Results 61 to 70 of about 67,445 (255)

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Camille Verebi, Victor Gravrand, Claire Guerini, Olivia Anselem, Nicolas Vaucouleur, Lucie Orhant Boimard, Rachida Ben Ouazzou, Ceren Demirtas, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Emmanuelle Pannier, Juliette Nectoux   +12 more
wiley   +1 more source

Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

Orphanet Journal of Rare Diseases
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness.
L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang, M. Mordenti   +6 more
doaj   +1 more source

Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders

Clinical Genetics, EarlyView.
Avascular Necrosis (AVN) and Minimal Trauma Fractures (MTF) cause significant morbidity in people with Telomere Biology Disorders (TBDs). They occur more frequently in young patients and in those with autosomal recessive (AR) or X‐linked recessive (XLR) than in autosomal dominant (AD) genotypes.
Arman M. Niknafs, Neelam Giri, Marena R. Niewisch, Sharon A. Savage   +3 more
wiley   +1 more source

Mild early course of osteogenesis imperfecta type XIV - a case report

Biomedicinska istraživanja, 2022
Introduction. Mutations in TMEM38B gene, which encodes the endoplasmatic reticulum membrane trimeric intracellular cation channel (TRIC) type B, cause osteogenesis imperfecta type XIV.
Nikola Georgijev, Slobodan Gazikalović, Zoran Paunović, Nikola Ilić, Adrijan Sarajlija   +4 more
doaj   +1 more source

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

Frontiers in Genetics, 2019
Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ
L. Zhytnik, K. Maasalu, A. Pashenko, S. Khmyzov, E. Reimann, E. Prans, S. Kõks, A. Märtson   +7 more
semanticscholar   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

Orphanet Journal of Rare Diseases
Introduction Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms.
Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen   +4 more
doaj   +1 more source

Severely impaired bone material quality in Chihuahua zebrafish resembles classical dominant human osteogenesis imperfecta

bioRxiv, 2018
Excessive skeletal deformations and brittle fractures in the vast majority of patients suffering from osteogenesis imperfecta (OI) are a result of substantially reduced bone quality.
I. Fiedler, F. Schmidt, Christine Plumeyer, P. Milovanović, R. Gioia, F. Tonelli, A. Forlino, B. Busse   +7 more
semanticscholar   +1 more source

Otopathology in Osteogenesis Imperfecta [PDF]

Otology & Neurotology, 2012
Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen. The hearing loss in OI is characterized by onset in early adulthood and can be conductive, sensorineural, or mixed.To describe the temporal bone histopathology in 9 individuals with OI.Four adult, 1 pediatric, and 4 ...
Andrew A. McCall, Felipe Santos, Saumil N. Merchant, Wade W. Chien   +3 more
openaire   +2 more sources

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe, Shuhei Higashi, Nobuaki Himuro   +2 more
wiley   +1 more source