Zobrazeno 1 - 10
of 683
pro vyhledávání: '"A. Latos-Bielenska"'
Autor:
Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Say‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B
Externí odkaz:
https://doaj.org/article/7450df0e73384dba8c6d9c9e844d4c56
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
Akademický článek
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Akademický článek
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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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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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:
Kristina Garne Holm, Amanda Julie Neville, Anna Pierini, Anna Latos Bielenska, Anna Jamry-Dziurla, Clara Cavero-Carbonell, Ester Garne, Jane Clemensen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
EUROlinkCAT aims to investigate the health and educational outcomes of children with congenital anomalies for the first 10 years of their lives. We also aim to facilitate the development of a more reciprocal relationship between families with childre
Externí odkaz:
https://doaj.org/article/aee690e774ad4283ad54dced06c94142
Autor:
Joan K. Morris, Marie-Claude Addor, Elisa Ballardini, Ingeborg Barisic, Laia Barrachina-Bonet, Paula Braz, Clara Cavero-Carbonell, Elly Den Hond, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Nathalie Lelong, Agnieszka Kinsner-Ovaskainen, Sonja Kiuru-Kuhlefelt, Kari Klungsoyr, Anna Latos-Bielenska, Elizabeth Limb, Mary T O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Antonin Sipek, Sarah Stevens, David Tucker, Christine Verellen-Dumoulin, Hermien E. K. de Walle, Diana Wellesley, Wladimir Wertelecki, Eva Bermejo-Sanchez
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic ac
Externí odkaz:
https://doaj.org/article/57a0c1d9d13544888581528d0d4764a7