Results 151 to 160 of about 78,325 (258)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

Isolation, Characterization and Optimization of Pigment-producing Bacteria from Different Sources in Ogwa, Esan West Local Government Area, Edo State, Nigeria

open access: yesJournal of Applied Sciences and Environmental Management
Staphylococcus species have capability to produce pigments such as carotenoids, melanin and staphloxanthin which can be used in the applications of industries such as food, pharmaceuticals and cosmetics. Hence, the objective of this paper was to isolate,
T. S. Okanlawon   +6 more
doaj  

Comparison of rat hypertrophic scar models: Caudal tension model with superior pathological consistency

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study compared hypertrophic scar (HS) formation in SD rats at ear, back, and tail sites with or without mechanical tension. The ear model healed spontaneously by day 30. Dorsal full‐thickness excision (1 × 8 cm) produced moderate HS. In contrast, the tail tension model showed the greatest scar thickness, fibroblast density, collagen deposition ...
Lingyi Zhan   +10 more
wiley   +1 more source

Layer-by-layer decoding of contemporary and historic painting composition using MALDI mass spectrometry imaging and machine learning. [PDF]

open access: yesSci Adv
Krupička V   +7 more
europepmc   +1 more source

Safety and Feasibility of Magnetic Separation‐Based Blood Purification

open access: yesAdvanced NanoBiomed Research, EarlyView.
We present the preclinical biological safety and translational feasibility of a magnetic nanoparticle‐based extracorporeal blood purification platform for removal of disease‐causing blood factors. ISO 10993‐compliant studies and exaggerated worst‐case exposure models demonstrate efficient nanoparticle extraction (≥99.9%), favorable biocompatibility ...
Carlos A. Mora   +11 more
wiley   +1 more source

Axillary Lymph Node Calcifications due to Tattoo Pigment: A Radiologic-Pathologic Correlation. [PDF]

open access: yesEur J Breast Health
López-Herrero M   +4 more
europepmc   +1 more source

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