Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Karrie A, Hines"'
Autor:
Taylor A. Steyer, Priscila D. Hodges, Caroline E. Rouse, Wilfredo Torres‐Martinez, Leah Wetherill, Karrie A. Hines
Publikováno v:
Journal of Genetic Counseling.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e90cfdea2bab1dbcf738b8bd2fee9c0
https://doi.org/10.1002/jgc4.1717
https://doi.org/10.1002/jgc4.1717
Publikováno v:
Journal of Genetic Counseling. 30:428-438
Advanced paternal age (APA) has no formal definition, though many publications utilize the cutoff of fathers >40 years of age. The literature demonstrates an association between APA and certain conditions including de novo autosomal dominant disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b273a0f3fc84dbf79902c5cab519589d
https://doi.org/10.1002/jgc4.1328
https://doi.org/10.1002/jgc4.1328
Autor:
Joseph F. Biddle, Leah Wetherill, Gabrielle C. Geddes, Kayla Quirin, Caroline E. Rouse, Karrie A. Hines
Publikováno v:
J Community Genet
The objective of this pilot study was to characterize healthcare professionals’ knowledge of advanced paternal age (APA), the associated risks, as well as current clinical practices regarding APA. Our study utilized an online survey that questioned
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48e854e8e0af612bb681485003b87e2
https://pubmed.ncbi.nlm.nih.gov/35715593
https://pubmed.ncbi.nlm.nih.gov/35715593
Publikováno v:
Journal of genetic counselingREFERENCES. 30(2)
Expanded carrier screening identifies individuals who are at risk of having a child with an autosomal recessive condition. The most accurate risk assessment requires that both mother and father undergo carrier screening to determine whether they are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565834176147c4c3c2c17767235722e
https://pubmed.ncbi.nlm.nih.gov/33010192
https://pubmed.ncbi.nlm.nih.gov/33010192
Autor:
Barrett K. Robinson, David D. Weaver, Karrie A. Hines, Anna S. Victorine, Wilfredo Torres-Martinez, Jennifer Weida
Publikováno v:
American Journal of Medical Genetics Part A. 164:820-823
Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66269a107da64b03e22500077011399d
https://doi.org/10.1002/ajmg.a.36362
https://doi.org/10.1002/ajmg.a.36362
Autor:
David D. Weaver, Kristyne Stone, Gail H. Vance, Jennifer Verbrugge, Karrie A. Hines, Kaylee E. Henson, Wilfredo M. Torres
Publikováno v:
American Journal of Medical Genetics Part A. :1788-1792
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80fcc3c9b958874283b4cab7fa2471e3
https://doi.org/10.1002/ajmg.a.35405
https://doi.org/10.1002/ajmg.a.35405
Publikováno v:
Case Reports in Perinatal Medicine. 3:151-153
Fetal seizures are relatively rare and most often associated with anomalies or adverse neonatal outcome. We describe a patient who presented in both her G1 and G2 pregnancies with fetal seizures. The second pregnancy was a twin gestation in which onl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33a414aca0eda77a61eceab947726470
https://doi.org/10.1515/crpm-2014-0009
https://doi.org/10.1515/crpm-2014-0009
Autor:
Kimberly A. Quaid, Julie M. H. Horsting, Karrie A. Hines, Katelyn Hanson, Shaochun Bai, Stephen R. Dlouhy
Publikováno v:
Journal of genetic counseling. 23(3)
First identified in 1997, cell-free fetal DNA (cffDNA) has just recently been used to detect fetal aneuploidy of chromosomes 13, 18, and 21, showing its potential to revolutionize prenatal genetic testing as a non-invasive screening tool. Although th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e4fcba0db00fd2693e58a1bd2e3001d
https://pubmed.ncbi.nlm.nih.gov/24352524
https://pubmed.ncbi.nlm.nih.gov/24352524
Autor:
Tulle Hazelrigg, Hongbo Yang, Kaitlin M. Flannery, Lori L. Wallrath, Michael W. Vitalini, Craig A. Mizzen, Diane E. Cryderman, Karrie A. Hines
Centric regions of eukaryotic genomes are packaged into heterochromatin, which possesses the ability to spread along the chromosome and silence gene expression. The process of spreading has been challenging to study at the molecular level due to repe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f772e44de9562027770617f677253a
https://europepmc.org/articles/PMC2728884/
https://europepmc.org/articles/PMC2728884/
Publikováno v:
Journal of genetic counseling. 19(2)
Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de4da405bed1c6db765692ff695b58e
https://pubmed.ncbi.nlm.nih.gov/19851850
https://pubmed.ncbi.nlm.nih.gov/19851850