Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Anna Latos"'
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficien
Externí odkaz:
https://doaj.org/article/0e0d5cf622d04179ab39c703254bd1dc
Autor:
Elena Marcus, Anna Latos-Bielenska, Anna Jamry-Dziurla, Ingeborg Barišić, Clara Cavero-Carbonell, Elly Den Hond, Ester Garne, Lucas Genard, Ana João Santos, LRenée Lutke, Carlos Matias Dias, Christina Neergaard Pedersen, Amanda J. Neville, Annika Niemann, Ljubica Odak, Anna Pierini, Juan Rico, Anke Rissmann, Judith Rankin, Joan K. Morris
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Parents of children who have a congenital anomaly can experience significant worry about their child’s health. Access to clear, helpful, and trustworthy information can provide a valuable source of support. In this study the aim
Externí odkaz:
https://doaj.org/article/99e0dbde7f4840a99f1d48ef77f06a74
Autor:
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and
Externí odkaz:
https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd
Autor:
Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Anna Latos-Bieleńska, Jacek Zaremba, Alicja Bartoszewska-Kubiak, Olga Haus
Publikováno v:
Current Issues in Molecular Biology, Vol 44, Iss 4, Pp 1472-1478 (2022)
Background: Ehlers-Danlos syndrome (EDS) is a common non-inflammatory, congenital connective tissue disorder. Classical type (cEDS) EDS is one of the more common forms, typically caused by mutations in the COL5A1 and COL5A2 genes, though causative mu
Externí odkaz:
https://doaj.org/article/0e14c75b2ebf41e8ac05cb7b60a5278f
Autor:
Ingeborg Barisic, Carlos Matias Dias, Amanda Neville, Anna Pierini, Anke Rissmann, Joan K Morris, Judith Rankin, Ester Garne, Anna Latos-Bielenska, Elena Marcus, Anna Jamry-Dziurla, Ljubica Odak, Clara Cavero- Carbonell, Elly Den Hond, Lucas Genard, Ana João Santos, L Renée Lutke, Christina Neergaard Pedersen, Annika Niemann, Lucía Páramo-Rodríguez
Publikováno v:
BMJ Open, Vol 12, Iss 7 (2022)
Objective To survey parents and carers of children with a congenital anomaly across Europe about their experiences of healthcare services and support during the COVID-19 pandemic.Design Cross-sectional study.Setting Online survey in 10 European count
Externí odkaz:
https://doaj.org/article/86d7e4d9fa0b47b98e1c2f7ad792bcf5
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d
Autor:
Magdalena Badura‐Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos‐Bieleńska, Rafał Płoski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, and five causative variants in the NHLRC2 gene (*618277) have been identified. First reported patients p
Externí odkaz:
https://doaj.org/article/c9fa25de2e224657992f3ccefbe46aad
Autor:
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearan
Externí odkaz:
https://doaj.org/article/3a057c1244e44416b324608e85beb311
Autor:
Joanna Ryżko, Joanna Walczak-Sztulpa, Piotr Czubkowski, Anna Latos-Bieleńska, Adam Kowalski, Marek Stefanowicz, Wioletta Jarmużek, Ryszard Grenda, Joanna Pawłowska
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disord
Externí odkaz:
https://doaj.org/article/8821847e1d514bc5b8050da41d62b402
Autor:
Marlene Sinclair, Julie E M McCullough, David Elliott, Paula Braz, Clara Cavero-Carbonell, Lesley Dornan, Anna Jamry-Dziurla, Ana João Santos, Anna Latos-Bieleńska, Ausenda Machado, Lucía Páramo-Rodríguez
Publikováno v:
JMIR Pediatrics and Parenting, Vol 4, Iss 4, p e18483 (2021)
BackgroundLimited research evidence exists on the development of web-based platforms for reciprocal communication, coproduction research, and dissemination of information among parents, professionals, and researchers. This paper provides learning and
Externí odkaz:
https://doaj.org/article/0ee4660ec5654f3e9c9b82b91f5a0abd