Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Toni R. Prezant"'
Autor:
Rachel Morissette, Meredith Elman, Toni R Prezant, Ninet Sinaii, Fady Hannah-Shmouni, Deborah P. Merke, Wuyan Chen, Ann E. Pulver
Publikováno v:
Genetics in Medicine
Purpose Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d092084579e33f64d690d4741eb296
http://europepmc.org/articles/PMC5675788
http://europepmc.org/articles/PMC5675788
Autor:
Toni R. Prezant, Shlomo Melmed
Publikováno v:
Current Opinion in Endocrinology & Diabetes. 9:61-78
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f7d3ab5019543329b851df2e5a4dd89
https://doi.org/10.1097/00060793-200202000-00009
https://doi.org/10.1097/00060793-200202000-00009
Autor:
Ernesto De Menis, Toni R. Prezant
Publikováno v:
Pituitary. 5:11-15
Isolated familial somatotropinomas (IFS) rarely occurs in the absence of multiple endocrine neoplasia type I (MEN1) or the Carney complex. In the present study we report two Italian siblings affected by GH-secreting adenomas. There was no history of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4a5510c685826f7482491e9d9b32aad
https://doi.org/10.1023/a:1022193015993
https://doi.org/10.1023/a:1022193015993
Autor:
Vivien Herman-Bonert, Hrayr Shahinian, Kalman Kovacs, Hiralal G. Maheshwari, Shlomo Melmed, Toni R. Prezant
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:3409-3416
Gigantism is caused by GH hypersecretion occurring before epiphyseal long bone closure and usually is associated with pituitary adenoma. A 15-yr-old female patient presented with accelerated growth due to a large pituitary tumor that was surgically r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad778a25d57519de4c7fbebabe2d75d0
https://doi.org/10.1210/jcem.85.9.6824
https://doi.org/10.1210/jcem.85.9.6824
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 84:1149-1152
A novel proto-oncogene, PTTG (Pituitary Tumor Transforming Gene), was isolated in our laboratory by virtue of its increased expression in rat pituitary tumor cell lines. Cells which overexpress human or rat PTTG form tumors in athymic mice. hPTTG is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4871ac1e18345d359268d9f2904971db
https://doi.org/10.1210/jcem.84.3.5658
https://doi.org/10.1210/jcem.84.3.5658
Autor:
Mario Vaisman, Toni R. Prezant, Roberta P. Glick, Shlomo Melmed, Stanley F. Moskal, Mônica R. Gadelha, Karina N. Une, Rhonda D. Kineman, Lawrence A. Frohman
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 84:249-256
Familial acromegaly/gigantism occurring in the absence of multiple endocrine neoplasia type I (MEN-1) or the Carney complex has been reported in 18 families since the biochemical diagnosis of GH excess became available, and the genetic defect is unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83457774d2ca41323ade092b14d183f7
https://doi.org/10.1210/jcem.84.1.5370
https://doi.org/10.1210/jcem.84.1.5370
Autor:
Gregory A. Horwitz, Shlomo Melmed, Marcello D. Bronstein, Toni R. Prezant, Masahiro Nakashima, Xun Zhang, Alberto Valentini
Publikováno v:
Molecular Endocrinology. 13:156-166
Despite advances in characterizing the pathophysiology and genetics of pituitary tumors, molecular mechanisms of their pathogenesis are poorly understood. Recently, we isolated a transforming gene [pituitary tumor-transforming gene (PTTG)] from rat p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8857eae539e670bf2c90f7d7f42b3e
https://doi.org/10.1210/mend.13.1.0225
https://doi.org/10.1210/mend.13.1.0225
Autor:
David F. Johnson, William E Chaltraw, Boris Lubavin, Toni R. Prezant, Nathan Fischel-Ghodsian
Publikováno v:
Hearing Research. 120:62-68
Aminoglycoside antibiotics at non-toxic levels can cause sensorineural hearing loss in genetically predisposed individuals. The major aminoglycoside hypersensitivity mutation that has been described in humans is at position 1555 in the mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d025e05da5bbfd4863363cd6dd75fa9a
https://doi.org/10.1016/s0378-5955(98)00057-4
https://doi.org/10.1016/s0378-5955(98)00057-4
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 83:1388-1391
Anterior pituitary tumors arise sporadically, and also as part of the inherited multiple endocrine neoplasia type 1 (MEN 1) syndrome. To investigate the role of the recently isolated men1 gene in sporadic pituitary tumorigenesis, the complete coding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::396b2fae6ff6ebb30ed675d1cb482660
https://doi.org/10.1210/jcem.83.4.4859
https://doi.org/10.1210/jcem.83.4.4859
Autor:
William E.jr Chaltraw, Rena E. Falk, Kimberly A. Wendt, Ralph A. Nelson, Toni R. Prezant, Nathan Fischel-Ghodsian, Kathleen S. Arnos
Publikováno v:
American Journal of Otolaryngology. 18:173-178
Purpose: Aminoglycoside-induced deafness caused by mutations in the mitochondrial 12S ribosomal RNA gene has been described in a number of Asian patients. The purpose of the current study is to analyze ethnically diverse patients in the United States
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5738d825bab12f62446ca34c69431fd7
https://doi.org/10.1016/s0196-0709(97)90078-8
https://doi.org/10.1016/s0196-0709(97)90078-8