Results 91 to 100 of about 4,012 (251)
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Prenatal Diagnosis, Volume 45, Issue 3, Page 276-286, March 2025.Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy +9 more
wiley +1 more source
New Spontaneous Model of Fibrodysplasia Ossificans Progressiva [PDF]
, 2008 We report the first known example of spontaneous, naturally occurring fibrodysplasia ossificans progressiva (FOP) in a mammal. The Southeast Asian mouse deer of the genus _Tragulus_ (Artiodactyla: Tragulidae) have an osseous sheath covering the lower ...
Bruce Rothschild +2 more
core +1 more source
Genome scan reveals several loci associated with torus palatinus
Orthodontics &Craniofacial Research, Volume 28, Issue 1, Page 159-165, February 2025.Abstract Objective Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.
Myoung Keun Lee +14 more
wiley +1 more source
A novel nonsense mutation of EXT1 gene in an Argentinian patient with Multiple Hereditary Exostoses [PDF]
, 2012 Multiple hereditary exostoses (MHE), also known as multiple osteochondromatosis, is an autosomal-dominant O-linked glycosylation disorder recently classified as EXT1/EXT2-CDG in the congenital disorder of glycosylation (CDG)nomenclature.
Asteggiano, Carla Gabriela +9 more
core +1 more source
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
Prague Medical Report, 2017 Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek +9 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui +12 more
wiley +1 more source
Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management [PDF]
, 2004 Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Bovée, Judith VMG +4 more
core +4 more sources
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients
BMC Medical Genetics, 2017 Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li +4 more
doaj +1 more source
Familiäre Tumorerkrankungen im Knochen [PDF]
, 2018 Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
core
Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2016 Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj