Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Amy Cronister"'
Autor:
Taylor Jensen, Dagny Noeth, Amy Cronister, Paul DePietro, Roger Klein, Mary Nesline, Sarabjot Pabla, Anjen Chenn, Shengle Zhang, Jonathan Klein, Sarah Howarth, Eric Severson, Shakti Ramkissoon, Marcia Eisenberg, Prasanth Reddy, Jeffrey Conroy
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100053- (2023)
Externí odkaz:
https://doaj.org/article/c05e150837244b3fa3fa7466bcbf2f8c
Publikováno v:
Molecular Genetics and Metabolism. 132:S199
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1138fd0201c87965b3a5992dc744f76b
https://doi.org/10.1016/s1096-7192(21)00394-2
https://doi.org/10.1016/s1096-7192(21)00394-2
Autor:
Liane Abrams, Sufen Chiu, Elizabeth Berry-Kravis, Lawrence M. Nelson, Brenda Finucane, Randi J Hagerman, Allyn McConkie-Rosell, Ajay Vatave, David R Hessl, Sarah M. Coffey, Louise W. Gane, Amy Cronister, Natalie Street, Stephanie L. Sherman
Publikováno v:
Journal of Genetic Counseling. 16:593-606
The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Dav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edcfd66705041deee18e7b1159a78493
https://doi.org/10.1007/s10897-007-9099-y
https://doi.org/10.1007/s10897-007-9099-y
Publikováno v:
Genetics in Medicine. 7:246-250
Purpose: To document our experience with fragile X carrier screening. Methods: In this study, 29,103 women with no known or suspected family history of fragile X syndrome were offered fragile X carrier screening during their prenatal genetic counseli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8603e5c71b187679f798606bbadc4a1
https://doi.org/10.1097/01.gim.0000159898.90221.d3
https://doi.org/10.1097/01.gim.0000159898.90221.d3
Autor:
Elizabeth Berry-Kravis, Sarah L. Nolin, Emily G. Allen, Raghav Shroff, W. Ted Brown, Gary J. Latham, Nicole Ersalesi, Flora Tassone, Marcia Jodah, Amy Cronister, Stephanie L. Sherman, Andrew Hadd, Anne Glicksman, Sachin Sah, Carolyn M. Yrigollen, Carl Dobkin
We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45–69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::988b71d1815464f2a7b02882984ead6d
https://europepmc.org/articles/PMC4396070/
https://europepmc.org/articles/PMC4396070/
Publikováno v:
American Journal of Medical Genetics. 64:382-387
The basic components of genetic counseling are informational and educational. The patient's cognitive and emotional presentation and the needs and concerns of the patient are seldom addressed. Females who carry the FMR1 pre and full gene mutation may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27b80c688518cb2cc584a3940f7b57dc
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<382::aid-ajmg30>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<382::aid-ajmg30>3.0.co
Autor:
Debra Skinner, Liane Abrams, Randi J Hagerman, Stephanie L. Sherman, Walter E. Kaufmann, Flora Tassone, Jonathan Picker, Elizabeth Berry-Kravis, Sarah M. Coffey, Robert L. Miller, W. T. Brown, Vanessa A. Johnson, Amy Cronister, Allyn McConkie-Rosell, Brenda Finucane
Publikováno v:
Pediatrics. 130(6)
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f69ff2cad49bb9284f2dd190a22108
https://pubmed.ncbi.nlm.nih.gov/23129072
https://pubmed.ncbi.nlm.nih.gov/23129072
Autor:
Brenda Finucane, Robin L. Bennett, Alison D Archibald, Allyn McConkie-Rosell, Liane Abrams, Amy Cronister
Publikováno v:
Journal of genetic counseling. 21(6)
Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about the phenotypic consequences of FMR1 transcription and translation, sharp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7de7d61828c7b919b9e90aab754522
https://pubmed.ncbi.nlm.nih.gov/22797890
https://pubmed.ncbi.nlm.nih.gov/22797890
Publikováno v:
Journal of the American Academy of Child & Adolescent Psychiatry. 31:1141-1148
The neurocognitive phenotype of fragile X and its relation to cytogenetic expression were examined among 10 fragile X women with $ 2% expression, 10 0% obligate carriers, and 10 controls. Measures were obtained for intellectual ability, achievement,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e71674d8e6efae3108fb2ad5c357e5df
https://doi.org/10.1097/00004583-199211000-00025
https://doi.org/10.1097/00004583-199211000-00025
Publikováno v:
American Journal of Medical Genetics. 38:283-287
A 13-item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed bef
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc1822c772866db19ed35b2a42ce86c
https://doi.org/10.1002/ajmg.1320380223
https://doi.org/10.1002/ajmg.1320380223