Results 211 to 220 of about 86,477 (266)

Unusual Dual Brain Tumor Morphologies in an MEN1 Patient: A Case Report of Diagnostic Challenges and Methylation Insights. [PDF]

Int J Mol Sci
Patel V, Aboud O, Barakat A.
europepmc   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Endocrine advantages of PD-1/PD-L1 therapy: Comparative analysis of FAERS-JADER. [PDF]

PLoS One
Gao Y, Jiang S, Cui Y, Wang Y, Yu L.
europepmc   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Autoimmune Polyglandular Syndrome Type 3 and Overlapping Autoimmune Endocrinopathies: A Case Report. [PDF]

Cureus
Nagarajan DR, Mani Jacob D, Ottu Para NK.   +2 more
europepmc   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Association of germline variants in the ZFX gene with primary hyperparathyroidism. [PDF]

PLoS One
Aranaga-Decori AC, González P, Gómez-Conde S, Madariaga L, Valdes N, Castaño L, García-Castaño A, Calcium and Phosphorus Metabolism Molecular Biology Group.   +7 more
europepmc   +1 more source

Structural and Hormonal Changes in Reproductive-Age Women Post-COVID-19: A Cross-Sectional Ultrasound and Biochemical Study. [PDF]

Diagnostics (Basel)
Yerkenova S, Lokshin V, Kurmanova A, Moiynbayeva S, Alikeyeva G, Kalibekova G, Abdirova T, Zhantenova Z, Shaikova K, Mireeva A, Turgumbayeva A.   +10 more
europepmc   +1 more source

Polycystic Ovary Syndrome-Associated Acne: The Interplay of Hyperandrogenism, Insulin Resistance, and Therapeutic Strategies. [PDF]

Cureus
Damoulaki E, Sioutis D, Sarli V, Trakakis E, Mastorakos G, Katoulis A, Kastrinakis K, Koratzanis C, Machairiotis N, Panagopoulos P, Christodoulaki C.   +10 more
europepmc   +1 more source