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   Articles with "phenotype correlations" as a keyword



Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study

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recommendations! Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24365

Abstract: We assessed genotype–phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47) due to USH2A variants, using clinical data and… read more here.

Keywords: ush2a related; phenotype correlations; genotype; genotype phenotype ... See more keywords
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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

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recommendations! Published in 2018 at "Movement Disorders"

DOI: 10.1002/mds.27334

Abstract: Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. read more here.

Keywords: ataxia type; spinocerebellar ataxia; genotype phenotype; phenotype correlations ... See more keywords

A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.

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recommendations! Published in 2021 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.1840

Abstract: BACKGROUND Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low-level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have… read more here.

Keywords: snptic exons; splice; phenotype correlations; snp ... See more keywords
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Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders

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recommendations! Published in 2020 at "Journal of Molecular Neuroscience"

DOI: 10.1007/s12031-020-01615-7

Abstract: TBL1XR1 is a member of the WD40 repeat-containing gene family. Mutations of TBL1XR1 have been reported in neurodevelopmental disorders (NDDs). Although the phenotypes of some patients have been described in single studies, few studies have… read more here.

Keywords: genotype phenotype; phenotype correlations; correlations tbl1xr1; tbl1xr1 neurodevelopmental ... See more keywords
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GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

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recommendations! Published in 2020 at "Bone"

DOI: 10.1016/j.bone.2020.115803

Abstract: INTRODUCTION Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here, we report… read more here.

Keywords: phenotype; genotype phenotype; phenotype correlations; analysis ... See more keywords

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

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recommendations! Published in 2017 at "Genetics in Medicine"

DOI: 10.1038/gim.2016.213

Abstract: Purpose:Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We… read more here.

Keywords: phenotype; genotype phenotype; phenotype correlations; pseudoxanthoma elasticum ... See more keywords

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

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recommendations! Published in 2025 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-025-01855-4

Abstract: Townes-Brocks syndrome (TBS, MIM#107480) is an autosomal dominant disorder linked to SALL1 alterations and characterized by a clinical triad (anorectal, thumb, and external-ear malformations), along with variable features. Renal failure and deafness can occur at… read more here.

Keywords: genotype phenotype; townes brocks; series; phenotype correlations ... See more keywords
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Genotype–phenotype correlations in recessive titinopathies

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recommendations! Published in 2020 at "Genetics in Medicine"

DOI: 10.1038/s41436-020-0914-2

Abstract: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study… read more here.

Keywords: recessive titinopathies; genotype phenotype; phenotype correlations; ttn ... See more keywords

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies

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recommendations! Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-90635-7

Abstract: Hearing loss frequently occurs in Noonan syndrome and related RASopathies (NS-RAS), with conductive hearing loss being common. However, the genotypic and phenotypic features of sensorineural hearing loss (SNHL) in NS-RAS, as well as genotype-phenotype correlations,… read more here.

Keywords: loss; related rasopathies; hearing loss; syndrome related ... See more keywords

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

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recommendations! Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac182

Abstract: Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations… read more here.

Keywords: phenotype correlations; phenotype; novo variants; hsp atl1 ... See more keywords

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

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recommendations! Published in 2019 at "British Journal of Haematology"

DOI: 10.1111/bjh.16100

Abstract: Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron‐sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort… read more here.

Keywords: genotype phenotype; sideroblastic anaemia; phenotype correlations; congenital sideroblastic ... See more keywords