Zobrazeno 1 - 10
of 212
pro vyhledávání: '"Carolyn A. Bondy"'
Autor:
Paul Kruszka, Maximilian Muenke, N. Banks, Frank X. Donovan, David R. Murdock, Settara C. Chandrasekharappa, Carolyn A. Bondy
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). Diagnosis is often delayed, resulting in missed crucial diagnostic and therapeutic opportun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a7e1e7425aabdbe594665af3c6733a6
https://doi.org/10.1210/jc.2016-3414
https://doi.org/10.1210/jc.2016-3414
Autor:
Carolyn A. Bondy
Publikováno v:
Expert review of endocrinologymetabolism. 2(3)
New treatments for girls and women with Turner syndrome (monosomy X) have dramatically improved their quality of life and health. Young girls are treated with growth hormone to enhance adult height, and with estrogen to induce and maintain feminizati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::683208faab8fdc3a805a8ea54d5299fb
https://pubmed.ncbi.nlm.nih.gov/30743800
https://pubmed.ncbi.nlm.nih.gov/30743800
Autor:
Carolyn A. Bondy
Publikováno v:
Advances in Endocrinology. 2014:1-9
The past decade produced important advances in molecular genetic techniques potentially supplanting the traditional cytogenetic diagnosis of Turner syndrome (TS). Rapidly evolving genomic technology is used to screen 1st trimester pregnancies for sex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49f7a8d610a4d4b8b3f4aef0e985f6a9
https://doi.org/10.1155/2014/231089
https://doi.org/10.1155/2014/231089
Autor:
Vladimir K. Bakalov, Laura J. Olivieri, Carolyn A. Bondy, W. Patricia Bandettini, Douglas R. Rosing, Andrew E. Arai, Ridhwan Y. Baba, Vandana Sachdev
Publikováno v:
Circulation: Cardiovascular Imaging. 6:1018-1023
Background— Congenital aortic valve fusion is associated with aortic dilation, aneurysm, and rupture in girls and women with Turner syndrome. Our objective was to characterize aortic valve structure in subjects with Turner syndrome and to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::777d1c4e20eb1606747f13578c68d92c
https://doi.org/10.1161/circimaging.113.000526
https://doi.org/10.1161/circimaging.113.000526
Autor:
Andrew E. Arai, Vladimir K. Bakalov, Laura J. Olivieri, Douglas R. Rosing, Carolyn A. Bondy, Clara M. Cheng
Publikováno v:
Journal of Medical Genetics
Background Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5656b19890af3ec11cae937bb80df25
https://doi.org/10.1136/jmedgenet-2013-101720
https://doi.org/10.1136/jmedgenet-2013-101720
Publikováno v:
Journal of Women's Health. 22:230-235
Turner Syndrome (TS) is due to X chromosome monosomy and affects ~1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cbd2faa10bc2853167932c4bafa309
https://doi.org/10.1089/jwh.2012.3931
https://doi.org/10.1089/jwh.2012.3931
Autor:
Hector I. Michelena, Dianna M. Milewicz, Eduardo Bossone, Scott A. LeMaire, Carolyn A. Bondy, Rodolfo Citro, Angela E. Lin, Siddharth K. Prakash, Simon C. Body, Michael Silberbach, GenTAC Registry Investigators, Giuseppe Limongelli, Cheryl L. Maslen, Laura Perrone
Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffb97a28987dff7b93ef28d9f36d403f
http://hdl.handle.net/11588/898395
http://hdl.handle.net/11588/898395
Autor:
Douglas R. Rosing, Andrew E. Arai, Ahmed M. Gharib, Carolyn A. Bondy, Liat Gutin, Vladimir K. Bakalov
Publikováno v:
American Heart Journal. 164:419-424
Background Women with X-chromosome monosomy or Turner syndrome (TS) are at increased risk for aortic dilation and dissection. To better understand the pathology and develop tools to monitor the risk of aortic disease, we investigated N-terminal pro-b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0009cf237090eaf65adadd8b9a17176
https://doi.org/10.1016/j.ahj.2012.06.021
https://doi.org/10.1016/j.ahj.2012.06.021
Autor:
Tracy N. Hadnott, Carolyn A. Bondy
Publikováno v:
Expert Review of Obstetrics & Gynecology. 6:217-227
Spontaneous pregnancy is rare among women with Turner syndrome (TS) since primary ovarian failure occurs in childhood for most patients. Recently, assisted pregnancies with donated oocytes have been successful in terms of live births among women with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e2d0f04b26321017dc387a90ac535bd
https://doi.org/10.1586/eog.11.7
https://doi.org/10.1586/eog.11.7
Autor:
Carolyn A. Bondy
Publikováno v:
Hormone Research in Paediatrics. 71:52-56
Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e851d99fff165908cc062e65710e4264
https://doi.org/10.1159/000178039
https://doi.org/10.1159/000178039