Results 41 to 50 of about 195,711 (263)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

Malignant Transformation in Extraoral Lichen Planus: A Systematic Review and Meta-Analysis in the Context of the Risk in Oral Lichen Planus

open access: yesDentistry Journal
Objectives: This systematic review aimed to evaluate malignant transformation (MT) in extraoral lichen planus to help contextualize the debated malignant potential of oral lichen planus in a mucocutaneous disease model.
Ana Carolina Evangelista Colafemina   +8 more
doaj   +1 more source

On the history of Romanian genitives: the prenominal genitive

open access: yesBucharest Working Papers in Linguistics, 2011
In this paper we focus on the behaviour of prenominal genitives in Old Romanian in contrast with Modern Romanian. In the old language, the prenominal genitive is more widely used and occurs in three distinct configurations: (i) it is a determiner genitive in DP-initial position and checks the definiteness feature of D in a local configuration, (ii) it ...
Alexandru Nicolae, Alexandra Cornilescu
openaire   +2 more sources

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

open access: yes
Arthritis Care &Research, EarlyView.
Catherine Deffendall   +6 more
wiley   +1 more source

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

open access: yesThe Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara   +4 more
wiley   +1 more source

Tracing the evolutionary history of the morpho‐anatomy of baculum in primates

open access: yesThe Anatomical Record, EarlyView.
Abstract Animal morphology reflects both evolutionary history and present‐day adaptation. Male mammal copulatory structures such as the baculum (penile bone) are ideal for studying these processes because of their complexity and high interspecific variability. In primates, however, research has focused mostly on baculum length.
Federica Spani   +3 more
wiley   +1 more source

Threatened fertility and gonadal function after a polytraumatic, life-threatening injury

open access: yesJournal of Emergencies, Trauma and Shock, 2010
Trauma literature regarding management of genitalia trauma affecting future fertility and gonadal function in the face of coexisting life-threatening injuries is underdeveloped.
Ward Michael   +5 more
doaj  

Male reproductive system in stenopodidean shrimps: Unveiling basal reproductive traits in shrimp‐like Pleocyemata (Stenopodidae and Spongicolidae)

open access: yesThe Anatomical Record, EarlyView.
Abstract Stenopodidea represents one of the basal lineages within Pleocyemata, yet the male reproductive system (MRS) of this group remains poorly understood, with limited information available regarding its morphology and function. This study provides the first detailed description of the MRS in four stenopodidean shrimp species from two families ...
Caio Santos Nogueira   +2 more
wiley   +1 more source

Preputial and scrotal cutaneous mast cell tumors in dogs show no evidence of inherently higher biologic malignancy

open access: yesFrontiers in Veterinary Science
Canine genital mast cell tumors (MCTs) have been associated with a poorer prognosis; however, no larger study has focused exclusively on MCTs in this region.
Žiga Žagar   +6 more
doaj   +1 more source

Home - About - Disclaimer - Privacy