American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong +16 more
wiley +1 more source
Advances in Diagnosis of Respiratory Diseases of Small Ruminants
Veterinary Medicine International, 2014 Irrespective of aetiology, infectious respiratory diseases of sheep and goats contribute to 5.6 percent of the total diseases of small ruminants. These infectious respiratory disorders are divided into two groups: the diseases of upper respiratory tract,
Sandip Chakraborty +7 more
doaj +1 more source
Awareness of Vaccination against Respiratory Tract Diseases, Including Pneumonia, Influenza, and COVID-19 in Patients with Diabetes Mellitus. [PDF]
Int J Clin Pract, 2022 Karagun B +6 more
europepmc +1 more source
Математические модели развития и компенсации гипоксических состояний при ишемической болезни сердца у лиц летного состава [PDF]
, 2019 The increase of pilots’ labor intensity caused by rapid development of flight technologies and increasing of complexity of combat missions faced by flight crew members increases the loads on organisms of flight personnel in general and in particular on
Аралова, Наталия Игоревна +3 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
Association of Sinusitis and Upper Respiratory Tract Diseases With Incident Rheumatoid Arthritis: A Case-control Study. [PDF]
J Rheumatol, 2022 Kronzer VL +8 more
europepmc +1 more source
The climatic influence of our southwestern states on diseases of the respiratory tract [PDF]
, 1898 openalex +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
BMJ OpenObjectives The study aimed to understand the composition, epidemiological characteristics and disease burden of chronic non-communicable diseases and to evaluate the association between sociodemographic factors and chronic non-communicable diseases ...
Lan Chen +5 more
doaj +1 more source
Comment on "Effect of exposure to ambient PM2.5 pollution on the risk of respiratory tract diseases: a meta-analysis of cohort studies". [PDF]
J Biomed Res, 2022 Abdul-Fatah A, Gao JL, Stieb DM.
europepmc +1 more source