Are biochemical tests of thyroid function of any value in monitoring patients receiving thyroxine replacement? [PDF]
, 1986 William D. Fraser +5 more
openalex +1 more source
Thyroglobulin levels in COVID-19-positive patients: Correlations with thyroid function tests, inflammatory markers, and glucocorticoid use. [PDF]
Front Endocrinol (Lausanne), 2022 Świątkowska-Stodulska R +2 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Use the most appropriate and useful test(s) in evaluating thyroid function. [PDF]
, 1984 G H White
openalex +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
Artificial intelligence and thyroid disease management: considerations for thyroid function tests. [PDF]
Biochem Med (Zagreb), 2022 Gruson D +6 more
europepmc +1 more source
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier +7 more
wiley +1 more source
Are biochemical tests of thyroid function of any value in monitoring patients receiving thyroxine therapy? [PDF]
, 1986 W D Fraser +5 more
openalex +1 more source
Interpreting thyroid function tests in babies of mothers with thyroid disease. [PDF]
Singapore Med J, 2022 Wu CY +4 more
europepmc +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone +11 more
wiley +1 more source