Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Patrícia B. S. Celestino-Soper"'
Autor:
Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, Andrea Uradu, Ty C Lynnes, William J Groh, John M Miller, Hai Lin, Hongyu Gao, Zhiping Wang, Yunlong Liu, Peng-Sheng Chen, Matteo Vatta
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0147455 (2016)
Externí odkaz:
https://doaj.org/article/da04ac1d6e57448db5b41ba7666a648d
Autor:
Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, Andrea Uradu, Ty C Lynnes, William J Groh, John M Miller, Hai Lin, Hongyu Gao, Zhiping Wang, Yunlong Liu, Peng-Sheng Chen, Matteo Vatta
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0143588 (2015)
BACKGROUND:The etiology of conduction disturbances necessitating permanent pacemaker (PPM) implantation is often unknown, although familial aggregation of PPM (faPPM) suggests a possible genetic basis. We developed a pan-cardiovascular next generatio
Externí odkaz:
https://doaj.org/article/671e576e314343f9af53efa7ab3c57d5
Autor:
Michael Rubart, Patrícia B. S. Celestino-Soper, Jonathan L. Hassel, Tatiana Foroud, Zhenhui Chen, Shuai Guo, Jum Suk Ko, Xiaochun Li, Peng-Sheng Chen, Richard J. Kovacs, Michael D. Murray, James Zheng, Ty C. Lynnes, Shien-Fong Lin, Matteo Vatta, Stanley Taylor, James E. Tisdale
Publikováno v:
American Journal of Physiology-Heart and Circulatory Physiology. 315:H375-H388
Apamin-sensitive small-conductance Ca2+-activated K+ (SK) current ( IKAS) is encoded by Ca2+-activated K+ channel subfamily N ( KCNN) genes. IKAS importantly contributes to cardiac repolarization in conditions associated with reduced repolarization r
Autor:
Geraldine Dawson, Sven Sandin, Frederico Duque, Peter Holmans, Marion Leboyer, Aarno Palotie, Fritz Poustka, Richard Delorme, Stephen Sanders, Alistair T. Pagnamenta, Lonnie Zwaigenbaum, Bridget A. Fernandez, A. Jeremy Willsey, Christine M. Freitag, Christa Lese Martin, Elena Maestrini, Elena Bacchelli, Guiomar Oliveira, Jeremy R. Parr, Guy A. Rouleau, Jonas Bybjerg-Grauholm, Joseph Piven, Latha Soorya, Lauren A. Weiss, Jonathan Green, Carsten Bøcker Pedersen, Louise Gallagher, Regina Regan, Stephan Ripke, Thomas Werge, Pat Levitt, Aravinda Chakravarti, Joana Almeida, Kathryn Roeder, Catalina Betancur, Bernie Devlin, Benjamin M. Neale, Gillian Baird, Jakob Grove, Thomas Bourgeron, David H. Ledbetter, Eftichia Duketis, Karola Rehnström, Gerard D. Schellenberg, Jillian P. Casey, Preben Bo Mortensen, Patrick Bolton, Igor Martsenkovsky, Elise Robinson, Hakon Hakonarson, Vanessa H. Bal, Stacy Steinberg, Christopher Gillberg, Kathryn Tsang, Jacob A. S. Vorstman, Verneri Anttila, Suma Jacob, Judith Conroy, J. Haines, William M. McMahon, Edwin H. Cook, Ann P. Thompson, Inês C. Conceição, Mark J. Daly, Arthur P. Goldberg, Sarah E. Medland, Milica Pejovic-Milovancevic, David M. Hougaard, Shrikant Mane, Christina M. Hultman, Susana Mouga, Hreinn Stefansson, Ellen M. Wijsman, Andreas G. Chiocchetti, Ole Mors, Phil Lee, Richard Anney, Astrid M. Vicente, Veronica J. Vieland, K. Stefansson, Stephen W. Scherer, Teimuraz Silagadze, Pall Magnusson, Donna M. Martin, Merete Nordentoft, Peter Szatmari, Patrícia B. S. Celestino-Soper, Ann S Le-Couteur, Cátia Café, Arthur L. Beaudet, Kerstin Wittemeyer, Anders D. Børglum, Joel S. Bader, Christopher S. Poultney, Hailiang