Dexter Hadley, Zhi-liang Wu, Charlly Kao, Akshata Kini, Alisha Mohamed-Hadley, Kelly Thomas, Lyam Vazquez, Haijun Qiu, Frank Mentch, Renata Pellegrino, Cecilia Kim, John J. Connolly, Dalila Pinto, Alison Merikangas, Lambertus Klei, Jacob Vorstman, Ann Thompson, Regina Regan, Alistair T. Pagnamenta, Bárbara Oliveira, Tiago R. Magalhães, John R. Gilbert, Eftichia Duketis, Maretha Jonge, Michael L. Cuccaro, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Simon Wallace, Hermán van Engeland, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Suma Jacob, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, Joana Almeida, Cátia Café, Susana Mouga, Catarina Correia, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W. Scherer, Joseph Glessner, Hákon Hákonarson,
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2014 - Nature Portfolio | Nature Communications
Marc Miravitlles, Alice Turner, María Torres‐Durán, Hanan Tanash, Carlota Rodríguez‐García, José Luís López-Campos, J Chlumský, Catarina Guimarães, Juan Luis Rodríguez Hermosa, Angelo Guido Corsico, Cristina Martínez González, José María Hernández Pérez, Ana Bustamante, David Parr, Francisco Maldonado, Ana Hečimović, Wim Janssens, Beatriz Lara, Míriam Barrecheguren, Cruz González, Jan Stolk, Cristina Esquinas, Christian F. Clarenbach,
Abstract Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. Methods The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor ...
Tópico(s): Pulmonary Hypertension Research and Treatments
2022 - BioMed Central | Respiratory Research
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhães, Jennifer K. Lowe, Jennifer Howe, Anthony J. Griswold, John R. Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha Jonge, Michael L. Cuccaro, Emily L. Crawford, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Hermán van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Patricia González, Suma Jacob, Richard Holt, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Pauline Chaste, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W. Scherer,
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2014 - Elsevier BV | The American Journal of Human Genetics
Malcolm Langford, Inga T. Winkler,
... well as Guy Hutton, Rifat Hossain, Sakiko Fukuda-Parr, the participants at the "Power of Numbers" workshop ... Human Right to Safe Drinking Water and Sanitation, Catarina de Albuquerque. Inga lectures regularly on economic, social ...
Tópico(s): Child Nutrition and Water Access
2014 - Taylor & Francis | Journal of Human Development and Capabilities
Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian P. Casey, Brian Hon‐Yin Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Anath C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge, Joseph Piven, Chris P. Ponting, David J. Posey, Annemarie Poustka, Fritz Poustka, Aparna Prasad, Jiannis Ragoussis, Katy Renshaw, Jessica Rickaby, Wendy Roberts, Kathryn Roeder, Bernadette Rogé, Michael Rutter, Laura J. Bierut, John P. Rice, Jeff Salt, Katherine Sansom, Daisuke Sato, Ricardo Segurado, Ana Filipa Sequeira, Lili Senman, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Olaf Stein, Nuala Sykes, Vera Stoppioni, Christina P. Strawbridge, Raffaella Tancredi, Katherine E. Tansey, Bhooma Thiruvahindrapduram, Ann Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Hermán van Engeland, John B. Vincent, Fred R. Volkmar, Simon Wallace, Kai Wang, Zhouzhi Wang, Thomas H. Wassink, Caleb Webber, Rosanna Weksberg, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Jing Qin Wu, Brian L. Yaspan, Danielle Zurawiecki, Lonnie Zwaigenbaum, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Bernie Devlin, Sean Ennis, Louise Gallagher, Daniel H. Geschwind, Michael Gill, Jonathan L. Haines, Joachim Hallmayer, Judith Miller, Anthony P. Monaco, John I. Nürnberger, Andrew D. Paterson, Margaret A. Pericak‐Vance, Gerard D. Schellenberg, Peter Szatmari, Astrid M. Vicente, Veronica J. Vieland, Ellen M. Wijsman, Stephen W. Scherer, James S. Sutcliffe, Catalina Betancur,
The autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs are highly heritable, yet the underlying genetic determinants remain largely unknown. A genome-wide analysis reveals that people with ASDs carry a higher load of rare copy-number variants — segments of DNA for which the copy number differs between individual genomes — which are either inherited or ...
