Results 41 to 50 of about 9,046 (221)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
, 2011 Binder's Syndrome also known as Maxillo-Nasal Dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear.
Babu, SG +3 more
core
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7 [PDF]
, 2016 BackgroundThe reduced cost and improved efficiency of whole genome sequencing (WGS) is drastically improving the development of cats as biomedical models.
Alhaddad, Hasan +8 more
core +3 more sources
Orthodontics &Craniofacial Research, EarlyView.ABSTRACT Objectives To develop a deep learning‐based framework to automate sector classification of unerupted maxillary canines (UMCs), assessing its accuracy and reliability compared to human ones. Material and Methods One thousand five hundred twenty‐eight UMCs from digital panoramic radiographs (PRs) were selected using data from the Dental ...
Marzio Galdi +7 more
wiley +1 more source
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome
Case Reports in Orthopedics, 2017 Ischiospinal Dysostosis (ISD) is a complex and very rare medical entity. It is associated with kyphoscoliosis, dysplasia or aplasia of the ischial rami, segmental anomalies of the bony vertebrae, and peculiar facial morphologies.
Mahmoud Almasri +5 more
doaj +1 more source
Journal of Orofacial Sciences, 2013 Acrofacial dysostosis (AFD) is a generic name for a variety of different but possibly related genetic disorders that result in craniofacial and limb malformations and are, therefore, categorized under oroacral disorders.
Arpita Rai +3 more
doaj +1 more source
Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]
, 2018 Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush +3 more
core +1 more source
The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]
, 2016 Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A. +3 more
core +3 more sources
Orthodontics &Craniofacial Research, EarlyView.ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng +2 more
wiley +1 more source