Results 111 to 120 of about 784,305 (383)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

The Role of RFamide-Related Peptide-3 in Age-Related Reproductive Decline in Female Rats. [PDF]

, 2016
Reproductive senescence, the point in time when females cease to show estrous cyclicity, is associated with endocrine changes in the hypothalamus, pituitary, and gonads. However, the mechanisms triggering this transition are not well understood.
Bentley, George E, Geraghty, Anna C, Kaufer, Daniela, Kriegsfeld, Lance J, Muroy, Sandra E   +4 more
core   +1 more source

MECHANISMS IN ENDOCRINOLOGY: Diabetes mellitus, a state of low bone turnover - a systematic review and meta-analysis.

European Journal of Endocrinology, 2017
OBJECTIVE To investigate the differences in bone turnover between diabetic patients and controls. DESIGN A systematic review and meta-analysis. METHODS A literature search was conducted using the databases Medline at PubMed and EMBASE.
K. Hygum, J. Starup-Linde, T. Harsløf, P. Vestergaard, B. Langdahl   +4 more
semanticscholar   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Ciba Foundation Colloquia on Endocrinology [PDF]

, 1959
Alan Goldfien
openalex   +3 more sources

Prenatal programming of neuroendocrine reproductive function [PDF]

, 2016
It is now well recognized that the gestational environment can have long-lasting effects not only on the life span and health span of an individual but also, through potential epigenetic changes, on future generations.
Bellingham, Michelle, Evans, Neil P., Robinson, Jane E.   +2 more
core   +1 more source

American Association of Clinical Endocrinology Clinical Practice Guideline for the Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Primary Care and Endocrinology Clinical Settings: Co-Sponsored by the American Association for the Study of Liver Diseases (AASLD).

Endocrine Practice, 2022
K. Cusi, S. Isaacs, D. Barb, R. Basu, S. Caprio, W. Garvey, S. Kashyap, J. Mechanick, M. Mouzaki, Karl Z Nadolsky, M. Rinella, M. Vos, Z. Younossi   +12 more
semanticscholar   +1 more source

Implementation of flipped classroom combined with problem-based learning: an approach to promote learning about hyperthyroidism in the endocrinology internship

BMC Medical Education, 2019
With the development of medicine, new teaching methods, such as flipped classroom and problem-based learning (PBL), have received much attention in medical education.
Xiaolei Hu, Hengyan Zhang, Yuan Song, Chenchen Wu, Qingqing Yang, Zhaoming Shi, Xiaomei Zhang, Weidong Chen   +7 more
semanticscholar   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source