Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Whitney Neufeld-Kaiser"'
Autor:
Candace Myers, Whitney Neufeld-Kaiser, Iya Znoyko, Cindy Johnson, Edith Cheng, Joseph Jwang, Anita Beck, Daynna Wolff, Yajuan Liu
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101502- (2024)
Externí odkaz:
https://doaj.org/article/c0fec42fbc3d4edd8b4aecb41803f766
Publikováno v:
BMC Cardiovascular Disorders, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Introduction Hypoplastic left heart syndrome (HLHS) is a rare but devastating congenital heart defect (CHD) accounting for 25% of all infant deaths due to a CHD. The etiology of HLHS remains elusive, but there is increasing evidence to suppo
Externí odkaz:
https://doaj.org/article/d790084442b14be7aa858f53785eaf6d
Autor:
Xinxian Deng, He Fang, Asha Pathak, Angela M. Zou, Whitney Neufeld-Kaiser, Emily A. Malouf, Richard A. Failor, Fuki M. Hisama, Yajuan J. Liu
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundHypergonadotropic hypogonadism (HH) is characterized by low sex steroid levels and secondarily elevated gonadotropin levels with either congenital or acquired etiology. Genetic factors leading to HH have yet to be fully elucidated.MethodsHe
Externí odkaz:
https://doaj.org/article/3dc4d9f2c90a4f2f956fd8f281eb4c74
Publikováno v:
Cancer Genetics. :24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61d172d3c3d3806b401af9ff706153dd
https://doi.org/10.1016/j.cancergen.2022.10.077
https://doi.org/10.1016/j.cancergen.2022.10.077
Autor:
Xinxian, Deng, He, Fang, Asha, Pathak, Angela M, Zou, Whitney, Neufeld-Kaiser, Emily A, Malouf, Richard A, Failor, Fuki M, Hisama, Yajuan J, Liu
Publikováno v:
Frontiers in Genetics
Background Hypergonadotropic hypogonadism (HH) is characterized by low sex steroid levels and secondarily elevated gonadotropin levels with either congenital or acquired etiology. Genetic factors leading to HH have yet to be fully elucidated. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::52b3f72ab03382550b8da9fe554d49e1
https://pubmed.ncbi.nlm.nih.gov/33193636
https://pubmed.ncbi.nlm.nih.gov/33193636
Publikováno v:
BMC Cardiovascular Disorders, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Cardiovascular Disorders
BMC Cardiovascular Disorders
IntroductionHypoplastic left heart syndrome (HLHS) is a rare but devastating congenital heart defect (CHD) accounting for 25% of all infant deaths due to a CHD. The etiology of HLHS remains elusive, but there is increasing evidence to support a genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea5c8202fbf7e34cbd87550204b695f4
https://doi.org/10.1186/s12872-020-01404-5
https://doi.org/10.1186/s12872-020-01404-5
Autor:
Karen D. Tsuchiya, Margaret P. Adam, Edith Y. Chang, Erin S. Oehler, Whitney Neufeld-Kaiser, Heather M. Byers
Publikováno v:
Journal of perinatology : official journal of the California Perinatal Association
Objective: Non-invasive prenatal screening (NIPS) utilizes circulating cell-free DNA (cfDNA) to screen for fetal genetic abnormalities. NIPS is the first widely-available prenatal screen to assess genotypic sex. Most pediatricians have limited famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3197f6e4917b0d787f3ba38bbc7199
https://doi.org/10.1038/s41372-018-0278-5
https://doi.org/10.1038/s41372-018-0278-5
Autor:
Peter H. Byers, Yajuan J. Liu, Hiba Risheg, Suneeta Madan-Khetarpal, Mary Beth Dinulos, Jill A. Rosenfeld, Whitney Neufeld-Kaiser, McKenna Kyriss, Andrew M. Cheng
Publikováno v:
American Journal of Medical Genetics Part A. 173:1848-1857
Congenital heart defects (CHD) are the most frequent type of congenital anomaly and are often associated with genetic and chromosomal syndromes. Haploinsufficiency of TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2) has been proposed to ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a53bc1737680d3fedc067a4498d20e
https://doi.org/10.1002/ajmg.a.38254
https://doi.org/10.1002/ajmg.a.38254
Autor:
Whitney Neufeld-Kaiser, Daniel F. Gallego, Yajuan J. Liu, Corinne L. Fligner, Sheila Weiss, Kimberly K. Ma, Christina M. Lockwood
Publikováno v:
The Journal of Applied Laboratory Medicine. 1:576-580
A 32-year-old G3P2002 (3 pregnancies, 2 births at full term, 0 preterm, 0 abortions, 2 still living) pregnant woman of Filipino ancestry was referred to a tertiary institution for severe intrauterine growth restriction (IUGR)4 at 20 weeks' gestation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3d5e3a52449b2762cb9a31b6f4ae81
https://doi.org/10.1373/jalm.2016.021238
https://doi.org/10.1373/jalm.2016.021238
Autor:
Melissa Racobaldo, Amarilis Sanchez-Valle, Erin Torti, Jane Juusola, Katrina M. Dipple, Jennifer N. Dines, Gisele E. Ishak, Christine M. Disteche, Kirsty McWalter, Dan Doherty, Whitney Neufeld-Kaiser, Yajuan J. Liu, Hannah M. Tully, Taylor Sawyer
Publikováno v:
American Journal of Medical Genetics Part A.
Rare individuals with 20p11.2 proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, biliary atresia, midline brain defects associated with panhypopituitarism, intellectual disability, scoliosis, and sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1810fe4d868da51d0017b595d073b65
https://doi.org/10.1002/ajmg.a.61281
https://doi.org/10.1002/ajmg.a.61281