Zobrazeno 1 - 10
of 26
pro vyhledávání: '"George S. Jeha"'
Autor:
Timothy C. R. Prickett, Eric A. Espiner, Melita Irving, Carlos Bacino, John A. Phillips, Ravi Savarirayan, Jonathan R. S. Day, Elena Fisheleva, Kevin Larimore, Ming Liang Chan, George S. Jeha
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Evidence from genetic disorders of CNP signalling suggests that plasma concentrations of CNP are subject to feedback regulation. In subjects with Achondroplasia (Ach), CNP intracellular activity is suppressed and plasma concentrations are ra
Externí odkaz:
https://doaj.org/article/9c58d52760614349b09c3ee814ed06ba
Autor:
Mustafa Tosur MD, Michael T. Collins MD, Stephen W. Ponder MD, Constantine A. Stratakis MD, D(med)Sc, Lefkothea P. Karaviti MD, PhD, George S. Jeha MD
Publikováno v:
Global Pediatric Health, Vol 4 (2017)
Externí odkaz:
https://doaj.org/article/5e466400b64e4f24a69e67ff63a5bb85
Autor:
Mustafa Tosur MD, George S. Jeha MD
Publikováno v:
Global Pediatric Health, Vol 4 (2017)
Externí odkaz:
https://doaj.org/article/a1726a1dd2d7452aa122e5013794be8e
Autor:
Ron S Newfield, Kyriakie Sarafoglou, Patricia Y Fechner, Natalie J Nokoff, Richard J Auchus, Maria G Vogiatzi, George S Jeha, Nagdeep Giri, Eiry Roberts, Julia Sturgeon, Jean L Chan, Robert H Farber
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context Crinecerfont, a corticotropin-releasing factor type 1 (CRF1) receptor antagonist, has been shown to reduce elevated adrenal androgens and precursors in adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD CAH), a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdf90dfb828b8a27e54fa68b3d5f7cf2
https://doi.org/10.1210/clinem/dgad270
https://doi.org/10.1210/clinem/dgad270
Autor:
Alice Huntsman-Labed, George S Jeha, Jonathan Day, Antonio Leiva-Gea, Elena Fisheleva, Chandler Crews, Ravi Savarirayan, Keiichi Ozono, Kala Jayaram, Klaus Mohnike, Julie Hoover-Fong, Carlos A Bacino, Valerie Cormier-Daire, Yasemin Alanay, Melita Irving, Mary Andrews, Cristina Klafehn
Publikováno v:
Future Rare Diseases. 1
Vosoritide is a drug developed for the treatment of achondroplasia and has demonstrated increases in the growth velocity of children with this condition. Achondroplasia is a skeletal dysplasia (a condition affecting children’s bones and joints mean
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eff2ae05af8bb89e7a04c8edf70ac91a
https://doi.org/10.2217/frd-2021-0009
https://doi.org/10.2217/frd-2021-0009
Autor:
Olaf Bodamer, Amy E. Knight Johnson, Siri Atma W. Greeley, Alejandro Diaz, Aishwarya Devarajan, Declan Cody, Daniela del Gaudio, Pratik Shah, Kai Lee Yap, Diva D De Leó-Crutchlow, Viswateja Nelakuditi, Sian Ellard, Soma Das, Lisa Truong, David Fischer, Paul S. Thornton, Lindsay C. Burrage, Priscilla Kandikatla, George S. Jeha, Andrew C. Edmondson, Jacea Deml, Sara Halbach, Valeria C Benavides, Darrel Waggoner, Andrea M. Lewis
Publikováno v:
Genetics in Medicine. 21:233-242
The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leo-Critchlow in the original version of this paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93f637a03e6f3efccd37163e64180288
https://doi.org/10.1038/s41436-018-0013-9
https://doi.org/10.1038/s41436-018-0013-9
Autor:
Siri Atma W. Greeley, Darrel Waggoner, Viswateja Nelakuditi, Kai Lee Yap, David Fischer, Sian Ellard, Alejandro Diaz, Pratik Shah, Jacea Deml, Priscilla Kandikatla, Olaf Bodamer, Amy E. Knight Johnson, Soma Das, George S. Jeha, Andrew C. Edmondson, Andrea M. Lewis, Daniela del Gaudio, Diva D. De León, Paul S. Thornton, Sara Halbach, Lisa Truong, Valeria C Benavides, Aishwarya Devarajan, Lindsay C. Burrage, Declan Cody
Publikováno v:
Genet Med
PURPOSE: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. METHODS: We documented the clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d65a55b50dec1d2f43753f034d10501
https://doi.org/10.1038/s41436-018-0126-1
https://doi.org/10.1038/s41436-018-0126-1
Autor:
Greeley Saw, Paul S. Thornton, Soma Das, el Gaudio D, Andrea M. Lewis, Sara Halbach, George S. Jeha, Valeria C Benavides, Andrew C. Edmondson, Declan Cody, Alejandro Diaz, Pratik Shah, Jacea Deml, David Fischer, Kai Lee Yap, Johnson Aek, Nelakuditi, De Leon Dd, Lindsay C. Burrage, Sian Ellard, Darrel Waggoner, Priscilla Kandikatla, Olaf Bodamer, Truong L, Aishwarya Devarajan
Publikováno v:
Yearbook of Paediatric Endocrinology.
Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI.We documented the clinical features and molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff84673cc88f18f7f589ca74ecf541c
https://doi.org/10.1530/ey.16.2.2
https://doi.org/10.1530/ey.16.2.2
Autor:
Mustafa, Tosur, George S, Jeha
Publikováno v:
Global Pediatric Health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73ce55a8e421e781771ba3f8cd06cc91
https://pubmed.ncbi.nlm.nih.gov/28491926
https://pubmed.ncbi.nlm.nih.gov/28491926
Autor:
Luoping Li, Sophia Y. Tsai, Lawrence Chan, Claire Haueter, Xin Xie, Ming-Jer Tsai, Pradip K. Saha, Jun Yan, George S. Jeha, Jun Qin
Publikováno v:
Cell Metabolism. 9(1):77-87
Adipose tissue development and function play a central role in the pathogenesis and pathophysiology of metabolic syndromes. Here, we show that chicken ovalbumin upstream promoter transcription factor II (COUP-TFII) plays a pivotal role in adipogenesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ecd928f016af28dd617cbbe4d18857