Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

L A Metherell

Showing results (11-20 of 26) with videos related to

Pageof 3
Sort By:
Endocrine Development|February 9, 2013
ACTH resistance: genes and mechanismsE Meimaridou, C R Hughes, J Kowalczyk, et al.
Journal of Endocrinological Investigation|October 30, 2014
Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiencyH L Storr, R Prasad, I K Temple, et al.
European Journal of Endocrinology|November 12, 2009
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiencyR P Dias, L F Chan, L A Metherell, et al.
The Journal of Endocrinology|October 20, 2017
NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male miceE Meimaridou, M Goldsworthy, V Chortis, et al.
The Journal of Clinical Endocrinology and Metabolism|April 30, 2010
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2C R Hughes, T T Chung, A M Habeb, et al.
European Journal of Endocrinology|October 9, 2009
Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivityA David, F Miraki-Moud, N J Shaw, et al.
European Journal of Pediatrics|May 28, 2013
Familial glucocorticoid deficiency: a diagnostic challenge during acute illnessAbdelhadi M Habeb, Claire R Hughes, Rida Al-Arabi, et al.
European Journal of Endocrinology|September 29, 2011
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory proteinV Jain, L A Metherell, A David, et al.
European Journal of Endocrinology|October 13, 2004
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiencyL A Metherell, M O Savage, M Dattani, et al.
The Journal of Steroid Biochemistry and Molecular Biology|July 20, 2020
Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunctionA Maharaj, J Williams, T Bradshaw, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Endocrine Development|February 9, 2013
ACTH resistance: genes and mechanismsE Meimaridou, C R Hughes, J Kowalczyk, et al.
Journal of Endocrinological Investigation|October 30, 2014
Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiencyH L Storr, R Prasad, I K Temple, et al.
European Journal of Endocrinology|November 12, 2009
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiencyR P Dias, L F Chan, L A Metherell, et al.
The Journal of Endocrinology|October 20, 2017
NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male miceE Meimaridou, M Goldsworthy, V Chortis, et al.
The Journal of Clinical Endocrinology and Metabolism|April 30, 2010
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2C R Hughes, T T Chung, A M Habeb, et al.
European Journal of Endocrinology|October 9, 2009
Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivityA David, F Miraki-Moud, N J Shaw, et al.
European Journal of Pediatrics|May 28, 2013
Familial glucocorticoid deficiency: a diagnostic challenge during acute illnessAbdelhadi M Habeb, Claire R Hughes, Rida Al-Arabi, et al.
European Journal of Endocrinology|September 29, 2011
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory proteinV Jain, L A Metherell, A David, et al.
European Journal of Endocrinology|October 13, 2004
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiencyL A Metherell, M O Savage, M Dattani, et al.
The Journal of Steroid Biochemistry and Molecular Biology|July 20, 2020
Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunctionA Maharaj, J Williams, T Bradshaw, et al.
Pageof 3