Tópico(s): Congenital heart defects research
2010 - Nature Portfolio | Nature
Lauren A. Weiss, Dan E. Arking, Mark J. Daly, Aravinda Chakravarti, Camille W. Brune, Kristen M. West, Ashley O’Connor, Gina M. Hilton, R Tomlinson, Andrew B. West, Edwin H. Cook, Todd Green, Shun-Chiao Chang, Stacey B. Gabriel, Casey Gates, Ellen Hanson, Andrew Kirby, Joshua M. Korn, Finny G. Kuruvilla, Steven McCarroll, Eric M. Morrow, Benjamin M. Neale, Shaun Purcell, Roksana Sasanfar, Carrie Sougnez, Christine Stevens, David Altshuler, James F. Gusella, Susan L. Santangelo, Pamela Sklar, Rudolph E. Tanzi, Richard Anney, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Catalina Betancur, Sven Bölte, Patrick Bolton, Jessica Brian, Susan E. Bryson, Joseph D. Buxbaum, Ines Cabrito, Guiqing Cai, Rita M. Cantor, Hilary Coon, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Michael L. Cuccaro, Géraldine Dawson, Maretha Jonge, Bernie Devlin, Eftichia Duketis, Sean Ennis, Annette Estes, Penny Farrar, Éric Fombonne, Christine M. Freitag, Louise Gallagher, Daniel H. Geschwind, John R. Gilbert, Michael Gill, Christopher Gillberg, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Jonathan L. Haines, Joachim Hallmayer, Vanessa Hus, Sabine M. Klauck, Olena Korvatska, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventha, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Elena Maestrini, Tiago R. Magalhães, William J. Mahoney, Carine Mantoulan, Helen McConachie, Christopher J. McDougle, William M. McMahon, Christian R. Marshall, Judith Miller, Nancy J. Minshew, Anthony P. Monaco, Jeff Munson, John I. Nürnberger, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Andrew D. Paterson, Margaret A. Pericak‐Vance, Andrew Pickles, Dalila Pinto, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka, Regina Regan, Jennifer Reichert, Katy Renshaw, Wendy Roberts, Bernadette Rogé, Michael Rutter, Jeff Salt, Daniela Berg, Stephen W. Scherer, Val C. Sheffield, James S. Sutcliffe, Peter Szatmari, Katherine E. Tansey, Ann Thompson, John Tsiantis, Hermán van Engeland, Astrid M. Vicente, Veronica J. Vieland, Fred Volkmar, Simon Wallace, Thomas H. Wassink, Ellen M. Wijsman, Kirsty Wing, Kerstin Wittemeyer, Brian L. Yaspan, Lonnie Zwaigenbaum, Seung Yun Yoo, Robert Hill, Nahit Motavallı Mukaddes, Soher Balkhy, Generoso G. Gascon, Samira Al-Saad, Asif Hashmi, Janice Ware, Robert M. Joseph, Elaine LeClair, Jennifer N. Partlow, Brenda J. Barry, Christopher A. Walsh, David Pauls, Irma Moilanen, Hanna Ebeling, Marja Leena Mattila, Sanna Kuusikko, Katja Jussila, Jaakko Ignatius, Ala Tolouei, Majid Ghadami, Maryam Rostami, Azam Hosseinipour, Maryam Valujerdi, Kara Andresen, Brian Winkloski, Stephen A. Haddad, Lou Kunkel, Zak Kohane, Tram Bao Tran, Sek Won Kong, Stephanie Brewster O'Neil, Rachel J. Hundley, Ingrid A. Holm, Heather Peters, Elizabeth Baroni, Aislyn Cangialose, Lindsay Jackson, Lisa Albers, Ronald E. Becker, Carolyn Bridgemohan, Sandra Friedman, Kerim Münir, Ramzi Nazir, Judith S. Palfrey, Alison Schonwald, Esau Simmons, Leonard Rappaport, Julie Gauthier, Laurent Mottron, Ridha Joober, Guy A. Rouleau, Karola Rehnström, Lennart von Wendt, Leena Peltonen,
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2009 - Nature Portfolio | Nature
Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Jillian P. Casey, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Andrew Green, Jonathan Green, Stephen J. Guter, Elizabeth A. Heron, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Suma Jacob, Graham P. Kenny, Cecilia Kim, Alexander Kolevzon, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Miriam Law-Smith, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Xiaoqing Liu, Frances Lombard, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Tiago R. Magalhães, Carine Mantoulan, Christopher J. McDougle, Nadine Melhem, Alison Merikangas, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Carolyn Noakes, Gudrun Nygren, Κaterina Papanikolaou, Alistair T. Pagnamenta, Barbara Parrini, Tara Paton, Andrew Pickles, David J. Posey, Fritz Poustka, Jiannis Ragoussis, Regina Regan, Wendy Roberts, Kathryn Roeder, Bernadette Rogé, Michael Rutter, Sabine Schlitt, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Vera Stoppioni, Nuala Sykes, Raffaella Tancredi, Ann Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Hermán van Engeland, John B. Vincent, Fred R. Volkmar, JAS Vorstman, Simon Wallace, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Danielle Zurawiecki, Lonnie Zwaigenbaum, Anthony Bailey, Agatino Battaglia, Rita M. Cantor, Hilary Coon, Michael L. Cuccaro, Géraldine Dawson, Sean Ennis, Christine M. Freitag, Daniel H. Geschwind, Jonathan L. Haines, Sabine M. Klauck, William M. McMahon, Elena Maestrini, Judith Miller, Anthony P. Monaco, Stanley F. Nelson, John I. Nürnberger, Guiomar Oliveira, Jeremy Parr, Margaret A. Pericak‐Vance, Joseph Piven, Gerard D. Schellenberg, Stephen W. Scherer, Astrid M. Vicente, Thomas H. Wassink, Ellen M. Wijsman, Catalina Betancur, Joseph D. Buxbaum, Edwin H. Cook, Louise Gallagher, Michael Gill, Joachim Hallmayer, Andrew D. Paterson, James S. Sutcliffe, Peter Szatmari, Veronica J. Vieland, Hákon Hákonarson, Bernie Devlin,
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 a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2).In addition to evaluating the association of individual single nucleotide polymorphisms ( ...
Tópico(s): Virology and Viral Diseases
2012 - Oxford University Press | Human Molecular Genetics
Jillian P. Casey, Tiago R. Magalhães, Judith Conroy, Regina Regan, Naisha Shah, Richard Anney, Denis C. Shields, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Patrick Bolton, Thomas Bourgeron, S. Brennan, Phil Cali, Catarina Correia, Christina Corsello, Marc N. Coutanche, Géraldine Dawson, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, S. Foley, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Richard Holt, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Janine A. Lamb, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Catherine Lord, Sabata C. Lund, Elena Maestrini, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Judith Miller, Fiorella Minopoli, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Gudrun Nygren, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Barbara Parrini, Andrew Pickles, Dalila Pinto, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka, Jiannis Ragoussis, Bernadette Rogé, Michael Rutter, Ana Filipa Sequeira, Latha Soorya, Inês Sousa, Nuala Sykes, Vera Stoppioni, Raffaella Tancredi, M. Tauber, Ann Thompson, Susanne Thomson, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Jacob Vorstman, Simon Wallace, Kai Wang, Thomas H. Wassink, Kathy White, Kirsty Wing, Kerstin Wittemeyer, Brian L. Yaspan, Lonnie Zwaigenbaum, Catalina Betancur, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Daniel H. Geschwind, Jonathan L. Haines, Joachim Hallmayer, Anthony P. Monaco, John I. Nürnberger, Margaret A. Pericak‐Vance, Gerard D. Schellenberg, Stephen W. Scherer, James S. Sutcliffe, Peter Szatmari, Veronica J. Vieland, Ellen M. Wijsman, Andrew Green, Michael Gill, Louise Gallagher, Astrid M. Vicente, Sean Ennis,
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 reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy ...
