Results 121 to 130 of about 36,492 (239)

Risk Assessment for Developmental Toxicity: Airborne Occupational Exposure to Ethanol and Iodine [PDF]

, 1991
Dean Mattison explains hazard identification, hazard characterization and exposure characterization as furnishing a foundation for Risk assessment generally. He then illustrates their application in assessing the fetal Risk posed by two common substances.
Mattison, Donald R.
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

The role of the pediatrican in the effort to prevent congenital malformations [PDF]

, 2011
N
Brent, Robert L, Dr.
core   +1 more source

Vectors and Vector‐Borne Diseases: Biology, Epidemiology and Integrated Control Strategies

Journal of Applied Entomology, EarlyView.
ABSTRACT Vector‐Borne Diseases (VBDs), transmitted by arthropods such as mosquitoes, ticks, fleas and sandflies, represent a significant threat to global health. These diseases can be caused by a variety of pathogens, including bacteria, viruses, protozoa, and helminths.
Roberta Rinaldi, Carmen Scieuzo, Federica De Stefano, Luca Masucci, Patrizia Falabella   +4 more
wiley   +1 more source

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness]. [PDF]

Rev Neurol, 2023
Arroyo-Carrera I, Solo de Zaldívar-Tristancho M, García Navas-Núñez VD, Ramajo-Polo A, Gutiérrez-Agujetas M.   +4 more
europepmc   +1 more source

Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks. [PDF]

BMC Pregnancy Childbirth, 2021
Shen S, Xiao W, Zhang L, Lu J, Funk A, He J, Tu S, Yu J, Yang L, Fontanet A, Bao W, Cheng KK, Qiu X.   +12 more
europepmc   +1 more source

Effect of blood meals and mating on biodemographic characteristics of Aedes albopictus

Physiological Entomology, EarlyView.
Lifespan did not differ between virgin and mated males and females. The number of blood meals (one and two) significantly reduced adult lifespan compared with those with no blood meal. The effect of the second blood meal doubled females' egg production and their reproductive output.
Georgios D. Mastronikolos, Nikos T. Papadopoulos   +1 more
wiley   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Congenital disorders. Microcephalia [PDF]

Orvosi Hetilap, 2011
József Gábor, Joó, Akos, Csaba, Miklós, Németh, Zoltán, Langmár   +3 more
openaire   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source