Results 151 to 160 of about 2,895,342 (271)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas   +9 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini   +9 more
wiley   +1 more source

[Pamphlet from the Mosaic Press]

open access: yes
A pamphlet about a miniature book titled "Chess" from the Mosaic ...

core   +1 more source

New techniques for old bones: Morphometric and diffeomorphometric analysis of the bony labyrinth of the Reilingen and Ehringsdorf Neandertals

open access: yesThe Anatomical Record, EarlyView.
Abstract Neandertals are known to possess very distinctive traits in their bony labyrinth morphology, such as an inferiorly positioned posterior canal and a very low number of turns in the cochlea. Hence, the inner ear has been often used to assess the Neandertal status of fragmentary fossils.
Alessandro Urciuoli   +6 more
wiley   +1 more source

Much more than their fangs: Macroscopic anatomy of the brain of Bothrops moojeni Hoge 1966 (Squamata, Serpentes, Viperidae)

open access: yesThe Anatomical Record, EarlyView.
Abstract Neuroanatomical research has progressed considerably in several vertebrate lineages, yet studies of reptilian brain morphology remain markedly underdeveloped. Here we provide the first description of macroscopic brain anatomy and its ontogeny in the viperid Bothrops moojeni, based on a sample of seven individuals.
Paula Araújo   +2 more
wiley   +1 more source

Redescription of the Triassic cynodont Cistecynodon parvus and reassessment of its phylogeny

open access: yesThe Anatomical Record, EarlyView.
Abstract Cynodontia is an important subclade of Therapsida that first occurred in the late Permian. It includes extinct subclades which are the non‐mammaliaform cynodonts and Mammaliaformes, with the latter ultimately giving rise to crown mammals. The systematics of non‐mammaliaform cynodonts has been extensively studied and is relatively well‐resolved,
Erin S. Lund   +4 more
wiley   +1 more source

Evolutionary radiation of large‐bodied gorgonopsians from the lower Abrahamskraal formation of South Africa

open access: yesThe Anatomical Record, EarlyView.
Abstract The middle Permian represents a critical interval in therapsid evolution, when gorgonopsians emerged as some of the first specialized apex predators within terrestrial ecosystems. Despite their significance, the early diversification of Gorgonopsia in Gondwana remains poorly understood due to scarcity and fragmentary material.
Zanildo Macungo   +5 more
wiley   +1 more source

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