Results 51 to 60 of about 2,286 (158)

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. [PDF]

PLoS ONE, 2011
The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular).
Neus Martínez-Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T Richtsmeier   +5 more
doaj   +1 more source

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of ...
Xiaona Lu, MD, Rajendra Sawh-Martinez, MD, MHS, Antonio Jorge Forte, MD, Robin Wu, BS, Raysa Cabrejo, BS, Alexander Wilson, BS, Derek M. Steinbacher, MD, DMD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +9 more
doaj   +1 more source

Divergent Mechanisms of Cranial Suture Ossification in Normal Development and Pathologic Fusion

Journal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Cranial sutures are dynamic growth sites that balance bone growth with mesenchymal patency to accommodate cranial expansion during development. While intramembranous ossification has traditionally been considered the default mechanism of suture fusion, accumulating evidence demonstrates that endochondral pathways might also play a significant ...
Anvith Reddy, Sarah Qaddo, Penny Li, Barite Gautama, Erin Abbott, Yomna Dean, Anna Means, Michael Golinko, Christopher Bonfield, Wesley Thayer, Galen Perdikis, Matthew Pontell   +11 more
wiley   +1 more source

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BMC Medical Genetics, 2011
Background Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with ...
Klatt Regan EM, Bowdin Sarah C, Fenwick Aimee L, Wilkie Andrew OM   +3 more
doaj   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Apert syndrome

Revista de Ciencias Médicas de Pinar del Río, 2017
Introduction: Apert Syndrome is an autosomal dominant disorder, this defect is caused by a spontaneous mutation, which affects receptor 2 of the fibroblast growth factor.
Elsa Camargo Luaces, Zulema Serrano Figueroa   +1 more
doaj  

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Pterygoid bone malformation and its limitations on the effectiveness of brachycephalic airway corrective surgery in brachycephalic dogs

Journal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.
Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen, M. A. Genain, J. F. Ladlow, N.‐C. Liu   +3 more
wiley   +1 more source

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Frontiers in Genetics, 2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome ...
Yahong Li, Dingyuan Ma, Yun Sun, Lulu Meng, Yanyun Wang, Tao Jiang   +5 more
doaj   +1 more source