Results 151 to 160 of about 107,047 (281)

Validation of Immunoassays for Total Thyroxine and Free Thyroxine and Age and Sex‐Related Variation in Thyroid Hormone Serum Concentrations in Orangutans (Pongo sp.)

open access: yesJournal of Medical Primatology, Volume 55, Issue 3, June 2026.
ABSTRACT Background Thyroid disease is reported in orangutans, but to properly diagnose and manage these disorders, reference intervals for circulating thyroid hormones are needed. Methods Commercial immunoassay kits for total thyroxine (TT4) and free thyroxine (FT4) were validated for use in orangutans (Pongo spp.).
Melissa A. Fayette   +4 more
wiley   +1 more source

Recurrent Goiter, Hyperthyroidism, Galactorrhea and Amenorrhea due to a Thyrotropin ans Prolactin-Producing Pituitary Tumor [PDF]

open access: yes, 1976
Erhardt, F.   +5 more
core   +1 more source

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

open access: yesPediatric Blood &Cancer, Volume 73, Issue 5, May 2026.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk   +9 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

open access: yesAnnals of Neurology, Volume 99, Issue 5, Page 1287-1302, May 2026.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins   +104 more
wiley   +1 more source

Recurrent Hyperthyroidism [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1954
openaire   +2 more sources

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