Results 211 to 220 of about 41,570 (260)

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa   +4 more
wiley   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger   +3 more
wiley   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

open access: yesThe Anatomical Record, Volume 308, Issue 12, Page 3157-3174, December 2025.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller   +2 more
wiley   +1 more source

Review of the anatomical basis for predicting plutonium alpha particle radiation induced osteogenic cancers

open access: yesThe Anatomical Record, Volume 308, Issue 12, Page 3197-3229, December 2025.
Abstract Plutonium was discovered and first synthesized in the early 1940's. Several isotopes of plutonium are used in nuclear technologies, 238Pu for heat generation and 239Pu for energy production and weapons. Both isotopes emit alpha particles, which pose a significant radiation hazard when incorporated into the body.
Scott C. Miller
wiley   +1 more source

Morphology and function of pinniped necks: The long and short of it

open access: yesThe Anatomical Record, Volume 308, Issue 12, Page 3175-3185, December 2025.
Abstract Terrestrial vertebrates from at least 30 distinct lineages in both extinct and extant clades have returned to aquatic environments. With these transitions came numerous morphological adaptations to accommodate life in water. Relatively little attention has been paid to the cervical region when tracking this transition.
Justin Keller   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy