Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Gail Stetten"'
Autor:
Elizabeth Wood, Daniel O. Saul, Gail Stetten, Sarah N. Dowey, Colyn Cain, Karin J. Blakemore, Judith Pratt Rossiter
Publikováno v:
American Journal of Medical Genetics Part A. :764-769
Mosaic trisomy 8, also known as Warkany syndrome, has a well-characterized constellation of phenotypic findings. Partial trisomy 8, including mosaic cases, has also been reported, with outcome and counseling dependent on the chromosomal segment invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd52af5b08e37520ad20a792fe4214e9
https://doi.org/10.1002/ajmg.a.32184
https://doi.org/10.1002/ajmg.a.32184
Publikováno v:
European Journal of Human Genetics. 16:153-162
Only one X chromosome functions in diploid human cells irrespective of the sex of the individual and the number of X chromosomes. Yet, as we show, more than one X is active in the majority of human triploid cells. Therefore, we suggest that (i) the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f583d62592784b03325ab27fa75a488d
https://doi.org/10.1038/sj.ejhg.5201944
https://doi.org/10.1038/sj.ejhg.5201944
Autor:
Colyn Cargile Cain, Daniel O. Saul, Lisa Attanasio, Karin J. Blakemore, Gail Stetten, Ada Hamosh, Erin Oehler
Publikováno v:
Prenatal Diagnosis. 27:373-379
Objective To explore the utility of comparative genomic hybridization to BAC arrays (array CGH) for prenatal diagnosis of microphthalmia and linear skin defects syndrome. Methods We used karyotype analysis, FISH and array CGH to investigate an X;Y tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f54d522d25cc5278ec42bbde12f0171
https://doi.org/10.1002/pd.1674
https://doi.org/10.1002/pd.1674
Autor:
Karin J. Blakemore, Richard J. Jones, Janyne Althaus, Gail Stetten, Michael Torbenson, Kathleen M. Murphy, Chris Bird, Mariya Gendelman, Scott Petersen
Publikováno v:
Fetal Diagnosis and Therapy. 22:175-179
Aim: Microchimerism following canine in utero hematopoietic stem cell transplantation (IUHSCT) development of T-cell dosing regimens. Objective: To investigate the use of anti-T-cell antibodies for cell dosing of the donor graft in a canine model of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917a51c7057651a3b22b4aa48f75d3d7
https://doi.org/10.1159/000098711
https://doi.org/10.1159/000098711
Publikováno v:
Fetal Diagnosis and Therapy. 20:58-63
Objectives: The detection of an increased nuchal translucency (NT) or nuchal fold (NF) measurement is associated with an increased risk of common aneuploidies. Only rarely is it associated with other types of chromosome abnormalities. We report the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b77de34d54a94463a0d29ab279c1fc8
https://doi.org/10.1159/000081371
https://doi.org/10.1159/000081371
Autor:
Sarah T. South, Joseph L. McMichael, Gail Stetten, Cathleen S. Escallon, Daniel O. Saul, Karin J. Blakemore
Publikováno v:
American Journal of Medical Genetics. :232-239
Chromosomal mosaicism was found in 38 of 4,000 chorionic villus samples examined from 1998 to 2003. A small fraction of these (5/38) were confirmed as true mosaics by analysis of amniotic fluid. Twenty-nine cases that fit the definition of confined p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3761ac4948b7dfa6e8ac8b838cc0661d
https://doi.org/10.1002/ajmg.a.30363
https://doi.org/10.1002/ajmg.a.30363
Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
Autor:
Cathy M. Tuck-Muller, Julie R. Korenberg, Xiao Ning Chen, Jose E. Martinez, Wladimir Wertelecki, Gail Stetten, Barbara K. Goodman, Shibo Li
Publikováno v:
Genetics in Medicine. 3:126-131
Purpose: To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs). Methods: High resolution cytogenetics followed by fluorescence in situ hybridization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e75ceb51a8d5514b8ee045ecfea3836
https://doi.org/10.1097/00125817-200103000-00007
https://doi.org/10.1097/00125817-200103000-00007
Autor:
Hungshu Wang, Lorraine F. Meisner, Lisa G. Shaffer, Shivanand R. Patil, Douglas W. Hershey, Lillian Y. F. Hsu, Gail Stetten, Christine M. Disteche, Fran Williams, Rodney R. Higgins, Colleen Jackson-Cook, Barbara F. Crandall, Gregory A. Mengden, Leonard J. Sciorra, Ann Leslie Zaslav, Roger P. Donahue, Elizabeth Keitges, Robert Wallerstein, Gabriel S. Khodr, Richard L. Neu, Frederick W. Luthardt, Daniel L. Van Dyke, Catherine Lee Bowen, Peter Benn, Lauren S. Jenkins, Maria Y. Rodriguez, Ming Tsung Yu, Chyi-Chyang Lin, Betty Harrison
Publikováno v:
Prenatal Diagnosis. 20:103-122
Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::712156e319e1793d86662027c03677bc
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
Autor:
Kristyne Stone, Jomo M. Coddett, Karin J. Blakemore, Edith D. Gurewitsch, Gail Stetten, Barbara K. Goodman, Colyn B. Cargile
Publikováno v:
Prenatal Diagnosis. 19:1150-1156
We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69bf62b99e02bb6ff8cfb9ce75becdc0
https://doi.org/10.1002/(sici)1097-0223(199912)19:12<1150::aid-pd733>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199912)19:12<1150::aid-pd733>3.0.co
Autor:
Jennifer S. Lee, Roger H. Reeves, Clara S. Moore, Gail Stetten, Laura L. Baxter, Bruce W. Birren
Publikováno v:
Genomics. 59:1-5
To link the cytogenetic map for mouse chromosome 16 (Chr 16) to the more detailed recombinational and physical maps, multiple probes were mapped by fluorescence in situ hybridization (FISH). Sixteen large insert clones (YACs, BACs, and PACs) containi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce3ce64c501bbf242506f7cbf7aa7d6
https://doi.org/10.1006/geno.1999.5812
https://doi.org/10.1006/geno.1999.5812