The clinical relevance of intragenic NRXN1 deletions

Autor: Hilde Van Esch, Joris Vermeesch, Louise Gallagher, Eric Legius, Griet Van Buggenhout, Thomy de Ravel, Laura Vandenhove, Peter Aerssens, Nele Cosemans, Koenraad Devriendt, Annick Vogels, Sanbing Shen, Hilde Olivié, Jacqueline Fitzgerald, Hilde Peeters, Jeroen Breckpot, Els Ortibus

Publikováno v: Journal of Medical Genetics. 57:347-355

BackgroundIntragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c857a9e8bca50014a388e16fe900e5
https://doi.org/10.1136/jmedgenet-2019-106448

Mortality, neurodevelopmental impairments, and economic outcomes after invasive group B streptococcal disease in early infancy in Denmark and the Netherlands:a national matched cohort study

Autor: Susan Hahné, Merijn W Bijlsma, Brechje de Gier, Mark Jit, Jaya Chandna, Merel N van Kassel, Proma Paul, Simon R Procter, Diederik van de Beek, Henrik Toft Sørensen, Erzsébet Horváth-Puhó, Joy E Lawn, Stephanie J. Schrag, Bronner P. Gonçalves, Kirstine Kobberøe Søgaard, Arie van der Ende

Publikováno v: Horváth-Puhó, E, van Kassel, M N, Gonçalves, B P, de Gier, B, Procter, S R, Paul, P, van der Ende, A, Søgaard, K K, Hahné, S J M, Chandna, J, Schrag, S J, van de Beek, D, Jit, M, Sørensen, H T, Bijlsma, M W & Lawn, J E 2021, ' Mortality, neurodevelopmental impairments, and economic outcomes after invasive group B streptococcal disease in early infancy in Denmark and the Netherlands : a national matched cohort study ', The Lancet Child & Adolecent Health, vol. 5, no. 6, pp. 398-407 . https://doi.org/10.1016/S2352-4642(21)00022-5
The Lancet Child and Adolescent Health, 5(6), 398-407. Elsevier BV
Horváth-Puhó, E, van Kassel, M N, Gonçalves, B P, de Gier, B, Procter, S R, Paul, P, van der Ende, A, Søgaard, K K, Hahné, S J M, Chandna, J, Schrag, S J, van de Beek, D, Jit, M, Sørensen, H T, Bijlsma, M W & Lawn, J E 2021, ' Mortality, neurodevelopmental impairments, and economic outcomes after invasive group B streptococcal disease in early infancy in Denmark and the Netherlands : a national matched cohort study ', The Lancet Child and Adolescent Health, vol. 5, no. 6, pp. 398-407 . https://doi.org/10.1016/S2352-4642(21)00022-5
The Lancet. Child & Adolescent Health

BACKGROUND: Group B Streptococcus (GBS) disease is a leading cause of neonatal death, but its long-term effects have not been studied after early childhood. The aim of this study was to assess long-term mortality, neurodevelopmental impairments (NDIs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b4d8e19d6d634aa96bf12714013de26
https://pure.au.dk/portal/da/publications/mortality-neurodevelopmental-impairments-and-economic-outcomes-after-invasive-group-b-streptococcal-disease-in-early-infancy-in-denmark-and-the-netherlands(068f2237-4860-478b-8cbc-477f0f919fa2).html

Behavioural and neurodevelopmental impairment at school age following necrotising enterocolitis in the newborn period

Autor: Ida Voss Jensen, Rasmus Gregersen, Gorm Greisen, Sandra Meinich Juhl, Mathias Lühr Hansen

Publikováno v: PLoS ONE, Vol 14, Iss 4, p e0215220 (2019)
Hansen, M L, Jensen, I V, Gregersen, R, Juhl, S M & Greisen, G 2019, ' Behavioural and neurodevelopmental impairment at school age following necrotising enterocolitis in the newborn period ', PLoS ONE, vol. 14, no. 4, e0215220 . https://doi.org/10.1371/journal.pone.0215220

AIM: The aim of this study was to evaluate long-term behavioural and neurodevelopmental complications of neonatal necrotizing enterocolitis at school age.METHOD: This was a historic cohort study comparing all surviving children born in Denmark betwee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a0adaaba8759a972fd9603e5b2c0bc6
https://doaj.org/article/76e4521384064817bd75df9f1b9f688a

Population based report on health related quality of life in adolescents born very preterm

Autor: Hans Ulrich Bucher, Mark Raymond Adams, Michael von Rhein, Beatrice Latal, Cristina Borradori Tolsa, Giancarlo Natalucci

Publikováno v: Early Human Development, Vol. 104 (2017) pp. 7-12

Background As the survival rate of preterm infants constantly improves, knowledge on the impact of prematurity on long-term health-related quality of life (HRQoL) is important for clinical and parental guidance. We aimed to assess HRQoL in a national

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c438fb9876c2337656218afec0247e41
https://archive-ouverte.unige.ch/unige:107560