Huang, Alexander Kolevzon, Margaret A. Pericak-Vance, Joachim Hallmayer, Rita M. Cantor, Eric Fombonne, Andrew Green, Dan E. Arking, M. Daniele Fallin, Matthew W. State, Christine Ladd-Acosta, Silvia Derubeis, Raphael Bernier, Regina Waltes, David G. Amaral, Manuel Mattheisen, Abraham Reichenberg, Lambertus Klei, Daniel Moreno-De-Luca, Marie Bækvad-Hansen, Maretha V. Dejonge, Susan G. McGrew, Joseph D. Buxbaum, Hilary Coon, Jennifer Reichert, Michael Gill, Herman Vanengeland, Christine Søholm Hansen, Anthony P. Monaco, Nadia Bolshakova, John I. Nurnberger, Nancy J. Minshew, Michael T. Murtha, Thomas H. Wassink, Evald Saemundsen, Simon Wallace, Sean Brennan, Sean Ennis, A. Gulhan Ercan-Sencicek, Sven Bölte, Oscar Svantesson, Susan L. Santangelo, Andrew D. Paterson, Robert L. Hendren, Timothy W. Yu, Dalila Pinto, D.E. Grice, Alison Merikangas, Stephen J. Guter, Anthony J. Bailey, Bernadette Rogé, Christopher A. Walsh, Susan E. Folstein, Wendy Roberts, Sabine M. Klauck, Marianne Giørtz Pedersen, Tiago R. Magalhaes, John R. Gilbert, Irva Hertz-Picciotto, James S. Sutcliffe, Evdokia Anagnostou, Catarina Correia, Eric M. Morrow, Daniel H. Geschwind, Jennifer K. Lowe, Agatino Battaglia, Bozenna Iliadou, Michael L. Cuccaro, Catherine Lord
Publikováno v:
Molecular Autism
Molecular Autism, BioMed Central, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Anney, R J L, Ripke, S, Anttila, V, Grove, J, Holmans, P, Huang, H, Klei, L, Lee, P H, Medland, S E, Neale, B, Robinson, E, Weiss, L A, Zwaigenbaum, L, Yu, T W, Wittemeyer, K, Willsey, A J, Wijsman, E M, Werge, T, Wassink, T H, Waltes, R, Walsh, C A, Wallace, S, Vorstman, J A S, Vieland, V J, Vicente, A M, Vanengeland, H, Tsang, K, Thompson, A P, Szatmari, P, Svantesson, O, Steinberg, S, Stefansson, K, Stefansson, H, State, M W, Soorya, L, Silagadze, T, Scherer, S W, Schellenberg, G D, Sandin, S, Sanders, S J, Saemundsen, E, Rouleau, G A, Rogé, B, Roeder, K, Roberts, W, Reichert, J, Reichenberg, A, Rehnström, K, Regan, R, Poustka, F, Poultney, C S, Piven, J, Pinto, D, Pericak-Vance, M A, Pejovic-Milovancevic, M, Pedersen, M G, Pedersen, C B, Paterson, A D, Parr, J R, Pagnamenta, A T, Oliveira, G, Nurnberger, J I, Nordentoft, M, Murtha, M T, Mouga, S, Mortensen, P B, Mors, O, Morrow, E M, Moreno-De-Luca, D, Monaco, A P, Minshew, N, Merikangas, A, McMahon, W M, McGrew, S G, Mattheisen, M, Martsenkovsky, I, Martin, D M, Mane, S M, Magnusson, P, Magalhaes, T, Maestrini, E, Lowe, J K, Lord, C, Levitt, P, Martin, C L, Ledbetter, D H, Leboyer, M, Lecouteur, A S, Ladd-Acosta, C, Kolevzon, A, Klauck, S M, Jacob, S, Iliadou, B, Hultman, C M, Hougaard, D M, Hertz-Picciotto, I, Hendren, R, Hansen, C S, Haines, J L, Guter, S J, Grice, D E, Green, J M, Green, A, Goldberg, A P, Gillberg, C, Gilbert, J, Gallagher, L, Freitag, C M, Fombonne, E, Folstein, S E, Fernandez, B, Fallin, M D, Ercan-Sencicek, A G, Ennis, S, Duque, F, Duketis, E, Delorme, R, Derubeis, S, Dejonge, M V, Dawson, G, Cuccaro, M L, Correia, C T, Conroy, J, Conceição, I C, Chiocchetti, A G, Celestino-Soper, P B S, Casey, J, Cantor, R M, Café, C, Bybjerg-Grauholm, J, Brennan, S, Bourgeron, T, Bolton, P F, Bölte, S, Bolshakova, N, Betancur, C, Bernier, R, Beaudet, A L, Battaglia, A, Bal, V H, Baird, G, Bailey, A J, Bækvad-Hansen, M, Bader, J S, Bacchelli, E, Anagnostou, E, Amaral, D, Almeida, J, Børglum, A D, Buxbaum, J D, Chakravarti, A, Cook, E H, Coon, H, Geschwind, D H, Gill, M, Hakonarson, H, Hallmayer, J, Palotie, A, Santangelo, S, Sutcliffe, J S, Arking, D E, Devlin, B & Daly, M J 2017, ' Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia ', Molecular Autism, vol. 8, 21 . https://doi.org/10.1186/s13229-017-0137-9
