Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ina Amarillo"'
Autor:
Kilannin Krysiak, Kate Stehl, Yang Cao, Katarzyna Polonis, Joan Fritz, Ina Amarillo, Julie Neidich, Molly Schroeder
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101577- (2024)
Externí odkaz:
https://doaj.org/article/b0e31efd9dc24a7da1c17e76de21c2e6
Autor:
Alejandro F. Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana María Arbeláez
Publikováno v:
JCRPE, Vol 11, Iss 1, Pp 88-93 (2019)
We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctati
Externí odkaz:
https://doaj.org/article/75ad818723b24b6eae00aba275936ce9
Autor:
Mildred K. Cho, Maria Laura Duque Lasio, Ina Amarillo, Kevin Todd Mintz, Robin L. Bennett, Kyle B. Brothers
Publikováno v:
Genetics in Medicine. 25:100343
Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific variables. This reassessment of language is particularly important for human genetics, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d8a7a23cbc85823501ed29370fbefd
https://doi.org/10.1016/j.gim.2022.11.011
https://doi.org/10.1016/j.gim.2022.11.011
Autor:
Bahareh Mojarad, Zachary Crees, Molly Schroeder, Zhifu Xiang, Justin Vader, Jason Sina, John Frater, Eric Duncavage, David Spencer, Julie Neidich, Kory Lavine, Ina Amarillo
Publikováno v:
Cancer Genetics. :33-34
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9da85f2f40e6bdf33cf2b4e4f5d7f20
https://doi.org/10.1016/j.cancergen.2022.10.108
https://doi.org/10.1016/j.cancergen.2022.10.108
Autor:
Bahareh A. Mojarad, Zachary D. Crees, Molly C. Schroeder, Zhifu Xiang, Justin Vader, Jason Sina, John Frater, Eric J. Duncavage, David H. Spencer, Kory Lavine, Julie Neidich, Ina Amarillo
Background: Only rare cases of acute myeloid leukemia (AML) have been shown to harbor a t(8;11)(p11.2;p15.4). This translocation is believed to involve the fusion of NSD3 or FGFR1 with NUP98; however, apart from targeted mRNA quantitative PCR analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::148242022958faa3b9bac29c728b5961
https://doi.org/10.21203/rs.3.rs-1374871/v1
https://doi.org/10.21203/rs.3.rs-1374871/v1
Autor:
Bahareh Mojarad, Mark Zaydman, Julie Neidich, Molly Schroeder, Yang Cao, Kilannin Krysiak, Ina Amarillo
Publikováno v:
Genetics in Medicine. 24:S237-S238
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b67a4d883072f6c01755e9e0ecd4948d
https://doi.org/10.1016/j.gim.2022.01.413
https://doi.org/10.1016/j.gim.2022.01.413
Autor:
Brooke, Sadler, Gabe, Haller, Lilian, Antunes, Momchil, Nikolov, Ina, Amarillo, Bradley, Coe, Matthew B, Dobbs, Christina A, Gurnett
Publikováno v:
Journal of Medical Genetics
Introduction Congenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c79ceddf29b303b8c01f44de7d167a77
https://pubmed.ncbi.nlm.nih.gov/32518174
https://pubmed.ncbi.nlm.nih.gov/32518174
Autor:
Yang Cao, Robert Bell, Michael Evenson, Meagan Corliss, Juliette Kahle, Abdulrahman Saadalla, Molly Schroeder, Kilannin Krysiak, Ina Amarillo, Jonathan Heusel, Julie Neidich
Publikováno v:
Cancer Genetics. :8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0545880c2e13ccefd5007ecddf4a6952
https://doi.org/10.1016/j.cancergen.2021.05.035
https://doi.org/10.1016/j.cancergen.2021.05.035
Autor:
Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Eric Vilain, Michelle Fox, Wayne Grody, Hane Lee, Catherine Keegan, Linda Ramsdell, Janet Green, Hayk Barseghyan, Naghmeh Dorrani, Lauren Mohnach, Margaret A. Pearson, Jullianne Diaz, Eyby Leon, Robert J. Hopkin, Jodie Johnson, Howard Saal, Ina Amarillo, Margaret Adam
Publikováno v:
Endocrinology and Metabolism Clinics of North America. 46:519-537
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Netwo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ac89ec82e4dbe144aafb7a142f7bc4f
https://doi.org/10.1016/j.ecl.2017.01.015
https://doi.org/10.1016/j.ecl.2017.01.015
Autor:
Brooke, Sadler, Gabe, Haller, Lilian, Antunes, Xavier, Bledsoe, Jose, Morcuende, Philip, Giampietro, Cathleen, Raggio, Nancy, Miller, Yared, Kidane, Carol A, Wise, Ina, Amarillo, Nephi, Walton, Mark, Seeley, Darren, Johnson, Conner, Jenkins, Troy, Jenkins, Matthew, Oetjens, R Spencer, Tong, Todd E, Druley, Matthew B, Dobbs, Christina A, Gurnett
Publikováno v:
Journal of medical genetics. 56(7)
INTRODUCTION: Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. Copy number variants (CNVs) play an important role in congenital scoliosis, but their role in idiopathic scolios
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6bce11cce7d3c512d5a9fdbd29a52422
https://pubmed.ncbi.nlm.nih.gov/30803986
https://pubmed.ncbi.nlm.nih.gov/30803986