Associated Papers
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction.
Bianco F et al.
Biomolecules, 2022
Clinical and Pathological Features of Severe Gut Dysmotility.
Bianco F et al.
Advances in Experimental Medicine and Biology, 2022
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F et al.
Human Genetics, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC et al.
Human Genetics, 2020
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Gudmundsson S et al.
European Journal of Medical Genetics, 2019
Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine.
Bianco F et al.
Neurogastroenterology and Motility, 2018
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
Boyle MI et al.
Clinical Genetics, 2017
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E et al.
Gastroenterology, 2015
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