Results 81 to 90 of about 97,105 (315)

Hypoplasia of all paranasal sinuses A case series and Literature review

open access: yes, 2012
Hypoplasia of maxillary sinus is a rather rare condition. Review of literature reveal that so far only 6 cases have been reported. Hypoplasia of frontal and sphenoid sinuses has beendocumented rather frequently.
Narashiman, Seethalakshmi; Stanley Medical College   +1 more
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Variation of Posterior Communicating Artery in Human Brain – A Morphological Study

open access: yesGomal Journal of Medical Sciences, 2013
Background: The circle of Willis, present in the interpeduncular cistern at the base of the brain, is the major source of blood supply of the brain.
Anubha Saha   +3 more
doaj  

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho   +9 more
wiley   +1 more source

Isolated Unilateral Pulmonary Artery Hypoplasia with Accompanying Pulmonary Parenchymal Findings on CT: A Case Report

open access: yes대한영상의학회지, 2017
Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis.
Surin Park   +5 more
doaj   +1 more source

The Epidemiology, Aetiology, and Histopathology of Developmental Enamel Defects in Human Teeth

open access: yes, 1983
PhDThe prevalence of developmental enamel defects in t11 permanent dentition was investigated in a sample of 2923 East London schoolchildren aged 5 to 15 years. Enamel discolourations and hypoplasias were identified using well defined criteria.
Smith, Joyce Mary, Smith, J.M.
core  

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

open access: yesThe Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere   +8 more
wiley   +1 more source

Bone marrow abnormalities in HIV infected children, report of three cases and review of the literature

open access: yesJournal of Research in Medical Sciences, 2014
Bone marrow abnormalities in HIV infected adults include hypocellularity, myelodysplasia and poor marrow recovery. Data in children is limited. We report a series of three HIV infected with varied bone marrow abnormalities.
Ira Shah, Anuradha Murthy
doaj  

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