Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Casie A Genetti"'
Autor:
Pankaj Agrawal, Vineet Bhandari, Casie A Genetti, Margaret Parker, Timothy Yu, Lawrence Rhein, Jessica Douglas, Bharati Sinha, Pankaj B Agrawal, Alissa M D'Gama, Sonia Hills, Vanessa Young, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Tyler Allcroft, Luis Cantu, Alissa M D’Gama, Dynio Honrubia, Amy Kritzer, Robert Rothstein, Odalys Salinas, Andres Santana, Anyssa Serna, Faye Shapiro, Anjana Bhami Shenoy, Lindsey Simoncini, Aubrie Soucy Verran, Anéya Sousa, Qifei Li, Catherine Brownstein, Klaus Schmitz-Abe, Marione Tamase Newsam
Publikováno v:
BMJ Open, Vol 14, Iss 2 (2024)
Introduction Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to o
Externí odkaz:
https://doaj.org/article/78ff633befbb42318bff4b3af4e76c91
Autor:
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
Abstract Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprot
Externí odkaz:
https://doaj.org/article/8caf97122a55476785146efefd7434e7
Autor:
Qifei Li, Michal Dibus, Alicia Casey, Christina S K Yee, Sara O Vargas, Shiyu Luo, Samantha M Rosen, Jill A Madden, Casie A Genetti, Jan Brabek, Catherine A Brownstein, Shideh Kazerounian, Benjamin A Raby, Klaus Schmitz-Abe, John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009639 (2021)
ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings
Externí odkaz:
https://doaj.org/article/aa7ea0af68b8420487248727773f6819
Autor:
Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. Agrawal
Publikováno v:
npj Genomic Medicine. 8
A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 months of age with tachypnea, interstitial lun
Autor:
Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal
Publikováno v:
Am J Hum Genet
Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcbe96535e30d1bd009e97bf4064b59
https://hdl.handle.net/11588/907834
https://hdl.handle.net/11588/907834
Autor:
Monica H. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, Tugce B. Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra‐Clarke, Matthew Edwards, Casie A. Genetti, Dorothy K. Grange, Scott E. Hickey, Bertrand Isidor, Sébastien Küry, Herbert M. Lachman, Alinoe Lavillaureix, Michael J. Lyons, Carlo Marcelis, Elysa J. Marco, Julian A. Martinez‐Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J. Prijoles, Evelise Riberi, Eric T. Rush, Bianca E. Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A. Stevenson, Kate Wilson, Sandra Jansen, Bert B. A. de Vries, Cynthia J. Curry
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 7, pp. 1900-1910
American Journal of Medical Genetics. Part A, 191, 1900-1910
American Journal of Medical Genetics. Part A, 191, 1900-1910
Item does not contain fulltext Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a larg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bb4c52a60276aeb742e8035b132210
https://repository.ubn.ru.nl/handle/2066/293471
https://repository.ubn.ru.nl/handle/2066/293471
Autor:
Julio Soto Barros, Sabrina I. Sanchez, Kristin Cabral, Alan H. Beggs, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Thomas O. Carpenter
Publikováno v:
Bone. 172:116763
Autor:
Margaret A. Hojlo, Merhawi Ghebrelul, Casie A. Genetti, Richard Smith, Shira Rockowitz, Emma Deaso, Alan H. Beggs, Pankaj B. Agrawal, David C. Glahn, Joseph Gonzalez-Heydrich, Catherine A. Brownstein
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 779
Background: Children and adolescents with early-onset psychosis (EOP) have more rare genetic variants than individuals with adult-onset forms of the illness, implying that fewer EOP participants are needed for genetic discovery. The Schizophrenia Exo
Autor:
Stacey, Pereira, Amanda M, Gutierrez, Jill Oliver, Robinson, Kurt D, Christensen, Casie A, Genetti, Carrie L, Blout Zawatsky, Rebecca L, Hsu, Bethany, Zettler, Melissa Kurtz, Uveges, Richard B, Parad, Alan H, Beggs, Ingrid A, Holm, Robert C, Green, Amy L, McGuire
Publikováno v:
Genetics in Medicine. 25:100002
Most professional guidelines recommend against genetic screening for adult-onset only conditions until adulthood, yet others argue there may be benefit to disclosing such results. We explored parents' decision-making on this issue in the BabySeq Proj
Autor:
Leslie Hotchkiss, Hayes, Morgane, Perdomini, Asli, Aykanat, Casie A, Genetti, Heather L, Paterson, Belinda S, Cowling, Christian, Freitag, Alan H, Beggs
Publikováno v:
Neurology. Genetics. 8(6)
Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,Pediatric and adult patients with suspicion for a CNM diagnosis and confirmed heterozygous pathogenic variants inForty-two patients with