Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Surgical and Radiologic Anatomy"
DOI: 10.1007/s00276-018-2137-7
Abstract: The CHARGE syndrome characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genitourinary hypoplasia, and ear anomalies is one of the rare syndromes. Although certain clinical issues (scapular winging, sloping shoulder, Sprengel’s deformity,… read more here.
Keywords: muscular abnormalities; fetal cadaver; charge syndrome; charge ... See more keywords
Occipital teratoma in a neonate with CHARGE syndrome: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Child's Nervous System"
DOI: 10.1007/s00381-019-04433-4
Abstract: Introduction Teratomas of the head and neck region are rare lesions, representing just 5% of all congenital teratomas. Usually found in the pineal region orneurohypophysis, teratomas are uncommonly located in the posterior occiput. Case Presentation… read more here.
Keywords: charge syndrome; lesion; occipital teratoma; case ... See more keywords
N° 268-Diagnostic et prise en charge du syndrome d'hyperstimulation ovarienne.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC"
DOI: 10.1016/j.jogc.2017.09.004
Abstract: la présente directive clinique a été rédigée par le comité sur les directives cliniques communes Société des obstétriciens et gynécologues du canada-Société canadienne de fertilité et d’andrologie, analysée par le comité sur l’endocrinologie de la… read more here.
Keywords: par; par comit; charge syndrome; diagnostic prise ... See more keywords
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.197
Abstract: PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and… read more here.
Keywords: charge syndrome; charge; chh; hypogonadotropic hypogonadism ... See more keywords
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0465-7
Abstract: CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes a chromodomain protein, involved in the ATP-dependent remodeling of chromatin. The… read more here.
Keywords: expression; charge syndrome; study; chd7 protein ... See more keywords
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14363
Abstract: CHARGE syndrome, due to CHD7 pathogenic variations, is an autosomal dominant disorder characterized by a large spectrum of severity. Despite the great number of variations reported, no clear genotype-to-phenotype correlation has been reported. Unsupervised machine… read more here.
Keywords: charge syndrome; phenotype; phenotype correlation; genotype phenotype ... See more keywords
Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of anatomy"
DOI: 10.1111/joa.13856
Abstract: CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital anomalies and Ear abnormalities) syndrome is a disorder caused by mutations in the gene encoding CHD7, an ATP dependent chromatin… read more here.
Keywords: charge syndrome; model charge; mouse model; white matter ... See more keywords
Short Sleep Duration and Obesity Among Children
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13729
Abstract: two or three times due to a high failure rate. Late dumping syndrome has not been previously reported in the CHARGE syndrome literature. Its presentation may be unique in CHARGE syndrome, with symptoms presenting up… read more here.
Keywords: late dumping; sleep duration; charge syndrome; charge ... See more keywords
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-233037
Abstract: We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with… read more here.
Keywords: novel; syndrome patient; charge syndrome; charge ... See more keywords
A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Neonatology"
DOI: 10.1159/000506165
Abstract: CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. CHD7 mutation is related to CHARGE syndrome that shows various phenotypes according to the CHD7 variant. Developments in genetic analysis techniques,… read more here.
Keywords: charge syndrome; chd7; charge; chd7 variant ... See more keywords
De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "ORL"
DOI: 10.1159/000520376
Abstract: Introduction: CHARGE syndrome (CS, OMIM 214800) is a rare genetic disease characterized by multiple congenital abnormalities, including coloboma, heart defect, atresia of the choanae, retardation of development, genital anomalies, and ear anomalies/deafness. The syndrome is… read more here.
Keywords: charge syndrome; variant; chd7 gene; splice site ... See more keywords