Tópico(s): Genomic variations and chromosomal abnormalities
2011 - Springer Science+Business Media | Human Genetics
Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Jennifer Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, N. Sykes, A. T. Pagnamenta, J.-P. de Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, P. F. Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, A. R. Carson, Guillermo Casallo, Jillian P. Casey, Su H. Chu, Lynne Cochrane, Christina Corsello, E. L. Crawford, A. Crossett, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, James Gilbert, Christopher Gillberg, Joseph Glessner, Joel O. Goldberg, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, C. Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, A. C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Nadine Melhem, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, C. Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka, Aparna Prasad, Jiannis Ragoussis, Katy Renshaw, Jessica Rickaby, Wendy Roberts, Kathryn Roeder, Bernadette Rogé, Michael Rutter, Laura J. Bierut, John P. Rice, Jeff Salt, Katherine Sansom, Daisuke Sato, Ricardo Segurado, L. Senman, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Vera Stoppioni, Christina P. Strawbridge, Raffaella Tancredi, Katherine E. Tansey, Bhooma Thiruvahindrapduram, A. P. Thompson, Susan Thomson, Ana Tryfon, John Tsiantis, Hermán van Engeland, John B. Vincent, Fred R. Volkmar, Simon Wallace, Kai Wang, Zhonghua Wang, Thomas H. Wassink, Kirsty Wing, Kerstin Wittemeyer, S. Wood, Brian L. Yaspan, Danielle Zurawiecki, Lonnie Zwaigenbaum, Catalina Betancur, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Louise Gallagher, Daniel H. Geschwind, Michael Gill, J.L. Haines, Judith Miller, Anthony P. Monaco, John I. Nürnberger, Andrew D. Paterson, Margaret A. Pericak‐Vance, Gerard D. Schellenberg, Stephen W. Scherer, James S. Sutcliffe, Peter Szatmari, Astrid M. Vicente, Veronica J. Vieland, Ellen M. Wijsman, Bernie Devlin, Sean Ennis, Joachim Hallmayer,
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) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2010 - Oxford University Press | Human Molecular Genetics
Marc Miravitlles, Alice Turner, María Torres‐Durán, Hanan Tanash, Carlota Rodríguez‐García, José Luís López-Campos, J Chlumský, Catarina Guimarães, Juan Luis Rodríguez Hermosa, Angelo Guido Corsico, Cristina Martínez González, José María Hernández Pérez, Ana Bustamante, David Parr, Francisco Casas Maldonado, Ana Hečimović, Wim Janssens, Beatriz Lara, Míriam Barrecheguren, Cruz González, Jan Stolk, Cristina Esquinas, Christian F. Clarenbach,
The EARCO registry contains information on >1000 patients with AATD from 15 countries. The demographic characteristics and the disease characteristics are not significantly different in individuals from Northern or Southern European countries. https://bit.ly/3EdGGcC
Tópico(s): Blood Coagulation and Thrombosis Mechanisms
2023 - European Respiratory Society | European Respiratory Journal
Marc Miravitlles, Alice Turner, María Torres‐Durán, Hanan Tanash, Carlota Rodríguez‐García, José Luís López-Campos, J Chlumský, Catarina Guimarães, Juan Luis Rodríguez Hermosa, Angelo Guido Corsico, Cristina Martínez González, José María Hernández Pérez, Ana Bustamante, David Parr, Francisco Maldonado, Ana Hečimović, Wim Janssens, Beatriz Lara, Míriam Barrecheguren, Cruz González, Jan Stolk, Cristina Esquinas, Christian F. Clarenbach,
Tópico(s): Blood Coagulation and Thrombosis Mechanisms
2023 - BioMed Central | Respiratory Research