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
Biallelic Mutations in the Otogelin‐Like Gene ( OTOGL ) Associated With Congenital Non‐Syndromic Sensorineural Hearing Loss in a Chinese Family
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70122
Abstract: Hearing loss, characterized by significant genetic heterogeneity, is a widespread global disorder. Mutations in the OTOG and OTOGL genes have recently been implicated in non‐syndromic sensorineural hearing loss. However, the mutation spectrum of OTOGL and… read more here.
Keywords: loss; non syndromic; sensorineural hearing; hearing loss ... 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
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
Sign Up to like & getrecommendations! Published in 2024 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-024-08492-5
Abstract: Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly… read more here.
Keywords: non syndromic; spectrum patients; hearing loss; mutational spectrum ... 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