochrane, L, Corsello, C, Crawford, E L, Crossett, A, Dawson, G, de Jonge, M, Delorme, R, Drmic, I, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B A, Folstein, S E, Fombonne, E, Freitag, C M, Gilbert, J, Gillberg, C, Glessner, J T, Goldberg, J, Green, J, Guter, S J, Hakonarson, H, Heron, E A, Hill, M, Holt, R, Howe, J L, Hughes, G, Hus, V, Igliozzi, R, Kim, C, Klauck, S M, Kolevzon, A, Korvatska, O, Kustanovich, V, Lajonchere, C M, Lamb, J A, Laskawiec, M, Leboyer, M, Le Couteur, A, Leventhal, B L, Lionel, A C, Liu, X-Q, Lord, C, Lotspeich, L, Lund, S C, Maestrini, E, Mahoney, W, Mantoulan, C, Marshall, C R, McConachie, H, McDougle, C J, McGrath, J, McMahon, W M, Melhem, N M, Merikangas, A, Migita, O, Minshew, N J, Mirza, G K, Munson, J, Nelson, S F, Noakes, C, Noor, A, Nygren, G, Oliveira, G, Papanikolaou, K, Parr, J R, Parrini, B, Paton, T, Pickles, A, Piven, J, osey, D J, Poustka, A, Poustka, F, Prasad, A, Ragoussis, J, Renshaw, K, Rickaby, J, Roberts, W, Roeder, K, Roge, B, Rutter, M L, Bierut, L J, Rice, J P, Salt, J, Sansom, K, Sato, D, Segurado, R, Senman, L, Shah, N, Sheffield, V C, Soorya, L, Sousa, I, Stoppioni, V, Strawbridge, C, Tancredi, R, Tansey, K, Thiruvahindrapduram, B, Thompson, A P, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J B, Volkmar, F, Wallace, S, Wang, K, Wang, Z, Wassink, T H, Wing, K, Wittemeyer, K, Wood, S, Yaspan, B L, Zurawiecki, D, Zwaigenbaum, L, Betancur, C, Buxbaum, J D, Cantor, R M, Cook, E H, Coon, H, Cuccaro, M L, Gallagher, L, Geschwind, D H, Gill, M, Haines, J L, Miller, J, Monaco, A P, Nurnberger, J I, Paterson, A D, Pericak-Vance, M A, Schellenberg, G D, Scherer, S W, Sutcliffe, J S, Szatmari, P, Vicente, A M, Vieland, V J, Wijsman, E M, Devlin, B, Ennis, S & Hallmayer, J 2010, ' A genome-wide scan for common alleles affecting risk for autism ', Human Molecular Genetics, vol. 19, no. 20, ddq307, pp. 4072-4082 . https://doi.org/10.1093/hmg/ddq307
Human Molecular Genetics, 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
Anney, R, Klei, L, Pinto, D, Regan, R, Conroy, J, Magalhaes, T R, Correia, C, Abrahams, B S, Sykes, N, Pagnamenta, A T, Almeida, J, Bacchelli, E, Bailey, A J, Baird, G, Battaglia, A, Berney, T, Bolshakova, N, Boelte, S, Bolton, P F, Bourgeron, T, Brennan, S, Brian, J, Carson, A R, Casallo, G, Casey, J, Chu, S H, Cochrane, L, Corsello, C, Crawford, E L, Crossett, A, Dawson, G, de Jonge, M, Delorme, R, Drmic, I, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B A, Folstein, S E, Fombonne, E, Freitag, C M, Gilbert, J, Gillberg, C, Glessner, J T, Goldberg, J, Green, J, Guter, S J, Hakonarson, H, Heron, E A, Hill, M, Holt, R, Howe, J L, Hughes, G, Hus, V, Igliozzi, R, Kim, C, Klauck, S M, Kolevzon, A, Korvatska, O, Kustanovich, V, Lajonchere, C M, Lamb, J A, Laskawiec, M, Leboyer, M, Le Couteur, A, Leventhal, B L, Lionel, A C, Liu, X-Q, Lord, C, Lotspeich, L, Lund, S C, Maestrini, E, Mahoney, W, Mantoulan, C, Marshall, C R, McConachie, H, McDougle, C J, McGrath, J, McMahon, W M, Melhem, N M, Merikangas, A, Migita, O, Minshew, N J, Mirza, G K, Munson, J, Nelson, S F, Noakes, C, Noor, A, Nygren, G, Oliveira, G, Papanikolaou, K, Parr, J R, Parrini, B, Paton, T, Pickles, A, Piven, J, osey, D J, Poustka, A, Poustka, F, Prasad, A, Ragoussis, J, Renshaw, K, Rickaby, J, Roberts, W, Roeder, K, Roge, B, Rutter, M L, Bierut, L J, Rice, J P, Salt, J, Sansom, K, Sato, D, Segurado, R, Senman, L, Shah, N, Sheffield, V C, Soorya, L, Sousa, I, Stoppioni, V, Strawbridge, C, Tancredi, R, Tansey, K, Thiruvahindrapduram, B, Thompson, A P, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J