Results 71 to 80 of about 10,063 (203)
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 777-789, April 2026.ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales +13 more
wiley +1 more source
American Journal of Roentgenology, 1967 L O, Langer, P A, Baumann, R J, Gorlin
openaire +3 more sources
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]
, 2016 OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS +6 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe +2 more
wiley +1 more source
Finding the GEMSS in Schools. [PDF]
, 2014 Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
core +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Samaneh Parviz, Dariush Hooshyar
wiley +1 more source
Transcriptional Profiling of PRKG2-Null Growth Plate Identifies Putative Down-Stream Targets of PRKG2 [PDF]
, 2015 Kinase activity of cGMP-dependent, type II, protein kinase (PRKG2) is required for the proliferative to hypertrophic transition of growth plate chondrocytes during endochondral ossification.
Cooper, Vickie +5 more
core +3 more sources
Health Science Reports, Volume 9, Issue 4, April 2026.ABSTRACT Background Factors such as maternal demographics, anthropometrics, health status, and lifestyle are known to have direct associations with newborn birth weight. However, there is an indication that umbilical cord size measured using ultrasonography could potentially be a predictor of birth weight.
Swallah Alhaji Suraka +4 more
wiley +1 more source
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
American Journal of Perinatology Reports, 2017 Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during
Kimberly E. Fagen +3 more
doaj +1 more source