Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Sallie B. Freeman"'
Autor:
Charlotte M. Druschel, Paul A. Romitti, Charlotte A. Hobbs, Stephanie L. Sherman, Sallie B. Freeman, Claudine P. Torfs, Marjorie H. Royle
Publikováno v:
Clinical Genetics. 75:180-184
We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::884c85ab1cc82c7cd6a5af47c271bdf4
https://doi.org/10.1111/j.1399-0004.2008.01110.x
https://doi.org/10.1111/j.1399-0004.2008.01110.x
Autor:
Emily G. Allen, Sallie B. Freeman, Claudine P. Torfs, Leslie A. O'Leary, Paul A. Romitti, Charlotte M. Druschel, Charlotte A. Hobbs, Stephanie L. Sherman, Marjorie H. Royle
Publikováno v:
Human Genetics. 125:41-52
We examined the association between maternal age and chromosome 21 nondisjunction by origin of the meiotic error. We analyzed data from two population-based, case–control studies: Atlanta Down Syndrome Project (1989–1999) and National Down Syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949b54563582cbc48731061172772a55
https://doi.org/10.1007/s00439-008-0603-8
https://doi.org/10.1007/s00439-008-0603-8
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:
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
Publikováno v:
Mental Retardation and Developmental Disabilities Research Reviews. 13:221-227
Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical signifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d2b7505f9c5462c8ef30aff8d3500d
https://doi.org/10.1002/mrdd.20157
https://doi.org/10.1002/mrdd.20157
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:
Lisa Taft, Kenneth J. Dooley, Katherine Allran, Sallie B. Freeman, Muin J. Khoury, Denise Saker, Stephanie L. Sherman, Terry J. Hassold
Publikováno v:
American Journal of Medical Genetics. 80:213-217
Mental retardation and hypotonia are found in virtually all Down syndrome (DS) individuals, whereas congenital heart defects (CHDs) are only present in a subset of cases. Although there have been numerous reports of the frequency of CHDs in DS, few o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::619e40314d3b9e90d951796eed7f5d3a
https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<213::aid-ajmg6>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<213::aid-ajmg6>3.0.co
Autor:
Sallie B. Freeman, Claudine P. Torfs, Katherine Allran, Georgia Karadima, Terry J. Hassold, Michael B. Petersen, Dimitris Avramopoulos, Lisa Taft, Amanda Savage, Margareta Mikkelsen, Dorothy Pettay, Stephanie L. Sherman
Publikováno v:
Human Molecular Genetics. 7:1221-1227
Paternal non-disjunction of chromosome 21 accounts for 5-10% of Down syndrome cases, therefore, relative to the maternally derived cases, little is known about paternally derived trisomy 21. We present the first analysis of recombination and non-disj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a5c60e74f7ee80b23ffd4bae8e1bba
https://doi.org/10.1093/hmg/7.8.1221
https://doi.org/10.1093/hmg/7.8.1221
Autor:
Marjorie H. Royle, Sallie B. Freeman, Claudine P. Torfs, Tiffany Renee Oliver, Emily G. Allen, Stuart W. Tinker, Leslie A. O'Leary, Charlotte M. Druschel, Stephanie L. Sherman, Charlotte A. Hobbs, Paul A. Romitti, Lora J. H. Bean, NaTasha D. Hollis
Both a lack of maternal folic acid supplementation and the presence of genetic variants that reduce enzyme activity in folate pathway genes have been linked to meiotic nondisjunction of chromosome 21; however, the findings in this area of research ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3eb635f84602c5d640066b4064b2eba
https://europepmc.org/articles/PMC3607196/
https://europepmc.org/articles/PMC3607196/
Autor:
Michael B. Petersen, Sallie B. Freeman, Anni Hallberg, Yuanchao Gu, Terry J. Hassold, Stephanie L. Sherman, Denise Saker, Margareta Mikkelsen, Dorothy Pettay, Dimitris Avramopoulos, Kristen M. May, Neil E. Lamb, Joseph J. Shen, Amanda Savage-Austin, Jane Hersey, Lisa Taft
Publikováno v:
Nature Genetics. 14:400-405
The cause of non-disjunction of chromosome 21 remains largely unknown. Advanced maternal age is associated with both maternal meiosis I (MI) and meiosis II (MII) non-disjunction events. While reduced genetic recombination has been demonstrated in mat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963d6ea12216d371480a196dfd90067a
https://doi.org/10.1038/ng1296-400
https://doi.org/10.1038/ng1296-400