Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …
of the absence of morphological clues, information about the position of such genes, and …
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
D Monk, J Morales, JT den Dunnen, S Russo, F Court… - Epigenetics, 2018 - Taylor & Francis
The analysis of DNA methylation has become routine in the pipeline for diagnosis of
imprinting disorders, with many publications reporting aberrant methylation associated with …
imprinting disorders, with many publications reporting aberrant methylation associated with …
[HTML][HTML] Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
LE Docherty, FI Rezwan, RL Poole, CLS Turner… - Nature …, 2015 - nature.com
Human-imprinting disorders are congenital disorders of growth, development and
metabolism, associated with disturbance of parent of origin-specific DNA methylation at …
metabolism, associated with disturbance of parent of origin-specific DNA methylation at …
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
M Begemann, FI Rezwan, J Beygo… - Journal of Medical …, 2018 - jmg.bmj.com
Background Genomic imprinting results from the resistance of germline epigenetic marks to
reprogramming in the early embryo for a small number of mammalian genes. Genetic …
reprogramming in the early embryo for a small number of mammalian genes. Genetic …
Prenatal testing for imprinting disorders: A laboratory perspective
J Beygo, S Russo, P Tannorella… - Prenatal …, 2023 - Wiley Online Library
Abstract Imprinting Disorders (ImpDis) are a group of congenital syndromes associated with
up to four different types of molecular disturbances affecting the monoallelic and parent‐of …
up to four different types of molecular disturbances affecting the monoallelic and parent‐of …
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining …
Abstract At chromosome 11p15. 5, the imprinting centre 1 (IC1) controls the parent of origin-
specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target …
specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target …
[HTML][HTML] First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
D Mackay, J Bliek, M Kagami, J Tenorio-Castano… - Clinical …, 2022 - Springer
Background Imprinting disorders, which affect growth, development, metabolism and
neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed …
neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed …
[HTML][HTML] Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
J Beygo, K Buiting, SC Ramsden, R Ellis… - European Journal of …, 2019 - nature.com
This article is an update of the best practice guidelines for the molecular analysis of Prader-
Willi and Angelman syndromes published in 2010 in BMC Medical Genetics. The update …
Willi and Angelman syndromes published in 2010 in BMC Medical Genetics. The update …
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature
A Le Fevre, J Beygo, C Silveira… - American Journal of …, 2017 - Wiley Online Library
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent
speech and a generally happy demeanor. The four known etiological mechanisms; …
speech and a generally happy demeanor. The four known etiological mechanisms; …
[HTML][HTML] Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
S Cöktü, C Spix, M Kaiser, J Beygo, S Kleinle… - British Journal of …, 2020 - nature.com
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …