Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Stuart W. Tinker"'
Autor:
Tiffany Renee Oliver, Candace D Middlebrooks, Stuart W Tinker, Emily Graves Allen, Lora J H Bean, Ferdouse Begum, Eleanor Feingold, Reshmi Chowdhury, Vivian Cheung, Stephanie L Sherman
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99560 (2014)
Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type o
Externí odkaz:
https://doaj.org/article/4dfaa2cbb5d54f1e8ee39c1a21c88da9
Publikováno v:
Human Mutation. 34:1183-1188
Current technology allows clinical laboratories to rapidly translate research discoveries from small patient cohorts into clinical genetic tests; therefore, a potentially large proportion of sequence variants identified in individuals with clinical f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cca561bf80c0a1af307db9db90de0ed
https://doi.org/10.1002/humu.22364
https://doi.org/10.1002/humu.22364
Autor:
Ann Abramowitz, Stephanie L. Sherman, Michael P. Epstein, Stuart W. Tinker, Jessica Ezzell Hunter
Publikováno v:
Behavior Genetics. 42:415-422
We recently reported elevated symptoms associated with attention-deficit hyperactivity disorder (ADHD) among adult female carriers of the FMR1 premutation. To gain insight into the contribution of this mutation in the context of polygenes, we examine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9e28d08f9266b21e350db843f229f4
https://doi.org/10.1007/s10519-011-9520-z
https://doi.org/10.1007/s10519-011-9520-z
Autor:
Archit Bhise, Stuart W. Tinker, Stephanie L. Sherman, Eleanor Feingold, Tiffany Renee Oliver, Nirupama Masse
Publikováno v:
American Journal of Medical Genetics Part A. :1685-1690
Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea763e53d33ad89a84520809308a9ebd
https://doi.org/10.1002/ajmg.a.32942
https://doi.org/10.1002/ajmg.a.32942
Autor:
Sallie B. Freeman, Claudine P. Torfs, Stuart W. Tinker, Emily G. Allen, Kenneth J. Dooley, Marjorie H. Royle, Charlotte M. Druschel, Charlotte A. Hobbs, Paul A. Romitti, Lora J. H. Bean, Adam E. Locke, Stephanie L. Sherman
Publikováno v:
Genetics in Medicine. 10:173-180
Purpose: The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome. Methods: Between 2000 and 2004, six sites collected DNA, clinical, and epidemiological inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ab402d59ec9df85a02df4d08f12af8
https://doi.org/10.1097/gim.0b013e3181634867
https://doi.org/10.1097/gim.0b013e3181634867
Autor:
Lisa Shubeck, Stephanie L. Sherman, Jorge L. Juncos, Stuart W. Tinker, Debra Hamilton, Emily G. Allen, Richard Letz, Michele Rusin, Gloria Novak
Publikováno v:
Journal of Medical Genetics. 45:290-297
Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is distinct from fragile X syndrome (FXS) with respect to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05809b2d16e7ad4e5536409b137c2c87
https://doi.org/10.1136/jmg.2007.054676
https://doi.org/10.1136/jmg.2007.054676
Autor:
Paul A. Romitti, Stephanie L. Sherman, Stuart W. Tinker, Emily G. Allen, Sallie B. Freeman, Claudine P. Torfs, Marjorie H. Royle, Leslie A. O'Leary, Charlotte A. Hobbs, Cindy L. Oxford-Wright, Charlotte M. Druschel
Publikováno v:
Public Health Reports. 122:62-72
Objective. The National Down Syndrome Project (NDSP), based at Emory University in Atlanta, Georgia, represents a multi-site, population-based, case-control study with two major aims: ( 1) to identify molecular and epidemiological factors contributin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d379b29f46c5b975d94a602d8927d186
https://doi.org/10.1177/003335490712200109
https://doi.org/10.1177/003335490712200109
Autor:
Eleanor Feingold, Stephanie L. Sherman, Kimberly F. Kerstann, Robert Pyatt, Sallie B. Freeman, Stuart W. Tinker, Lora J. H. Bean, Amy H. Jewel, George T. Capone
Publikováno v:
Genetic Epidemiology. 27:240-251
n Many of the birth defects associated with trisomy exhibit both variable expressivity and incomplete penetrance. This variability suggests that it is allelic variation and not simply the presence of an additional chromosome that leads to the develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cdfc23885e0f22d1dbb20fa874ea925
https://doi.org/10.1002/gepi.20019
https://doi.org/10.1002/gepi.20019
Autor:
Emily G. Allen, Reshmi Chowdhury, Eleanor Feingold, Stuart W. Tinker, Stephanie L. Sherman, Ferdouse Begum, Vivian G. Cheung, Candace D. Middlebrooks, Lora J. H. Bean, Tiffany Renee Oliver
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99560 (2014)
PLoS ONE
PLoS ONE
Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa30d83f445fe5359d8179e534a7c72
http://europepmc.org/articles/PMC4057233?pdf=render
http://europepmc.org/articles/PMC4057233?pdf=render
Autor:
Marcia Adams, Eleanor Feingold, Vivian G. Cheung, Candace D. Middlebrooks, Emily G. Allen, Ferdouse Begum, Reshmi Chowdhury, Nandita Mukhopadhyay, Lora J. H. Bean, Stuart W. Tinker, Kimberly F. Doheny, Stephanie L. Sherman
In oocytes with nondisjoined chromosomes 21 due to a meiosis I (MI) error, recombination is significantly reduced along chromosome 21; several lines of evidence indicate that this contributes to the nondisjunction event. A pilot study found evidence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870a88997c3270aa0ce16b1bcdab1ee8
https://europepmc.org/articles/PMC3869361/
https://europepmc.org/articles/PMC3869361/
