Results 91 to 100 of about 32,840 (255)
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz +6 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang +6 more
wiley +1 more source
Гений oртопедии, 2021 The constantly changing information about the genetic nature of osteogenesis imperfecta (OI), new approaches to classification and diagnosis, and the growing interest in this pathology require careful analysis and generalization of the available data in
Sergey O. Ryabykh +4 more
doaj +1 more source
Assessing osteoporosis in the young adult [PDF]
, 2015 Osteoporosis in the young adult is a relatively rare phenomenon, and its diagnosis needs careful assessment of the affected person. The emphasis in the assessment of bone health is gradually shifting from a simple quantitative assessment of bone mineral ...
Ahmed, Syed Faisal +2 more
core +1 more source
Molecular Oncology, Volume 19, Issue S1, Page 1-895, June 2025.Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley +1 more source
Patologìâ, 2015 Actuality. The correlation analysis between various indices of bone tissue condition was not previously carried out in patients with osteogenesis imperfecta. Aim.
V. V. Hryhorovskyi +5 more
doaj +1 more source
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients [PDF]
, 2017 Background Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains.
Koks, Sulev +5 more
core +2 more sources
Osteogenesis imperfecta in dachshunds
Veterinary Record, 2013 WE noticed the recently published paper by Eckardt and others (2013), reporting the allele frequencies of the mutation causing osteogenesis imperfecta (OI) in dachshunds. After the discovery of the OI causing mutation in the SERPINH1 gene by Drogemuller and others (2009), we also started testing the German dachshund population on a regular basis.
Schuetz, Ekkehard +4 more
openaire +3 more sources
Custom hemiarthroplasties for retention of existing hardware associated with osteogenesis imperfecta
Arthroplasty Today, 2017 Osteogenesis imperfecta is a rare genetic disorder that presents with heterogeneous phenotypes ranging from brittle bones to impaired hearing. Because of the decreased bone mineral density frequently observed in this patient population, many patients ...
Kevin Nishida, MS +2 more
doaj +1 more source
Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG) [PDF]
, 2017 Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation.
Celli, L +7 more
core +1 more source