Results 51 to 60 of about 72,115 (280)
Advanced Science, EarlyView.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li +22 more
wiley +1 more source
Hypertension Due to Co-existing Paraganglioma and Unilateral Adrenal Cortical Hyperplasia
Journal of the Formosan Medical Association, 2007 A rare case of combined unilateral adrenal hyperplasia and paraganglioma is reported. A 27-year-old woman presented with hypertension, palpitation, dizziness, and headache for about 3 months. Elevated plasma aldosterone with low renin and a high level of
Kuo-Hsuan Chiang +6 more
doaj +1 more source
Syrian females with congenital adrenal hyperplasia: a case series
Journal of Medical Case Reports, 2022 Background One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing ...
Nada Dehneh +4 more
doaj +1 more source
, 2019 Glucocorticoid replacement therapy, available since the 1950s, has prolonged the survival of patients with adrenal insufficiency. However, adrenal crises, which are life-threatening medical emergencies, still develop in many affected patients.
Falhammar, Henrik +2 more
core +1 more source
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]
, 2017 With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F. +5 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [PDF]
, 2021 Seung Gyun Lim +7 more
openalex +1 more source
Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]
, 2015 Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V. +2 more
core +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims Prescribing is a complex, essential skill that doctors must acquire to practice medicine safely and effectively. The British Pharmacological Society has historically provided a core curriculum to guide clinical pharmacology and prescribing education in UK medical schools.
Dagan O. Lonsdale +5 more
wiley +1 more source
Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba [PDF]
, 2021 Tania Mayvel Espinosa Reyes +5 more
openalex +1 more source