Results 211 to 220 of about 406,691 (285)

Craniofacial Morphology and Dental Age Assessment in Pediatric Craniosynostosis: A Comparative Cross‐Sectional Study

Clinical and Experimental Dental Research, Volume 12, Issue 5, October 2026.
ABSTRACT Objectives To delineate the craniofacial morphometric characteristics of Thai children with syndromic (SC) and non‐syndromic craniosynostosis (NSC) and to assess dental maturation relative to Chronological Age (CA). Methods This comparative cross‐sectional study evaluated 19 patients (SC: n = 13; NSC: n = 6; mean age 9.32 ± 2.67 years ...
Nutthakarn Ratanasereeprasert, Yanisa Wongbanthit, Narin Intarak, Preeya Suwanwitid, Chutimont Teekavanich, Anand Marya, Guang Hong, Thantrira Porntaveetus   +7 more
wiley   +1 more source

Human biomarker navigator

iMeta, Volume 5, Issue 5, October 2026.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading. [PDF]

Am J Physiol Cell Physiol
Harissa Z, Kim Y, Dicks AR, Steward N, Guilak F.   +4 more
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, Volume 40, Issue 19, October 2026.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Skeletal dysplasias

Donald School Journal of Ultrasound in Obstetrics and Gynecology
Kenneth Ward, Pamela Grant
openaire   +2 more sources

The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study. [PDF]

Orphanet J Rare Dis
Lai JHJ, Ireland P, Nguyen D, Woodbury A, Pacey V.   +4 more
europepmc   +1 more source

Mild generalised hypermobility (Beighton score ≥2) is the most accurate preoperative indicator of intraoperatively‐confirmed microinstability in 622 primary hip arthroscopies

Journal of Experimental Orthopaedics, Volume 13, Issue 4, October 2026.
Abstract Purpose To identify the preoperative diagnostic accuracy of routine hip arthroscopy clinical assessments for intraoperatively confirmed microinstability. Methods Image indices, clinical assessments and operation details from 622 consecutive primary hip arthroscopies undertaken by a single surgeon between January 2018 and December 2020 were ...
Catherine J. Bacon, Rowan P. Auchterlonie, Rebecca M. Woodward, Gen Lin Foo, Man Lu, Renuka M. Vesey, Matthew J. Brick   +6 more
wiley   +1 more source

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia. [PDF]

J Clin Immunol
Mehta SS, Wash U./N. I. H. EXTL3 Consortium, Bosticardo M, Notarangelo LD, Kitcharoensakkul M.   +4 more
europepmc   +1 more source

Atypical Presentation of UBE2T‐Related Fanconi Anemia With Immune‐Mediated Thrombocytopenia and Hematopoietic Somatic Mosaicism: A Case Report

eJHaem, Volume 7, Issue 5, October 2026.
ABSTRACT Fanconi anemia (FA) is a genetically heterogeneous disorder of chromosome instability leading to bone marrow failure (BMF) and other manifestations. We report a case of FA in which two atypical features initially obscured the diagnosis: the presence of T cell‐mediated thrombocytopenia, and somatic mosaicism leading to normal chromosome ...
Bridget T. Kiely, Alison A. Bertuch
wiley   +1 more source