Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Nora Urraca"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101062- (2024)
Externí odkaz:
https://doaj.org/article/80a1e3d75af04b7595f3e0a0cf0e7524
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101171- (2024)
Externí odkaz:
https://doaj.org/article/19335c4c5c5946dba626b9ec3bdf68ad
P131: Skeletal dysplasia due to a known variant of the MAP3K7 gene with unique findings in a newborn
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100160- (2023)
Externí odkaz:
https://doaj.org/article/e77d6bb066df4edcb399b97024b2ba30
P167: Atypical Sotos syndrome with normal length and late hyperinsulinemic hypoglycemia presentation
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100196- (2023)
Externí odkaz:
https://doaj.org/article/acbd17ce7e224bcd97b68fa1ec535148
Autor:
Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100464- (2023)
Externí odkaz:
https://doaj.org/article/60395c8cc41f4f2ab8ff392328671d78
Autor:
Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges, Lawrence T. Reiter
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-16 (2018)
Abstract Background The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method Here, we use dental pulp
Externí odkaz:
https://doaj.org/article/a05b1471620e4455bbdd728d00816017
Autor:
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Abstract Background Exon-targeted microarrays can detect small (
Externí odkaz:
https://doaj.org/article/e6f31aabb43544b3bfd37c91bba99006
Autor:
Nora Urraca, Rawaha Memon, Ikbale El-Iyachi, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Reese Scroggs, Gustavo A. Miranda-Carboni, Martin Donaldson, Dave Bridges, Lawrence T. Reiter
Publikováno v:
Stem Cell Research, Vol 15, Iss 3, Pp 722-730 (2015)
A major challenge to the study and treatment of neurogenetic syndromes is accessing live neurons for study from affected individuals. Although several sources of stem cells are currently available, acquiring these involve invasive procedures, may be
Externí odkaz:
https://doaj.org/article/42833800b8ef4b80886682e9f0ab6404
Autor:
Nora Urraca, Brian Potter, Rachel Hundley, Eniko Pivnick, Kathryn McVicar, Ronald Thibert, Chistopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L. Sirois, Stormy J. Chamberlain, Lawrence T. Reiter
Publikováno v:
Frontiers in Genetics, Vol 7 (2016)
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here we describe a unique family with an interstitial 15q11.2-q
Externí odkaz:
https://doaj.org/article/da4a0ec833bd41ab9f2ddd797a2a33a5
Autor:
Dustin Baldridge, David Dimmock, F. Sessions Cole, Maren Bennett, Shannon Holtrop, Ryan J. Taft, Luca Brunelli, Batsal Devkota, Lauge Farnaes, Denise M. Hoover, Julia L Ortega, Henry Joel Mroczkowski, Jennifer A. Wambach, Kristen P. Fishler, Daniel J. Wegner, Chester W. Brown, Denise L. Perry, Ajay J. Talati, Tiffiney R. Hartman, Ian D. Krantz, Roya Mostafavi, K Taylor Wild, John W Belmont, Adam Schwarz, Jamila M Weatherly, Vani Rajan, Kristin Wigby, Subramanian S. Ajay, Neda Zadeh, Jewell C. Ward, Marwan Shinawi, W Tyler Brocklehurst, Jason Knight, Keisha D Robinson, Sawona Biswas, R. Tanner Hagelstrom, Nora Urraca, Eniko K. Pivnick, John P. Cleary, Joshua C. Euteneuer, Livija Medne, Omar A. Abdul-Rahman, Ofelia Vargas-Shiraishi
Publikováno v:
JAMA Pediatrics. 175:1218
Importance Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management. Objective To determine the effect of WGS on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3bb1833b77bbe5ebdc047768ef6a3e4
https://doi.org/10.1001/jamapediatrics.2021.3496
https://doi.org/10.1001/jamapediatrics.2021.3496