Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Alyssa L. Ritter"'
Autor:
Priyanka Anvekar, Paul Stephens, Renzo JC. Caldero-Anyosa, Hunter Kauffman, Danielle S. Burstein, Alyssa L. Ritter, Rebecca C. Ahrens-Nicklas, Victoria L. Vetter, Anirban Banerjee
Background In children with hypertrophic cardiomyopathy (HCM), the genotype-phenotype association of abnormal electrocardiographic (ECG) features in the backdrop of gene positivity have not been well described. This study aimed to describe abnormal E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9342adcb6e417bbc120b559927bc19c0
https://doi.org/10.21203/rs.3.rs-2886949/v1
https://doi.org/10.21203/rs.3.rs-2886949/v1
Autor:
Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi
Publikováno v:
Genet Med
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/
https://europepmc.org/articles/PMC9923403/
Autor:
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre
Publikováno v:
Journal of Medical Genetics, 59(11), 1058-1068. BMJ PUBLISHING GROUP
J Med Genet
J Med Genet
BackgroundA neurodevelopmental syndrome was recently reported in four patients withSOX4heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcc7109453ac5c5dd3b5ae4e14c6a32
http://hdl.handle.net/1887/3563135
http://hdl.handle.net/1887/3563135
Autor:
Hunter, Kauffman, Rebecca C, Ahrens-Nicklas, Renzo J C, Calderon-Anyosa, Alyssa L, Ritter, Kimberly Y, Lin, Joseph W, Rossano, Michael D, Quartermain, Anirban, Banerjee
Publikováno v:
Pediatric research. 90(2)
Noonan Syndrome with Multiple Lentigines (NSML) and Noonan Syndrome (NS) can be difficult to differentiate clinically in early childhood. This study aims to describe characteristics of the ventricular septum that may differentiate NSML from NS. We hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ab6540708e9ae3febcc4500ab68ae2a
https://pubmed.ncbi.nlm.nih.gov/33318624
https://pubmed.ncbi.nlm.nih.gov/33318624
Autor:
Anvekar, Priyanka, Stephens Jr., Paul, Calderon-Anyosa, Renzo J. C., Kauffman, Hunter L., Burstein, Danielle S., Ritter, Alyssa L., Ahrens-Nicklas, Rebecca C., Vetter, Victoria L., Banerjee, Anirban
Publikováno v:
Pediatric Cardiology; Dec2024, Vol. 45 Issue 8, p1784-1797, 14p
Autor:
Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N., Ritter, Alyssa L., Leonard, Jacqueline M. M., Savatt, Juliann M., Douglass, Kristen, Myers, Scott M., Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C. E., Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J., de Lange, Iris M.
Publikováno v:
Journal of Medical Genetics; Nov2022, Vol. 59 Issue 11, p1058-1068, 11p
Autor:
Oliver, Chris, Groves, Laura, Hansen, Blake D., Salehi, Masoud, Kheradmand, Shaydah, Carrico, Cheri S., Caudill, Patti, Mattingly, Mark, Dorsett, Dale, Chea, Stephenson, Singh, Vijay Pratap, Krantz, Ian D., Huisman, Sylvia, Deardorff, Matthew A., Kline, Antonie D.
Publikováno v:
American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p1005-1014, 10p
Autor:
Kumble, Smitha, Levy, Amanda M., Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane‐Yeboa, Kwame, Benke, Paul J., Berger, Sara M., Bjerglund, Lise, Campos‐Xavier, Belinda, Ciliberto, Michael, Cohen, Julie S., Comi, Anne M., Curry, Cynthia, Damaj, Lena, Denommé‐Pichon, Anne‐Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice
Publikováno v:
Human Mutation; Feb2022, Vol. 43 Issue 2, p266-282, 17p
Autor:
Kauffman, Hunter, Ahrens-Nicklas, Rebecca C., Calderon-Anyosa, Renzo J. C., Ritter, Alyssa L., Lin, Kimberly Y., Rossano, Joseph W., Quartermain, Michael D., Banerjee, Anirban
Publikováno v:
Pediatric Research; Aug2021, Vol. 90 Issue 2, p444-451, 8p
Autor:
Ritter, Alyssa L., McDougall, Carey, Skraban, Cara, Medne, Livija, Bedoukian, Emma C., Asher, Stephanie B., Balciuniene, Jorune, Campbell, Colleen D., Baker, Samuel W., Denenberg, Elizabeth H., Mazzola, Sarah, Fiordaliso, Sarah K., Krantz, Ian D., Kaplan, Paige, Ierardi‐Curto, Lynne, Santani, Avni B., Zackai, Elaine H., Izumi, Kosuke
Publikováno v:
American Journal of Medical Genetics. Part A; Sep2018, Vol. 176 Issue 9, p1890-1896, 7p