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Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.
Birth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.
Aims: This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.
Materials And Methods: We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis.
Surgical outcomes of radial polydactyly according to a modified Wassel-Flatt classification: A retrospective study of 211 patients with 223 thumbs.
J Hand Surg Eur Vol
January 2025
Department of Orthopedic Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic Road 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
We previously introduced the modified Wassel-Flatt classification to overcome the limitation of the traditional classification for radial polydactyly. This study aimed to evaluate this modified classification in terms of surgical planning and clinical outcomes using the Japanese Society for Surgery of the Hand scoring system. A retrospective review of 211 patients with 223 thumbs treated for radial polydactyly between October 2017 and November 2022 was conducted.
View Article and Find Full Text PDFRapid and quantitative functional interrogation of human enhancer variant activity in live mice.
Nat Commun
January 2025
Department of Developmental and Cell Biology, University of California, Irvine, CA, USA.
Functional analysis of non-coding variants associated with congenital disorders remains challenging due to the lack of efficient in vivo models. Here we introduce dual-enSERT, a robust Cas9-based two-color fluorescent reporter system which enables rapid, quantitative comparison of enhancer allele activities in live mice in less than two weeks. We use this technology to examine and measure the gain- and loss-of-function effects of enhancer variants previously linked to limb polydactyly, autism spectrum disorder, and craniofacial malformation.
View Article and Find Full Text PDFAdvances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.
Prenat Diagn
January 2025
Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.
Objective: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort.
Method: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated, associated with other anomalies, or syndromic.
A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.
Clin Genet
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London, UK.
Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.
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