The relationship between maternal periconceptional micronutrient supplementation and non‐syndromic cleft lip/palate in offspring
Sign Up to like & getrecommendations! Published in 2023 at "Birth Defects Research"
DOI: 10.1002/bdr2.2146
Abstract: This study aimed to explore the relationship between maternal periconceptional supplementation with folic acid only (FAO) or with multiple micronutrients containing folic acid (MMFA) and non‐syndromic cleft lip/palate in offspring. read more here.
Keywords: syndromic cleft; lip palate; cleft lip; relationship maternal ... See more keywords
Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1537
Abstract: Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations… read more here.
Keywords: chinese families; syndromic autosomal; retinitis pigmentosa; non syndromic ... See more keywords
Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1810
Abstract: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage. The c.242G>A homozygous variant in LRTOMT… read more here.
Keywords: hearing loss; variant; syndromic hearing; non syndromic ... See more keywords
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2052
Abstract: Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in >60 genes have been reported to be associated with Hereditary HL (HHL), variants of the GJB2 gene… read more here.
Keywords: hearing loss; loss; non syndromic; mutation spectrum ... See more keywords
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6253
Abstract: Reproductive genetic carrier screening (RGCS) panels often include genes associated with non‐syndromic hearing loss (NSHL) despite a lack of evidence of acceptability. Although some couples take steps to avoid having a child who is deaf,… read more here.
Keywords: genetic carrier; associated non; genes associated; carrier screening ... See more keywords
Non-syndromic single-suture craniosynostosis in triplets
Sign Up to like & getrecommendations! Published in 2018 at "Child's Nervous System"
DOI: 10.1007/s00381-018-3754-5
Abstract: IntroductionCraniosynostosis is the premature fusion of one or more cranial sutures. The cause of non-syndromic craniosynostosis has been attributed to a complex interaction among genetic, epigenetic, and environmental factors. Increased concordance rates in monozygotic twins… read more here.
Keywords: syndromic single; suture craniosynostosis; craniosynostosis; non syndromic ... See more keywords
Behavioral functioning of school-aged children with non-syndromic craniosynostosis
Sign Up to like & getrecommendations! Published in 2019 at "Child's Nervous System"
DOI: 10.1007/s00381-019-04439-y
Abstract: Purpose This study investigated the risk for children with non-syndromic craniosynostosis to develop behavioral problems during school age determined by the type of craniosynostisis, age at first surgery, and number of surgeries. Method Final sample… read more here.
Keywords: syndromic craniosynostosis; craniosynostosis; school; children non ... See more keywords
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Sign Up to like & getrecommendations! Published in 2022 at "Human genetics"
DOI: 10.1007/s00439-022-02431-2
Abstract: Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). Our series of studies demonstrated that CDH23 variants cause a broad… read more here.
Keywords: syndromic hearing; loss; non syndromic; variants cdh23 ... See more keywords
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3)
Sign Up to like & getrecommendations! Published in 2018 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-018-9665-7
Abstract: PurposeMutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound… read more here.
Keywords: non syndromic; syndromic retinal; cln3; retinal dystrophy ... See more keywords
Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss
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DOI: 10.1007/s11033-020-05618-w
Abstract: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease, for which more than 70 genes have been identified. MYO15A mutations have been reported to cause congenital severe-to-profound HL. In this study, we applied… read more here.
Keywords: syndromic hearing; hearing; non syndromic; recessive non ... See more keywords
Incidence of congenital heart diseases in Chinese children with non-syndromic congenital blepharoptosis: a prospective observational study of 1053 patients
Sign Up to like & getrecommendations! Published in 2019 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-019-00282-y
Abstract: BackgroundCongenital blepharoptosis (CBP) may be part of a large spectrum of birth defects presenting with other ocular or systemic conditions. Therefore, the aim of the study was to investigate the incidence of congenital heart diseases… read more here.
Keywords: heart diseases; incidence congenital; non syndromic; chd ... See more keywords