Results 211 to 220 of about 2,239,849 (408)
C. Aubert+32 more
semanticscholar +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
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
Use the most appropriate and useful test(s) in evaluating thyroid function. [PDF]
G H White
openalex +1 more source
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart+6 more
wiley +1 more source
XML Evaluation of Thyroid Dysfunction during Imatinib Therapy in Chronic Myeloid Leukemia
Background: Imatinib mesylate is the first generation of Tyrosine kinase inhibitors (TKI) and highly effective in the treatment of chronic myeloid leukemia (CML).
Abolghasem Allahyari+3 more
doaj
Thyroglobulin levels in COVID-19-positive patients: Correlations with thyroid function tests, inflammatory markers, and glucocorticoid use. [PDF]
Świątkowska-Stodulska R+2 more
europepmc +1 more source
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey+6 more
wiley +1 more source
Are biochemical tests of thyroid function of any value in monitoring patients receiving thyroxine therapy? [PDF]
W D Fraser+5 more
openalex +1 more source
Odd thyroid function tests results: interference versus non-compliance [PDF]
Krzysztof C Lewandowski
core +1 more source
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek+8 more
wiley +1 more source