Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Autor: Lawrence M. Nogee, Emily Griffin, Samo Vesel, William Christopher Golden, Laura Southgate, Yoel Hirsch, Wendy K. Chung, John D. Coulson, Matthias Haimel, Michael A Harris, Josef Ekstein, Rajiv D. Machado, Julie Hoover-Fong, Elizabeth Colglazier, Stefan Gräf, Lewis H. Romer, Carrie L. Welch, Nicholas W. Morrell, Jeffrey R. Fineman, Charaka Hadinnapola, Maruša Debeljak, Marta Bleda

Publikováno v: Journal of Medical Genetics. 59:906-911

BackgroundThe molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8dcc1518c650667e9645be8457a69516
https://doi.org/10.1136/jmedgenet-2021-107831

Paediatric and adult congenital cardiology education and training in Europe

Autor: Colin J. McMahon, Ruth Heying, Werner Budts, Anna Cavigelli-Brunner, Maria Shkolnikova, Ina Michel-Behnke, Rainer Kozlik-Feldmann, Håkan Wåhlander, Daniel DeWolf, Sylvie Difilippo, Laslo Kornyei, Maria Giovanna Russo, Anna Kaneva-Nencheva, Senka Mesihovic-Dinarevic, Samo Vesel, Gylfi Oskarsson, George Papadopoulos, Andreas C. Petropoulos, Berna Saylan Cevik, Antonis Jossif, Gabriela Doros, Thomas Krusensjerna-Hafstrom, Joanna Dangel, Otto Rahkonen, Dimpna C. Albert-Brotons, Silvia Alvares, Henrik Brun, Jan Janousek, Olli Pitkänen-Argillander, Inga Voges, Inguna Lubaua, Skaiste Sendzikaite, Alan G. Magee, Mark J. Rhodes, Nico A. Blom, Frances Bu’Lock, Katarina Hanseus, Ornella Milanesi

Publikováno v: McMahon, C J, Heying, R, Budts, W, Cavigelli-Brunner, A, Shkolnikova, M, Michel-Behnke, I, Kozlik-Feldmann, R, Wåhlander, H K, Dewolf, D, Difilippo, S, Kornyei, L, Russo, M G, Kaneva-Nencheva, A, Mesihovic-Dinarevic, S, Vesel, S, Oskarsson, G, Papadopoulos, G, Petropoulos, A C, Cevik, B S, Jossif, A, Doros, G, Krusensjerna-Hafstrom, T, Dangel, J, Rahkonen, O, Albert-Brotons, D C, Alvares, S, Brun, H, Janousek, J, Pitkänen-Argillander, O, Voges, I, Lubaua, I, Sendzikaite, S, Magee, A G, Rhodes, M J, Blom, N A, Bu'lock, F, Hanseus, K & Milanesi, O 2022, ' Paediatric and adult congenital cardiology education and training in Europe ', Cardiology in the Young . https://doi.org/10.1017/S104795112100528X
Cardiology in the young. Cambridge University Press
Cardiology in the Young. Cambridge University Press
Cardiology in the Young, 32(12), 1966-1983. Cambridge University Press
Cardiology in the young, Cambridge : Cambridge University Press, 2022, vol. 32, no. 12, p. 1966-1983
CARDIOLOGY IN THE YOUNG
Cardiology in the Young. CAMBRIDGE UNIV PRESS
Cardiology in the Young

Background:Limited data exist on training of European paediatric and adult congenital cardiologists.Methods:A structured and approved questionnaire was circulated to national delegates of Association for European Paediatric and Congenital Cardiology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05076b433474410194324c8fae8d7c52
http://hdl.handle.net/11591/477355

Biallelic variants of

Autor: Rajiv D, Machado, Carrie L, Welch, Matthias, Haimel, Marta, Bleda, Elizabeth, Colglazier, John D, Coulson, Marusa, Debeljak, Josef, Ekstein, Jeffrey R, Fineman, William Christopher, Golden, Emily L, Griffin, Charaka, Hadinnapola, Michael A, Harris, Yoel, Hirsch, Julie Elizabeth, Hoover-Fong, Lawrence, Nogee, Lewis H, Romer, Samo, Vesel, Stefan, Gräf, Nicholas W, Morrell, Laura, Southgate, Wendy K, Chung

Publikováno v: Journal of medical genetics. 59(9)

The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in theWe report three families with a novel, autosomal recessive f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::59223fe5b0ba20fc24c006a08b565a66
https://pubmed.ncbi.nlm.nih.gov/34493544

Acute rheumatic fever outbreak in southern central European country

Autor: Luka Kopač, Tadej Avcin, Blaž Kosmač, Samo Vesel, Rina Rus, Natalija Krajnc, Nataša Toplak, Matjaž Homan, Urška Kočevar

Publikováno v: European Journal of Pediatrics. 176:23-29

A decline in the incidence of acute rheumatic fever (ARF) in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. ARF seemed to be a rare disease in southern central European

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03bb26ccbcc0cf5af0b0388dc52c547c
https://doi.org/10.1007/s00431-016-2801-z

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

Autor: Darja Paro-Panjan, Samo Vesel, Helger G. Yntema, Sara Bertok, Gregor Nosan

Publikováno v: Croatian Medical Journal
Volume 54
Issue 6

Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan synd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb7b968bebff26792d1302ca1492fbed
https://doi.org/10.3325/cmj.2013.54.574