Molecular Autism, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Bolton, P F 2017, ' Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia ', Molecular Autism, vol. 8, pp. 21 . https://doi.org/10.1186/s13229-017-0137-9
Molecular Autism, Vol 8, Iss 1, Pp 1-17 (2017)
Molecular autism, vol 8, iss 1
The Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium 2017, ' Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia ', Autism, vol. 8, no. 21, 21 . https://doi.org/10.1186/s13229-017-0137-9
Molecular Autism, BioMed Central, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Anney, R J L, Ripke, S, Anttila, V, Grove, J, Holmans, P, Huang, H, Klei, L, Lee, P H, Medland, S E, Neale, B, Robinson, E, Weiss, L A, Zwaigenbaum, L, Yu, T W, Wittemeyer, K, Willsey, A J, Wijsman, E M, Werge, T, Wassink, T H, Waltes, R, Walsh, C A, Wallace, S, Vorstman, J A S, Vieland, V J, Vicente, A M, Vanengeland, H, Tsang, K, Thompson, A P, Szatmari, P, Svantesson, O, Steinberg, S, Stefansson, K, Stefansson, H, State, M W, Soorya, L, Silagadze, T, Scherer, S W, Schellenberg, G D, Sandin, S, Sanders, S J, Saemundsen, E, Rouleau, G A, Rogé, B, Roeder, K, Roberts, W, Reichert, J, Reichenberg, A, Rehnström, K, Regan, R, Poustka, F, Poultney, C S, Piven, J, Pinto, D, Pericak-Vance, M A, Pejovic-Milovancevic, M, Pedersen, M G, Pedersen, C B, Paterson, A D, Parr, J R, Pagnamenta, A T, Oliveira, G, Nurnberger, J I, Nordentoft, M, Murtha, M T, Mouga, S, Mortensen, P B, Mors, O, Morrow, E M, Moreno-De-Luca, D, Monaco, A P, Minshew, N, Merikangas, A, McMahon, W M, McGrew, S G, Mattheisen, M, Martsenkovsky, I, Martin, D M, Mane, S M, Magnusson, P, Magalhaes, T, Maestrini, E, Lowe, J K, Lord, C, Levitt, P, Martin, C L, Ledbetter, D H, Leboyer, M, Lecouteur, A S, Ladd-Acosta, C, Kolevzon, A, Klauck, S M, Jacob, S, Iliadou, B, Hultman, C M, Hougaard, D M, Hertz-Picciotto, I, Hendren, R, Hansen, C S, Haines, J L, Guter, S J, Grice, D E, Green, J M, Green, A, Goldberg, A P, Gillberg, C, Gilbert, J, Gallagher, L, Freitag, C M, Fombonne, E, Folstein, S E, Fernandez, B, Fallin, M D, Ercan-Sencicek, A G, Ennis, S, Duque, F, Duketis, E, Delorme, R, Derubeis, S, Dejonge, M V, Dawson, G, Cuccaro, M L, Correia, C T, Conroy, J, Conceição, I C, Chiocchetti, A G, Celestino-Soper, P B S, Casey, J, Cantor, R M, Café, C, Bybjerg-Grauholm, J, Brennan, S, Bourgeron, T, Bolton, P F, Bölte, S, Bolshakova, N, Betancur, C, Bernier, R, Beaudet, A L, Battaglia, A, Bal, V H, Baird, G, Bailey, A J, Bækvad-Hansen, M, Bader, J S, Bacchelli, E, Anagnostou, E, Amaral, D, Almeida, J, Børglum, A D, Buxbaum, J D, Chakravarti, A, Cook, E H, Coon, H, Geschwind, D H, Gill, M, Hakonarson, H, Hallmayer, J, Palotie, A, Santangelo, S, Sutcliffe, J S, Arking, D E, Devlin, B & Daly, M J 2017, ' Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia ', Molecular Autism, vol. 8, 21 . https://doi.org/10.1186/s13229-017-0137-9
