Results 11 to 20 of about 35,482 (247)
Genetics of monogenic disorders of calcium and bone metabolism. [PDF]
Clin Endocrinol (Oxf), 2022 AbstractDisorders of calcium homeostasis are the most frequent metabolic bone and mineral disease encountered by endocrinologists. These disorders usually manifest as primary hyperparathyroidism (PHPT) or hypoparathyroidism (HP), which have a monogenic aetiology in 5%–10% of cases, and may occur as an isolated endocrinopathy, or as part of a complex ...
Newey PJ +3 more
europepmc +5 more sources
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls [PDF]
Frontiers in Genetics, 2023 Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing.
Line Dahl Jeppesen +19 more
doaj +2 more sources
Advanced Science, 2019 Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures,
Xingkun Yang +19 more
doaj +2 more sources
Monogenic disorders of obesity and body fat distribution
Journal of Lipid Research, 1999 Recently, great progress has been made towards understanding the molecular basis of body fat regulation. Identification of mutations in several genes in spontaneous monogenic animal models of obesity and development of transgenic models have indicated ...
Dali Chen, Abhimanyu Garg
doaj +3 more sources
Compendium of causative genes and their encoded proteins for common monogenic disorders [PDF]
Protein Science, 2022 Tucker L Apgar, Charles R Sanders
exaly +2 more sources
Monogenic Disorders of Puberty [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2002 Normal puberty is associated with the onset and progressive activation of the hypothalamic-pituitary-gonadal (HPG) axis and the resultant development of secondary sexual characteristics. Puberty begins with increasing nocturnal pulsatile hypothalamic GnRH secretion, which gradually occurs throughout the 24-h day. Pulsatile GnRH stimulates pituitary FSH
Sophia N. Kalantaridou +1 more
openaire +2 more sources
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Frontiers in Endocrinology, 2021 Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass disorders, with the underlying genetic
Melissa M. Formosa +23 more
doaj +1 more source
Preimplantation Genetic Testing for Monogenic Disorders [PDF]
Genes, 2020 Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications
De Rycke, Martine, Berckmoes, Veerle
openaire +3 more sources
Frontiers in Immunology, 2020 Objective: Monogenic autoinflammatory diseases (AIDs) are inborn disorders caused by innate immunity dysregulation and characterized by robust autoinflammation.
Wei Wang +12 more
doaj +1 more source
What Can RNA-Based Therapy Do for Monogenic Diseases?
Pharmaceutics, 2023 The use of RNA-based approaches to treat monogenic diseases (i.e., hereditary disorders caused by mutations in single genes) has been developed on different fronts.
Luka A. Clarke, Margarida D. Amaral
doaj +1 more source