Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Monica Proud"'
Autor:
Monica Proud, Christian P. Schaaf, A L Beaudet, Danielle Guffey, Marwan Shinawi, May Ali, Patricia I. Bader, Madelyn A. Gillentine, Theresa A. Grebe, Jun Ge, Robin P. Goin-Kochel, J. Reynolds, Pawel Stankiewicz, Angela E. Lin, Jill A. Rosenfeld, Leandra N. Berry, Charles G. Minard, Vickie L. Hannig, Seema R. Lalani, Brett H. Graham, M. Chen
Publikováno v:
Journal of Autism and Developmental Disorders. 47:549-562
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHR
Autor:
Elliott H. Sherr, Monica Proud, Qixuan Chen, Sarah J. Spence, Wendy K. Chung, Elysa J. Marco, Sudha Kilaru Kessler, LeeAnne Green Snyder, Kyle J. Steinman, Debra D'Angelo, Melissa B. Ramocki
Publikováno v:
American Journal of Medical Genetics Part A. 170:2943-2955
Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but detailed descriptions of their neurologic phenotypes have not yet been complete
Autor:
Eboni M. Smith, Sherry Sellers-Vinson, Diane Treadwell-Deering, Leandra N. Berry, Sonia A. Monteiro, Monica Proud, Adiaha Spinks-Franklin, Robert G. Voigt
Publikováno v:
Clinical Pediatrics. 54:1322-1327
Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overre
Autor:
Christian P. Schaaf, Janice L. Smith, Rachel Westman, Ronit Marom, Laurence Faivre, Pawel Stankiewicz, Patricia I. Bader, Myla Ashfaq, Hsiao-Tuan Chao, Monica Proud, Hope Northrup, Lindsay E. Elton, Seema R. Lalani, Yaping Yang, Chester W. Brown, Kimberly Nugent, Lauren Dengle, James R. Lupski, Sandesh C.S. Nagamani, Heather G. Petrie, Bo Yuan, Robert Wildin, Carlos A. Bacino, Chad A. Shaw, Tomasz Gambin, Hannele Koillinen, La Donna Immken, Edward P. Buchanan, Zeynep Coban-Akdemir, Ankita Patel, Lisa Emrick, Diane Treadwell-Deering, Anita E. Beck, Nora Urraca, Sau Wai Cheung, Elizabeth Roeder, Amy M. Breman, Mathilde Lefebvre, Arthur L. Beaudet, Amber N. Pursley, Gary Bellus, Sung Hae L. Kang, Sailaja Golla, Jill A. Rosenfeld, Reuben Matalon, Michael P. Cummings, Pengfei Liu, Roya Mostafavi, Saunder Bernes, Shaun Varghese, Magdalena Walkiewicz, Weimin Bi
Publikováno v:
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Background Exon-targeted microarrays can detect small (
Autor:
Jun Ge, Pawel Stankiewicz, Jill A. Rosenfeld, May Ali, Patricia I. Bader, Robin P. Goin-Kochel, Marwan Shinawi, Leandra N. Berry, Brett H. Graham, A. L. Beaudet, Danielle Guffey, Charles G. Minard, Monica Proud, Christian P. Schaaf, Theresa A. Grebe, M. Chen, Seema R. Lalani, J. Reynolds, Angela E. Lin, Madelyn A. Gillentine, Vickie L. Hannig
Publikováno v:
Journal of autism and developmental disorders. 47(3)
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHR
Autor:
Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and beha
Autor:
Beth A. Kozel, William J. Craigen, Ankita Patel, Katie Plunkett, Kristin Herman, Pawel Stankiewicz, Sau Wai Cheung, Ayelet Erez, Sandesh C.S. Nagamani, Małgorzata J.M. Nowaczyk, Monica Proud, Brett H. Graham, Anjana L. Pettigrew, Patricia Hixson, Seema R. Lalani, Carolyn Bay, Bobbi Hopkins
Publikováno v:
European Journal of Human Genetics. 20:176-179
Submicroscopic deletions involving chromosome 1q43-q44 result in cognitive impairment, microcephaly, growth restriction, dysmorphic features, and variable involvement of other organ systems. A consistently observed feature in patients with this delet
Autor:
Pawel Stankiewicz, Amber Stocco, Marwan Shinawi, Leslie J. Allison, Amber Pursley, Steven Sparagana, Diana L. Rodriguez, William J. Craigen, John W. Belmont, Beth A. Kozel, Ankita Patel, Thaddeus W. Kurczynski, Sau Wai Cheung, Sarah Savage, Gary D. Clark, Stephen Amato, Frank J. Probst, Monica Proud, Elizabeth Roeder, Jennifer A. Lee, James R. Lupski, Daryl A. Scott, Susan G. McGrew, Pengfei Liu, Arthur L. Beaudet, Sung Hae L. Kang, Joseph J. Shen, Brett H. Graham
Publikováno v:
Journal of Medical Genetics. 47:332-341
Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (compar
Autor:
Monica Proud, Jason Reynolds, Muhammad E Haque, Amber Rogers, Laura Torres, Marija Stosic, Khader M. Hasan, Mirjana Maletic-Savatic, Jeremy Jones, Xu Han
Publikováno v:
International Journal of Developmental Neuroscience. 47:100-101
Autor:
Sau Wai Cheung, David M. Pearson, Monica Proud, Daryl A. Scott, Tyler F. Beck, Jaime M. Williams
Publikováno v:
American journal of medical genetics. Part A. (8)
Individuals with autism spectrum disorders have impairments in social, communicative, and behavior development that are often accompanied by abnormalities in cognitive functioning, learning, attention, and sensory processing. In this report, we descr