Results 101 to 110 of about 66,087 (258)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source
Congenital facial nerve aplasia: MR depiction of a rare anomaly
Indian Journal of Radiology and Imaging, 2016 We report two infants presenting with unilateral congenital facial palsy since birth. Magnetic resonance imaging (MRI) in both the cases revealed complete unilateral aplasia of facial nerve.
Ishan Kumar +3 more
doaj +1 more source
Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]
, 2016 Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D. +11 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao +13 more
wiley +1 more source
, 2010 We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core +1 more source
Vena cava anomalies in thoracic surgery [PDF]
, 2018 Background: Vena cava anomalies are a rare group of anatomical variations due to an incorrect development of the superior or inferior vena cava during fetal life.
Anile, Marco +7 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source
Searching for "monogenic diabetes" in dogs using a candidate gene approach [PDF]
, 2014 BACKGROUND: Canine diabetes is a common endocrine disorder with an estimated breed-related prevalence ranging from 0.005% to 1.5% in pet dogs. Increased prevalence in some breeds suggests that diabetes in dogs is influenced by genetic factors and ...
Catchpole, B +7 more
core +3 more sources
Prenatal Diagnosis, EarlyView.ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau +10 more
wiley +1 more source
Multidisciplinary treatment of congenitally missing maxillary lateral incisors: a case report
Bioscience Journal, 2015 Congenital tooth agenesis and tooth loss due to dental traumatism are some of the most common causes leading to rehabilitation of young patients with dental implants.
Analice Giovani Pereira +7 more
doaj