Results 151 to 160 of about 36,064 (332)
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
The Primary Cilium of Connective Tissue Cells: Imaging by Multiphoton Microscopy [PDF]
, 2008 Eve Donnelly +2 more
openalex +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Functional Genomics of the Cilium, a Sensory Organelle [PDF]
, 2005 Oliver E. Blacque +18 more
openalex +1 more source
Cilium and VDM -- Towards Formal Analysis of Cilium Policies
Industrial control systems are becoming more distributed and interconnected to allow for interaction with modern computing infrastructures. Furthermore, the amount of data generated by these systems is increasing due to integration of more sensors and the need to increase the reliability of the system based on predictive data models.
Kulik, Tomas, Boudjadar, Jalil
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation [PDF]
, 2006 Helen R. Dawe +14 more
openalex +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The pathogenesis of inflammation in eosinophilic chronic rhinosinusitis (ECRS) and non‐eosinophilic chronic rhinosinusitis (NECRS) remains poorly understood. This study aimed to assess immune cell infiltration within the sinonasal microenvironment in these conditions.
Katarzyna Czerwaty +5 more
wiley +1 more source
Galectin-3 Associates with the Primary Cilium and Modulates Cyst Growth in Congenital Polycystic Kidney Disease [PDF]
, 2006 Miliyun G. Chiu +11 more
openalex +1 more source