Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’

Autor: Stina Lou, Pernille Axel Gregersen, Mikkel Funding, Steen F Urbak, Jan Alsner, Maja H Olsen, Jens Overgaard, Sandra E Staffieri

Publikováno v: BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)

Objective To explore living with heritable retinoblastoma, specifically survivors’ perceived role of regular follow-up at a retinoblastoma survivorship clinic.Methods and analysis Adult survivors of heritable retinoblastoma were recruited from the

Externí odkaz: https://doaj.org/article/f8ae4ce979a04587b9150df92024c391

Real-world evidence in achondroplasia: considerations for a standardized data set

Autor: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

Abstract Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital

Externí odkaz: https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933

Lifetime impact of achondroplasia study in Europe (LIAISE):findings from a multinational observational study

Autor: Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

Publikováno v: Maghnie, M, Semler, O, Guillen-Navarro, E, Selicorni, A, Heath, K E, Haeusler, G, Hagenäs, L, Merker, A, Leiva-Gea, A, González, V L, Raimann, A, Rehberg, M, Santos-Simarro, F, Ertl, D A, Gregersen, P A, Onesimo, R, Landfeldt, E, Jarrett, J, Quinn, J, Rowell, R, Pimenta, J, Cohen, S, Butt, T, Shediac, R, Mukherjee, S & Mohnike, K 2023, ' Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study ', Orphanet Journal of Rare Diseases, vol. 18, no. 1, 56 . https://doi.org/10.1186/s13023-023-02652-2

Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11dfec7ac94b250d5e128980ec2c0d09
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html

Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2

Autor: Sara Markholt, Lotte Andreasen, Jesper Bjerre, Pernille Axél Gregersen, Brian Nauheimer Andersen

Publikováno v: Markholt, S, Andreassen, L, Bjerre, J V, Gregersen, P A & Andersen, B N 2023, ' Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2 ', European Journal of Medical Genetics, vol. 66, no. 2, 104695 . https://doi.org/10.1016/j.ejmg.2023.104695

Noonan syndrome is characterized by variable phenotypic expressivity with characteristic dysmorphic facial features, varying degrees of intellectual disability, developmental delay, short stature, and congenital heart defects in 50–80%. Other findi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d5926bf74c6525775c0868b79c2a73
https://doi.org/10.1016/j.ejmg.2023.104695

[Beckwith-Wiedemann over-growth syndrom]

Autor: Tina, Leunbach, Stense, Farholt, Anne, Skakkebæk, Pernille Axél, Gregersen

Publikováno v: Ugeskrift for laeger. 183(24)

We report a boy with congenital hemihyperplasia, umbilical hernia and temporary neonatal hypoglycemia, who was confirmed to have BWS caused by paternal uniparental disomy of chromosome 11p15.5. Additional phenotypic features comprising scoliosis, nep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a889554adf0e332c6bddcdf48bb2711d
https://pubmed.ncbi.nlm.nih.gov/34120690