Results 61 to 70 of about 16,798 (239)

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

open access: yes, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

Composition‐Aware Cross‐Sectional Integration for Spatial Transcriptomics

open access: yesAdvanced Intelligent Discovery, EarlyView.
Multi‐section spatial transcriptomics demands coherent cell‐type deconvolution, domain detection, and batch correction, yet existing pipelines treat these tasks separately. FUSION unifies them within a composition‐aware latent framework, modeling reads as cell‐type–specific topics and clustering in embedding space.
Qishi Dong   +5 more
wiley   +1 more source

A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. [PDF]

open access: yesPLoS ONE, 2014
The first white Doberman pinscher (WDP) dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring.
Paige A Winkler   +6 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility [PDF]

open access: yes, 2017
The role of genetic polymorphisms in pediatric brain tumor (PBT) etiology is poorly understood. In this study, we tested the hypothesis that single nucleotide polymorphisms identified by genome-wide association studies on adult glioma are also associated
Adel Fahmideh, Maral   +11 more
core   +1 more source

Intraocular Medulloepitheliomae (Clinical Case Series)

open access: yesOftalʹmologiâ, 2020
Purpose. Retrospective analysis of clinical, instrumental, cytological and pathological features of intraocular medulloepithelioma based on our own experience in the period from 2005 to 2018. Patients and Methods.
S. V. Saakyan   +7 more
doaj   +1 more source

Focal Spot, Summer 1999 [PDF]

open access: yes, 1999
https://digitalcommons.wustl.edu/focal_spot_archives/1082/thumbnail ...

core   +1 more source

Tolerability and efficacy of chemosaturation in combination with systemic therapy for metastatic uveal melanoma

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Uveal melanoma is the most common primary intraocular cancer in adults, and up to half of patients develop metastatic disease, predominantly in the liver, where prognosis remains poor despite promising treatment options. In this study, the authors evaluated the safety and efficacy of administering systemic therapy within 40 days of liver ...
Patrick Kasteleiner   +4 more
wiley   +1 more source

Visual impairment due to bilateral multifocal choroidal metastasis of parotid adenocarcinoma: a case report.

open access: yesFrontiers in Oncology, 2014
BackgroundOrbital metastases are an uncommon finding, being present in just 9% deceased patients with metastatic cancer. Only a quarter of patients with choroidal metastases have bilateral disease.
Gerard eWalls   +2 more
doaj   +1 more source

Minimal contribution of ERK1/2-MAPK signalling towards the maintenance of oncogenic GNAQ(Q209P)-driven uveal melanomas in zebrafish [PDF]

open access: yes, 2016
Mutations affecting Gαq proteins are pervasive in uveal melanoma (UM), suggesting they ‘drive’ UM pathogenesis. The ERK1/2-MAPK pathway is critical for cutaneous melanoma development and consequently an important therapeutic target.
Coupland, Sarah E   +3 more
core   +2 more sources

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