Results 41 to 50 of about 32,840 (255)

Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature. [PDF]

, 2018
The restrictive lung disease can be exacerbated by growing fundus in women with osteogenesis imperfecta type III. Regional anesthesia can be performed in these women.
Al-Kouatly, Huda B., Fries, Melissa, Kawakita, Tetsuya, Singh, Jasbir   +3 more
core   +1 more source

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation [PDF]

, 2009
: Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein.
Coucke, Paul, De Paepe, Anne, Gevaert, Kris, Kayserili, H., Leroy, J. G., Malfait, Fransiska, Megarbane, A., Mortier, Geert, Symoens, Sofie, Willaert, Andy   +9 more
core   +2 more sources

Human interparietal bones: Examination of existing classification schemes and development of a graphic library depicting variations

The Anatomical Record, EarlyView.
Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson, Rhian R. Dunn, Joseph T. Hefner, Holly A. Long, Micayla C. Spiros   +4 more
wiley   +1 more source

A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta [PDF]

, 2004
We report a unique case of unilateral cerebellar hypoplasia in a young Chinese girl with osteogenesis imperfecta type IV. Magnetic resonance imaging showed mild basilar invagination and impression.
Khong, PL, Ooi, GC, Wong, KY, Zhou, LJ
core  

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. [PDF]

, 2016
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone ...
Aubry-Rozier, B., Bonafé, L., Bregou Bourgeois, A., Laurent-Applegate, L., Pioletti, D.P., Zambelli, P.Y.   +5 more
core   +2 more sources

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

Medication‐Related Osteonecrosis of the Jaws in Patients on Antiresorptive Medication With Dental Implants. A Scoping Review

Clinical Oral Implants Research, EarlyView.
ABSTRACT Objectives Patients receiving antiresorptive medication (AR) for osteoporosis or cancer are at risk of medication‐related osteonecrosis of the jaws (MRONJ), especially after surgical procedures. Dental implant (DI) placement in high‐dose AR (HDAR) patients is widely discouraged, and thorough counseling is recommended for low‐dose AR (LDAR ...
Sanne Werner Moeller Andersen, Nishma Vandvig Hindocha, Iben Poulsen, Henning Schliephake, Simon Storgård Jensen   +4 more
wiley   +1 more source

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Orphanet Journal of Rare Diseases
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch   +9 more
doaj   +1 more source

Dentinogenesis imperfecta [PDF]

, 2018
Zusammenfassung: Unter Dentinogenesis imperfecta versteht man eine kongenitale Dysplasie des Dentins, die isoliert oder im Zusammenhang mit einer hereditären Allgemeinerkrankung wie der Osteogenesis imperfecta auftreten kann.
Schulte, J.M., van Waes, H.
core  

De Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus

Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half‐sibs with a complex syndrome including CP were identified. Hypothesis/Objectives Characterize disease phenotype and evaluate the genetic cause of the observed syndrome.
Marilena Bolcato, Giovanni Romito, Irene M. Häfliger, Arcangelo Gentile, Cord Drögemüller, Joana G. P. Jacinto   +5 more
wiley   +1 more source