Results 51 to 60 of about 2,768 (208)

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, Volume 66, Issue S2, Page 121-143, December 2025.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

The role of bronchoscopy in the management of patients with severe craniofacial syndromes

, 2012
Purpose The purpose of this study is to assess the incidence of airway anomalies in children with severe craniofacial syndromes and to establish the role of bronchoscopy in the care of these patients.
Antón-Pacheco Sánchez, Juan Luis, Romance García, Ana, Martínez Gimeno, Antonio, Martín de la Vega, Rubén, Luna Paredes, María Carmen, García Hernández, María Gloria   +5 more
core   +1 more source

A rare case of fronto-nasal dystosis with multiple dysmorphic features: comprehensive genetic analysis using whole genome sequencing

Journal of Rare Diseases
Frontonasal dysostosis (FND) is a rare congenital disorder characterized by craniofacial abnormalities with diverse clinical characteristics. We report a four-year-old male with clinical characteristics related to frontonasal dysostosis, including ...
Sanjukta Sahoo, Deepak Jena, Mamuni Swain, Bhawna Gupta, Ravi Kant Narayan, Prabhas Ranjan Tripathy, Arun Kumar S, Manisha Rajanand Gaikwad, Sunil Kumar Raghav   +8 more
doaj   +1 more source

Spring-mediated skull expansion: overall effects in sutural and parasutural areas. An experimental study in rabbits Expansão craniana com molas: efeitos globais nas áreas suturais e parassuturais. Estudo experimental em coelhos

Acta Cirúrgica Brasileira, 2010
PURPOSE: The use of springs in cranial expansion has proven to be effective in the treatment of craniosynostosis. Spring-mediated expansion has been studied both in the sagittal and in parasagittal regions, especially in scaphocephaly. A rabbit model was
Rodrigo de Faria Valle Dornelles, Vera Lúcia Nocchi Cardim, Marília Trierveiler Martins, Ana Carolina Brandão de Campos Fonseca Pinto, Nivaldo Alonso   +4 more
doaj   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Atresia coanal: análise de 17 casos. [PDF]

, 2000
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Monteiro, Fernanda Maia
core  

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, Volume 12, Issue 32, August 28, 2025.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Morphological characterization of zygomatic arch, maxilla and mandible in subjects with dysostosis mandibulofacial

, 2016
Introdução: as disostoses mandibulofaciais representam um grupo de condições geneticamente heterogêneas, caracterizado principalmente por hipoplasia de arco zigomático, hipoplasia mandibular e anomalias de orelhas.
Moura, Priscila Padilha
core   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source