Molecular Autism, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Bolton, P F 2017, ' Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia ', Molecular Autism, vol. 8, pp. 21 . https://doi.org/10.1186/s13229-017-0137-9
Molecular Autism, Vol 8, Iss 1, Pp 1-17 (2017)
Molecular autism, vol 8, iss 1
The Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium 2017, ' Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia ', Autism, vol. 8, no. 21, 21 . https://doi.org/10.1186/s13229-017-0137-9
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium - Collaborators (162): Anney RJL, Ripke S, Anttila V, Grove J, Holmans P, Huang H, Klei L, Lee PH, Medland SE, Neale B, Robinson E, Weiss LA, Zwaigenbaum L, Yu TW, Witteme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1efa92826829f7f870799b08a5c31e5
https://www.hal.inserm.fr/inserm-01535717
https://www.hal.inserm.fr/inserm-01535717
Autor:
Matteo Vatta, Hongyu Gao, Ty C. Lynnes, Patrícia B. S. Celestino-Soper, Yunlong Liu, Katherine G. Spoonamore, Hai Lin, Peng-Sheng Chen
Publikováno v:
Frontiers in Cardiovascular Medicine
The development of high throughput technologies such as next generation sequencing (NGS) has allowed for thousands of DNA loci to be interrogated simultaneously in a fast and economical method for the detection of clinically deleterious variants. Whe
Autor:
Danika Tumbleson Brink, Jana Yeley, Patrícia B. S. Celestino-Soper, Matteo Vatta, Cynthia Brown, Shaochun Bai, Stephen R. Dlouhy, Edward Simpson, Ty C. Lynnes
Publikováno v:
Scientific Reports
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digest
Autor:
Christopher B. Griffith, Patrícia B. S. Celestino-Soper, Yunlong Liu, Matteo Vatta, Hongyu Gao, Katelyn Hodge, Ty C. Lynnes, David D. Weaver, Katherine G. Spoonamore
Publikováno v:
Cardiogenetics, Vol 5, Iss 1 (2015)
Cardiogenetics; Volume 5; Issue 1; Pages: 5251
Cardiogenetics; Volume 5; Issue 1; Pages: 5251
We report on the process of post mortem evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to aortic rupture. Following the negative clinical testing of a 12- gene thoracic aortic aneury
Autor:
Zhishuo Ou, Stephen Sanders, Jian Li, A. Craig Chinault, Edwin H. Cook, Chad A. Shaw, James S. Sutcliffe, Patrícia B. S. Celestino-Soper, Michael T. Murtha, Pawel Stankiewicz, Matthew W. State, Lea K. Davis, Susanne Thomson, Tomasz Gambin, A. Gulhan Ercan-Sencicek, Arthur L. Beaudet, Jennifer R. German, Aleksandar Milosavljevic
Publikováno v:
Human Molecular Genetics. 20:4360-4370
Autism is a neurodevelopmental disorder with increasing evidence of heterogeneous genetic etiology including de novo and inherited copy number variants (CNVs). We performed array comparative genomic hybridization using a custom Agilent 1 M oligonucle
Autor:
Matteo Vatta, Katherine G. Spoonamore, Patrícia B. S. Celestino-Soper, Tomohiko Ai, Zhenhui Chen, Michael A. Olaopa, Deepak Bhakta, Peng Sheng Chen
Publikováno v:
Cardiogenetics, Vol 8, Iss 1 (2018)
Cardiogenetics; Volume 8; Issue 1; Pages: 7127
Cardiogenetics; Volume 8; Issue 1; Pages: 7127
Variants in the LMNA gene, which encodes Lamin-A/C, have been commonly associated with cardiac conduction system diseases usually accompanying cardiomyopathy. We have seen two unrelated patients who presented with atrioventricular block (AVB) with or
Publikováno v:
Journal of molecular and cellular cardiology. 74