Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Padmasree Veeraraghavan"'
Autor:
Kshama Aswath, James Welch, Sriram Gubbi, Padmasree Veeraraghavan, Shirisha Avadhanula, Sudheer Kumar Gara, Esra Dikoglu, Maria Merino, Mark Raffeld, Liqiang Xi, Electron Kebebew, Joanna Klubo-Gwiezdzinska
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Familial non-medullary thyroid cancer (FNMTC) is a form of endocrine malignancy exhibiting an autosomal dominant mode of inheritance with largely unknown germline molecular mechanism. Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is anot
Externí odkaz:
https://doaj.org/article/df924ab650c54750b31905dac6be657a
Autor:
Qizong Lao, Ashwini Mallappa, Fabio Rueda Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen, Deborah P. Merke
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH‐X, a connective
Externí odkaz:
https://doaj.org/article/22eba82d14834c35bee7dfe4d8021b87
Autor:
Sanjay Jumani, Yamini Sterett, Henrik Elenius, Padmasree Veeraraghavan, Ryan Carrie, Jaydira del Rivero, Samira Sadowski, Naris Nilubol, Freddy Escorcia, Lynnette Nieman, Evgenia Globa, Marina Zemskova, Joanna Klubo-Gwiezdzinska, Sriram Gubbi
Publikováno v:
Journal of the Endocrine Society. 6:A849-A850
Introduction Medullary thyroid carcinoma (MTC) accounts for 5-10% of all thyroid cancers and up to 30% of MTCs are hereditary. Only 0.6% of MTCs are associated with a paraneoplastic ACTH-dependent Cushing's syndrome (CS) (PMID: 16029131). Even rarer
Autor:
Shirisha Avadhanula, James Welch, Sudheer Kumar Gara, Maria J. Merino, Joanna Klubo-Gwiezdzinska, Kshama Aswath, Mark Raffeld, Padmasree Veeraraghavan, Sriram Gubbi, Liqiang Xi, Electron Kebebew, Esra Dikoglu
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, Vol 12 (2021)
Familial non-medullary thyroid cancer (FNMTC) is a form of endocrine malignancy exhibiting an autosomal dominant mode of inheritance with largely unknown germline molecular mechanism. Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is anot
Autor:
Ashwini Mallappa, Smita Jha, Deborah P. Merke, Padmasree Veeraraghavan, Jamie Marko, Diala El-Maouche
Publikováno v:
Journal of the Endocrine Society
Testicular adrenal rest tumors (TARTs) are a common cause of male infertility in patients with classic congenital adrenal hyperplasia (CAH). These tumors are located in the rete testis and can lead to impaired blood flow and functional impairment of
Autor:
Shilpa Thakur, Darryl Nousome, Kshama Aswath, Stephanie Cardenas, Sonam Kumari, Ruth Adewale, Maria Merino, Esra Dikoglu, Padmasree Veeraraghavan, Sriram Gubbi, Joanna Klubo-Gwiezdzinska
Publikováno v:
Cancer Research. 82:769-769
Background: Struma Ovarii (SO) is a rare ovarian teratoma characterized by the presence of thyroid tissue in >50% of the tumor. The majority of SO are benign; however, malignant transformation occurs in up to 5% of the cases. The molecular foundation
Autor:
Ashwini Mallappa, Padmasree Veeraraghavan, Qizong Lao, Fabio R. Faucz, Elizabeth Joyal, Wuyan Chen, Deborah P. Merke
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH‐X, a connective tissue d
Autor:
Deborah P. Merke, Maggie Dwiggins, Kylie Fowler, Brittany Brookner, Veronica Gomez-Lobo, Padmasree Veeraraghavan
Publikováno v:
J Endocr Soc
Context 46,XX patients with classic congenital adrenal hyperplasia (CAH) are exposed to elevated androgens in utero causing varying levels of virilization. The majority undergo feminizing genitoplasty early in life, with potential impact on sexual fu
Autor:
Adina F. Turcu, Brittany Brookner, Padmasree Veeraraghavan, Ashwini Mallappa, Ninet Sinaii, Smita Jha, Deborah P. Merke, Richard J. Auchus
Publikováno v:
Journal of the Endocrine Society
Background 21-hydroxylase-deficiency (21OHD) accounts for more than 95% of CAH cases. Serum 17-hydroxyprogesteron (17OHP) and androstenedione (A4) are traditional biomarkers for monitoring therapy. While generally there is good linear correlation bet
Autor:
Ashwini Mallappa, Elizabeth Joyal, Deborah P. Merke, Padmasree Veeraraghavan, Courtney J Hargreaves, Ninet Sinaii, Diala El-Maouche
Publikováno v:
Journal of the Endocrine Society
Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of primary adrenal insufficiency during childhood and patients are at risk for life-threatening adrenal crisis. In a recent study from