Výsledky vyhledávání - "Katherine Allran"

FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy

Autor: Stephanie L. Sherman, Lu Ann Judis, Elise Millie, Katherine Allran, Terry J. Hassold, M. Hixon, Lisa Taft

Publikováno v: Human Genetics. 103:654-657

Paternal nondisjunction accounts for approximately 5% of cases of trisomy 21. To test the hypothesis that, in some such cases, the fathers might be predisposed to meiotic nondisjunction, we utilized fluorescence in situ hybridization (FISH) to screen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::738210a863b38790af82e5dbc0bd44e7
https://doi.org/10.1007/s004390050886

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Population-based study of congenital heart defects in Down syndrome

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

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Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans

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

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Women with a Reduced Ovarian Complement May Have an Increased Risk for a Child with Down Syndrome

Autor: Lisa Taft, Sallie B. Freeman, Quanhe Yang, Stephanie L. Sherman, Katherine Allran

Publikováno v: The American Journal of Human Genetics. (5):1680-1683

Advanced maternal age is the only well-established risk factor for trisomy 21 Down syndrome (DS), but the basis of the maternal-age effect is not known. In a population-based, case-control study of DS, women who reported surgical removal of all or pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908be27518be05b29b94ed955999e1e8

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