B, Volkmar, F, Wallace, S, Wang, K, Wang, Z, Wassink, T H, Wing, K, Wittemeyer, K, Wood, S, Yaspan, B L, Zurawiecki, D, Zwaigenbaum, L, Betancur, C, Buxbaum, J D, Cantor, R M, Cook, E H, Coon, H, Cuccaro, M L, Gallagher, L, Geschwind, D H, Gill, M, Haines, J L, Miller, J, Monaco, A P, Nurnberger, J I, Paterson, A D, Pericak-Vance, M A, Schellenberg, G D, Scherer, S W, Sutcliffe, J S, Szatmari, P, Vicente, A M, Vieland, V J, Wijsman, E M, Devlin, B, Ennis, S & Hallmayer, J 2010, ' A genome-wide scan for common alleles affecting risk for autism ', Human Molecular Genetics, vol. 19, no. 20, ddq307, pp. 4072-4082 . https://doi.org/10.1093/hmg/ddq307
Human Molecular Genetics, 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db05e54c82d3c414b0cd5e330ddecd2
https://www.hal.inserm.fr/inserm-00521391
https://www.hal.inserm.fr/inserm-00521391
Autor:
Francesca, Tinelli, Caterina, Costagli, Stefania, Bargagna, Mara, Marcheschi, Barbara, Parrini, Valentina, Perelli
Publikováno v:
Functional neurology. 18(3)
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 hypothyroidism (CH) subjects (12 children and 18 adolescents) compared with a control group o
Autor:
Veronica J. Vieland, Stephen W. Scherer, Alison K. Merikangas, Naisha Shah, Edwin H. Cook, William M. McMahon, Kirsty Wing, Sabata C. Lund, Jacob A. S. Vorstman, Judith Conroy, Sabine M. Klauck, John B. Vincent, Astrid M. Vicente, Carine Mantoulan, Barbara Parrini, Jeremy R. Parr, Herman van Engeland, Jane McGrath, Guiomar Oliveira, Jonathan Green, James S. Sutcliffe, Peter Szatmari, Ann Le Couteur, Katerina Papanikolaou, Joseph Piven, Andrew Pickles, Gillian Baird, Inês Sousa, Gerard D. Schellenberg, Catarina Correia, Bennett L. Leventhal, Helen McConachie, Joseph T. Glessner, Fritz Poustka, Alistair T. Pagnamenta, Marion Leboyer, Nuala Sykes, Elena Maestrini, Penny Farrar, Maïté Tauber, Suzanne Foley, Richard Holt, Lonnie Zwaigenbaum, David J. Posey, John Tsiantis, Alexander Kolevzon, Agatino Battaglia, Maretha de Jonge, Hilary Coon, Gillian Hughes, John R. Gilbert, Patrick Bolton, Louise Gallagher, Jeff Munson, Kathy White, Michael L. Cuccaro, Annemarie Poustka, Daniel H. Geschwind, Richard Delorme, Annette Estes, Christine M. Freitag, Jillian P. Casey, Joana Almeida, Dalila Pinto, Simon Wallace, Sean Brennan, Stephen J. Guter, Stanley F. Nelson, Michael Rutter, Ghazala Mirza, Anthony J. Bailey, Christina Corsello, Kerstin Wittemeyer, Christian R. Marshall, Janine A. Lamb, Catherine Lord, Hakon Hakonarson, Jiannis Ragoussis, Catalina Betancur, Geraldine Dawson, Eftichia Duketis, Sean Ennis, Fiorella Minopoli, Christopher Gillberg, Vera Stoppioni, Bridget A. Fernandez, Frederico Duque, Eric Fombonne, Ellen M. Wijsman, Bernadette Rogé, Vanessa Hus, Susan E. Folstein, Jonathan L. Haines, Denis C. Shields, Tiago R. Magalhaes, Andrew Green, Thomas Bourgeron, Brian L. Yaspan, Ann P. Thompson, Gudrun Nygren, Judith Miller, Susanne Thomson, Roberta Igliozzi, Ana Filipa Sequeira, Kai Wang, Brett S. Abrahams, John I. Nurnberger, Michael Gill, Thomas H. Wassink, Christopher J. McDougle, Marc N. Coutanche, Anthony P. Monaco, Nadia Bolshakova, Cecilia Kim, Raffaella Tancredi, Rita M. Cantor, Phil Cali, Fred R. Volkmar, Tom Berney, Margaret A. Pericak-Vance, Joachim Hallmayer, Joseph D. Buxbaum, Elena Bacchelli, Latha Soorya, Richard Anney, Regina Regan
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Human Genetics, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Human Genetics, Springer Verlag, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Human Genetics, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social r