Results 61 to 70 of about 158,214 (317)

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam   +4 more
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay   +5 more
wiley   +1 more source

Three cases of ectopic sphenoid sinus pituitary adenoma

open access: yes, 2017
Introduction : Ectopic sphenoid sinus pituitary adenoma is a rare tumour originating from embryologic remnants of Rathke’s pouch. Although it is considered a clinically benign neoplasm, necrosis is encountered in 25% of cases and it can invade adjacent ...
Ludomir Stefańczyk   +4 more
core   +1 more source

Steroid profiling using liquid chromatography mass spectrometry during adrenal vein sampling in patients with primary bilateral macronodular adrenocortical hyperplasia

open access: yesFrontiers in Endocrinology, 2022
IntroductionAdrenal vein sampling (AVS) is not a routine procedure in patients with primary bilateral macronodular adrenocortical hyperplasia (PBMAH), but has been used to determine lateralization of cortisol secretion in order to guide decision of ...
Ru Zhang   +15 more
doaj   +1 more source

Pituitary Adenomas

open access: yesTopics in Magnetic Resonance Imaging, 2005
Pituitary adenomas are by far the most common sellar tumor and magnetic resonance imaging is the modality of choice for their detection and characterization. However, most of these neoplasms are asymptomatic and frequently incidentally visualized.
openaire   +3 more sources

Adenoma alveolar Alveolar adenoma

open access: yesJornal Brasileiro de Pneumologia, 2006
O adenoma alveolar é uma neoplasia benigna rara dos pulmões, com poucos casos descritos na literatura. Freqüentemente, o paciente é assintomático e apresenta-se com um achado acidental em telerradiografias de tórax de um nódulo solitário e bem circunscrito.
Eduardo Haruo Saito   +5 more
openaire   +1 more source

Imaging features of bile duct adenoma: case series and review of literature [PDF]

open access: yes, 2018
PURPOSE:We aimed to evaluate the imaging features of bile duct adenoma (BDA) on ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI).METHODS:Retrospective search in our institution database was performed for histologically
Jeffrey A. Chuy   +4 more
core   +1 more source

Nodular Fasciitis of the Parotid Gland Mimicking Pleomorphic Adenoma: Cytological Features of a Diagnostic Pitfall

open access: yesDiagnostic Cytopathology, EarlyView.
ABSTRACT Nodular fasciitis (NF) is a self‐limiting mesenchymal neoplasm that typically occurs in the subcutaneous tissue of the extremities, trunk, and head and neck region; involvement of the parotid gland is very rare. The cytological features of NF can closely mimic those seen in salivary gland neoplasms, particularly pleomorphic adenoma (PA ...
Xiaobing Jin   +4 more
wiley   +1 more source

Understanding the Symptom Burden of Complex Skull Base Tumors From the Patient's Perspective

open access: yesHead &Neck, EarlyView.
ABSTRACT Background Symptom burden of skull base tumor (SBT) patients, especially those undergoing multimodality treatment, is poorly understood. We aim to understand symptom burden in this patient group using the core module the MD Anderson Symptom Inventory (MDASI).
Shirley Y. Su   +8 more
wiley   +1 more source

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