Results 111 to 120 of about 9,396,953 (279)

Letter to the editor of clinical endocrinology: Assessment of adrenal function in patients who survive COVID-19. [PDF]

Clin Endocrinol (Oxf), 2023
Clarke SA, Phylactou M, Patel B, Mills EG, Muzi B, Izzi-Engbeaya C, Choudhury S, Khoo B, Meeran K, Comninos AN, Abbara A, Tan T, Dhillo WS.   +12 more
europepmc   +1 more source

Glucocorticoid Receptor and Adipocyte Biology. [PDF]

, 2018
Glucocorticoids are steroid hormones that play a key role in metabolic adaptations during stress, such as fasting and starvation, in order to maintain plasma glucose levels.
Harris, Charles A, Lee, Rebecca A, Wang, Jen-Chywan   +2 more
core   +2 more sources

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Community health orientation of Indian Journal of Endocrinology and Metabolism: A bibliometric analysis of Indian Journal of Endocrinology and Metabolism

Indian Journal of Endocrinology and Metabolism, 2015
Background: Endocrine and metabolic diseases especially diabetes have become focus areas for public health professionals. Indian Journal of Endocrinology and Metabolism (IJEM), a publication of Endocrine Society of India, is a peer-reviewed online ...
Kanica Kaushal, Sanjay Kalra
doaj   +1 more source

Mendelian Randomization Studies in Endocrinology: Raising the Quality Bar for Submissions and Publications in The Journal of Clinical Endocrinology & Metabolism.

Journal of Clinical Endocrinology and Metabolism, 2023
A. D. Kjaergaard, George Davey Smith, Paul M Stewart   +2 more
semanticscholar   +1 more source

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]

, 2009
Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I., Ben-Omran, T., Chadefaux, B., Chakrapani, A., Ellard, S., Flanagan, S. E, Fulton, P., Hussain, K., Kapoor, R. R, Shield, J. P   +9 more
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

The Danish national type 2 diabetes cohort – the DD2 study

Clinical Epidemiology, 2012
Henrik Toft Sørensen,1 Søren Friborg,2 Jørgen Rungby,3 Jens Sandahl Christensen,4 Allan Vaag,5 Henning Beck-Nielsen61Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 2Department of Endocrinology M,
Sørensen HT, Friborg S, Rungby J, Christiansen JS, Vaag A, Beck-Nielsen H   +5 more
doaj  

Epigenetic regulation of bone mass. [PDF]

Best Pract Res Clin Endocrinol Metab, 2022
Curtis EM, Fuggle NR, Cooper C, Harvey NC.   +3 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source