Apert syndrome is an autosomal dominant disorder characterized by malformations of the
skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast …

Purpose: The purpose of this study was to evaluate the face and content validity of a modified
self-report questionnaire adapted from previous studies’ questionnaires. The modified …

We evaluated 25 intraductal papillomas and 18 papillary carcinomas (invasive, 4;
micropapillary ductal carcinoma in situ [DCIS], 5; cases originally classified as intracystic/intraductal …

Background Apert syndrome is characterized by craniosynostosis and limb abnormalities
and is primarily caused by FGFR2 +/P253R and +/S252W mutations. The former mutation is …

Germline pathogenic variants in DNMT3A were recently described in patients with
overgrowth, obesity, behavioral, and learning difficulties (DNMT3AOvergrowth Syndrome/DOS). …

Background: Item response theory (IRT) is increasingly being applied to health-related
quality of life instrument development and refinement. This article discusses results obtained …

Mutations in DNA methyltransferase 3A (DNMT3A) have been detected in autism and related
disorders, but how these mutations disrupt nervous system function is unknown. Here, we …

Described as a highly reliable method of sex identification, mandibular ramus flexure is a
morphological trait expressed on the posterior border of the ramus at the occlusal plane ( Loth …

Acute changes in urinary excretion of nitrite + nitrate do not necessarily predict renal vascular
NO production. NO 2 + NO 3 (NO x ), the stable oxidation products of NO, and cGMP are …

Background and Objectives Histologic margin positivity represents a significant source of
adverse clinical outcome affecting breast conservation therapy for in situ or invasive …