Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Robert Smigiel"'
Autor:
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Pawel Karpinski, Joanna Bladowska, Rafal Ploski, Robert Smigiel
Publikováno v:
Genes, Vol 15, Iss 2, p 256 (2024)
Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the ZMYND11 gene. The range of cl
Externí odkaz:
https://doaj.org/article/b954df41148e45dbbeed4d285e5f375c
Autor:
The International EA-QOL Group, Michaela Dellenmark Blom, Stefanie Witt, Benjamin Zendejas, Ivana Sabolić, Juan Domingo Porras-Hernandez, Natalie Durkin, Simon Eaton, Kjersti Birketvedt, Alba Sánchez Galán, Katalin Eszter Müller, Anna Rozensztrauch, Tutku Soyer, Siqi Li, Anastasia Fourtaka, Corne de Vos, Graham Slater, Ana Špoljarić, John Bennett, Ragnhild Emblem, Zita Andrásdi, Robert Smigiel, Dariusz Patkowski, Çiğdem Ulukaya Durakbaşa, Marina Stilinović, Frederic Gottrand, Dora Škrljak Šoša, Tomislav Luetić, Sylwester Gerus, Shen Yang, Yong Zhao, Yichao Gu, Shuangshuang Li, Diego Rodriguez-Alvirde, Orsolya Kadenczki, Miram Pasini, Vuokko Wallace, Anke Widenmann, Feliciana Milagres Sikwete, Jinshi Huang, Leopoldo Martínez Martínez, Kate Abrahamsson, Shawn Izadi, Benno M Ure, Daniel Sidler, Julia H Quitmann, Jens Dingemann
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundEsophageal atresia (EA) is a rare congenital anomaly characterized by a discontinuity of the esophagus. Following surgical repair, survival rates have improved dramatically the past decenniums and today exceed 90%, but the children commonly
Externí odkaz:
https://doaj.org/article/4829ecacbcbb4ffebab6b964fbec1314
Autor:
Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens, Peter Henneman
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6601 (2023)
Fetal alcohol spectrum disorder (FASD) encompasses neurodevelopmental disabilities and physical birth defects associated with prenatal alcohol exposure. Previously, we attempted to identify epigenetic biomarkers for FASD by investigating the genome-w
Externí odkaz:
https://doaj.org/article/ffd6df11b59c401582d761ee3570f87b
Autor:
Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)
Summary: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/
Externí odkaz:
https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1
Autor:
Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsu
Externí odkaz:
https://doaj.org/article/5c17636ad65c4694a5c87f7f90539229
Autor:
Izabela Cendal, Agnieszka Szafrańska, Tomasz Fuchs, Dariusz Patkowski, Robert Smigiel, Barbara Królak-Olejnik
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In th
Externí odkaz:
https://doaj.org/article/91ec21c498204c5a9f844d09047e8110
Autor:
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and
Externí odkaz:
https://doaj.org/article/80124a98602c4794863224c650289c08
Autor:
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS),
Externí odkaz:
https://doaj.org/article/f8029d5ce666483fbc8966ea877d1576
Autor:
Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel
Publikováno v:
Genes, Vol 13, Iss 8, p 1339 (2022)
Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause diff
Externí odkaz:
https://doaj.org/article/f0a77b79386243bcb1fbddf27f08881a
Autor:
Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated
Externí odkaz:
https://doaj.org/article/838c78c266784798b424fa5fe41a5610