Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

Autor: Marianna Farnè, Cristina Balla, Alice Margutti, Rita Selvatici, Martina De Raffele, Assunta Di Domenico, Paola Imbrici, Elia De Maria, Mauro Biffi, Matteo Bertini, Claudio Rapezzi, Alessandra Ferlini, Francesca Gualandi

Publikováno v: Cardiogenetics, Vol 11, Iss 3, Pp 139-147 (2021)

Brugada syndrome (BrS) is an inherited disorder with high allelic and genetic heterogeneity clinically characterized by typical coved-type ST segment elevation at the electrocardiogram (ECG), which may occur either spontaneously or after provocative

Externí odkaz: https://doaj.org/article/e17ee66734544e7688e8d7d16268b950

Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study

Autor: Daniela Bragantini, Børge Sivertsen, Philip Gehrman, Stian Lydersen, Ismail Cüneyt Güzey

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

Abstract Background In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are not known. The aim of

Externí odkaz: https://doaj.org/article/9b76a889bdd844c39fa22a8d2bc34a99

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Publikováno v: Clinical epigenetics. 14(1)

Background: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::18e1ddf1fcc8f003665f5c1d1c150510
http://www.scopus.com/inward/record.url?scp=85141474599&partnerID=8YFLogxK

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Autor: Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-Castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, De Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R, Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, De Nanclares, Guiomar Perez, Temple, I Karen, Ogata, Tsutomu, Lapunzina, Pablo, Eggermann, Thomas

Publikováno v: Clinical epigenetics, 14(1):143. Springer Verlag
Mackay, D, Bliek, J, Kagami, M, Tenorio-Castano, J, Pereda, A, Brioude, F, Netchine, I, Papingi, D, de Franco, E, Lever, M, Sillibourne, J, Lombardi, P, Gaston, V, Tauber, M, Diene, G, Bieth, E, Fernandez, L, Nevado, J, Tümer, Z, Riccio, A, Maher, E R, Beygo, J, Tannorella, P, Russo, S, de Nanclares, G P, Temple, I K, Ogata, T, Lapunzina, P & Eggermann, T 2022, ' First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders ', Clinical Epigenetics, vol. 14, 143 . https://doi.org/10.1186/s13148-022-01358-9
Clinical epigenetics 14(1), 143 (2022). doi:10.1186/s13148-022-01358-9

Funder: National Institute for Health Research (NIHR)
Funder: RWTH Aachen University
BACKGROUND: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a74257e070fe18fdf606da054845646

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

Autor: Sha Tang, Jesse M. Hunter, Samin A. Sajan, Kelly D. Farwell Hagman, Kelly Radtke, Cathy A. Stevens, Erica D. Smith, Deepali N. Shinde, Wendy Alcaraz, Candace Muss, Kirsten Blanco, Jennifer Huang, Bess Wayburn, Mari Rossi

Publikováno v: Genetics in Medicine

Purpose We evaluated clinical and genetic features enriched in patients with multiple Mendelian conditions to determine which patients are more likely to have multiple potentially relevant genetic findings (MPRF). Methods Results of the first 7698 pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962119567c89ebd92f8a20f49cad46f2
http://europepmc.org/articles/PMC6774997