Results 61 to 70 of about 1,553 (193)
Molecular characterisation of the extracellular matrix protein 1 gene in lipoid proteinosis in South Africa [PDF]
, 2006 Faculty of Health Science Degree of Master of Science in Human Genetics 9809684wLipoid proteinosis (LP) (OMIM 247100) is a rare autosomal recessive disorder that is caused by mutations within the extracellular matrix protein 1 gene (ECM1).
van Hougenhouck-Tulleken, George, Wesley
core
Amygdala lesions do not compromise the cortical network for false-belief reasoning [PDF]
, 2014 The amygdala plays an integral role in human social cognition and behavior, with clear links to emotion recognition, trust judgments, anthropomorphization, and psychiatric disorders ranging from social phobia to autism.
Adolphs, Ralph +5 more
core +3 more sources
Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.This paper describe a 3‐year‐old girl with Turner syndrome who presented with recurrent cough and dyspnea and was diagnosed with hereditary PAP. Genetic analysis revealed a novel hemizygous mutation in the CSF2RA gene (NM_000402.4:c.200_204del, p.Asn67SerfsTer8), which was confirmed as a de novo pathogenic variant and had not been reported previously ...
Qiang Chen +6 more
wiley +1 more source
Doença de Urbach-Wiethe/proteinose lipoidica.
Acta Médica Portuguesa, 1998 The authors present a case of Urbach-Wiethe's disease (lipoid proteinosis), a rare autosomal recessive disorder, in a 49-year-old female patient with pathognomonic cranial radiological findings demonstrated by radiology and computed tomography.
R Maia, L Teixeira, J Drago
doaj +1 more source
Enfermedad de Urbach-Wiethe: presentación de un caso con afectación bucal tratado con láser de CO2 [PDF]
, 2015 Se presenta un caso de enfermedad de Urbach-Wiethe o lipoidoproteinosis con extensas lesiones orales que dificultaban la masticación. Se efectuó un remodelado gingival con fotobisturí de láser C02 en dos tiempos, con lo que se obtuvo un resultado ...
Berini Aytés, Leonardo +3 more
core
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. [PDF]
, 2015 Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias.
Ahituv, Nadav +8 more
core +2 more sources
Skin‐Colored Papules on the Face and Chest of a Female Patient
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Scleromyxedema is an unpredictable but progressive disease and can be lethal due to systemic involvement if not diagnosed timely. Hence, we require a keen observational clinical eye to diagnose the condition from its differentials, along with further research into treatment modalities to treat this condition.
Mehdi Ghahartars +3 more
wiley +1 more source
A Rare Case of Non-resolving Pneumonia: Lipoid Pneumonia
Haseki Tıp Bülteni, 2020 Lipoid pneumonia (LP) is defined as the sum of clinical and radiological abnormalities due to aspiration of oil based foreign materials. There are two kinds of LP defined in the literature.
Bilge Yılmaz Kara +4 more
doaj +1 more source
Assessing allele-specific expression across multiple tissues from RNA-seq read data [PDF]
, 2017 Motivation: RNA sequencing enables allele-specific expression (ASE) studies that complement standard genotype expression studies for common variants and, importantly, also allow measuring the regulatory impact of rare variants.
Dermitzakis, Emmanouil T. +6 more
core
The Paradox of Metachronous Lipoid Pneumonia
Respirology Case Reports, Volume 13, Issue 9, September 2025.This is a case of recurrent exogenous lipoid pneumonia in a single patient caused by multiple unrelated substances. This case underscores the diagnostic value of radiologic patterns, the significance of meticulous exposure history, and the necessity of contemplating alternative aetiologies in patients with new infiltrates during cancer therapy ...
Haruki Kobayashi
wiley +1 more source