Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23605
Abstract: Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu‐Alu fusion events, in… read more here.
Keywords: ift81 protein; alu; duplication; alu alu ... See more keywords
Growth Topics in FGFR3-Related Skeletal Dysplasias
Sign Up to like & getrecommendations! Published in 2021 at "Current Treatment Options in Pediatrics"
DOI: 10.1007/s40746-021-00222-x
Abstract: Purpose of Review Describe growth at different periods of life to understand the effects of genetic impairment in FGFR3- related conditions. We hope this data will be used to compare different populations and the effects… read more here.
Keywords: topics fgfr3; fgfr3 related; related skeletal; growth topics ... See more keywords
Skeletal dysplasias screening by NIPT for single‐gene disorders: Clinical value of narrowing the differential diagnosis: 912
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Obstetrics and Gynecology"
DOI: 10.1016/j.ajog.2018.11.936
Abstract: Inclusion criteria were EFWD 20% before 27 weeks and adequate ultrasound (US) information to assess for interval growth until delivery, defined as last US within 5 weeks of delivery. We excluded those with major structural… read more here.
Keywords: diagnosis; degree efwd; dysplasias screening; skeletal dysplasias ... See more keywords
Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features.
Sign Up to like & getrecommendations! Published in 2020 at "Fetal and pediatric pathology"
DOI: 10.1080/15513815.2020.1761915
Abstract: Aim: We evaluated the diagnostic accuracy of ultrasound, postmortem and genetic studies in classifying skeletal dysplasias in the first vs second trimester of pregnancy. Methods: We retrospectively gathered data from a 15 year period of all… read more here.
Keywords: genetics; first second; year; second trimester ... See more keywords
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13976
Abstract: Skeletal dysplasias (SDs) are common birth defects, but they are difficult to diagnose accurately according to only the limited phenotypic information available from ultrasound during the pregnancy. To evaluate the application of whole‐exome sequencing (WES)… read more here.
Keywords: exome sequencing; diagnosis; whole exome; molecular diagnosis ... See more keywords
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.845889
Abstract: Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are still incompletely… read more here.
Keywords: empty sella; osteochondrodysplasia empty; skeletal dysplasias; sella ... See more keywords
Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1020475
Abstract: The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging… read more here.
Keywords: lamin; gene; skeletal dysplasias; prenatal diagnosis ... See more keywords
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13010137
Abstract: The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic… read more here.
Keywords: associated skeletal; clinical genetic; genetic characteristics; skeletal dysplasias ... See more keywords
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.37766/inplasy2023.5.0048
Abstract: Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing has rapidly revolutionized molecular diagnostic approaches in fetuses with structural anomalies. This review… read more here.
Keywords: yield exome; skeletal dysplasias; diagnostic yield; sonographic features ... See more keywords