Výsledky vyhledávání - "Brachmann-De Lange syndrome"

Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report

Autor: Oguzhan Arun, Bahar Oc, Esma Nur Metin, Ahmet Sert, Resul Yilmaz, Mehmet Oc

Publikováno v: World Journal of Cardiology

BACKGROUND Cornelia de Lange syndrome (CdLS) is a congenital multisystemic genetic disorder. The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years. However, they still more f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074bb3ccfd091b97bb9cb5c3c25f1787
http://europepmc.org/articles/PMC8788174

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Cornelia de Lange syndrome and congenital diaphragmatic hernia

Autor: Kevin P. Lally, Matthew T. Harting, Amir M. Khan, Pamela A. Lally, Ashley H Ebanks, Vikas S. Gupta

Publikováno v: Journal of Pediatric Surgery. 56:697-699

There is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%-20% of CdLS cases. We aimed to identify and describe patients with CDLS and CDH. We hypothesized

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8b11805a440d4aeb33cacbf9845947
https://doi.org/10.1016/j.jpedsurg.2020.06.003

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Functional abilities in children with Cornelia de Lange syndrome – pilot study

Autor: Emilia Mikołajewska

Publikováno v: Annales Academiae Medicae Silesiensis. 73:199-202

WstępZespół Cornelii de Lange (Cornelia de Lange syndrome – CdLS, nazywany również Brachmann de Lange syndrome – BdLS) jest wrodzonym wielosystemowym schorzeniem rozwojowym, charakteryzującym się wyróżniającymi się rysami twarzy, opó�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::310e810b15a8d005c87edd95c918c573
https://doi.org/10.18794/aams/109776

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Phenotypes and genotypes in individuals with SMC1A variants

Autor: Egbert J.W. Redeker, Annemiek Landlust, Mariet W. Elting, Jo Moss, Yvonne Hilhorst-Hofstee, Juan Pié, Saskia M. J. Hopman, Rieneke Vorstenbosch, Ingrid D. C. van Balkom, Angelo Selicorni, Anne Marie Bisgaard, Sandra Jansen, Chris Oliver, Caroline Michot, Sylvia A. Huisman, Maninder Kaur, Ilaria Parenti, Katta M. Girisha, Zeynep Tümer, Ingrid Bader, Matthew A. Deardorff, Claudine Rieubland, Davor Lessel, Sigrid Piening, Mala Isrie, Denise Horn, Paul A. Mulder, Constanza Cinca, Tara L. Wenger, Cathrine Jespersgaard, Jolanta Wierzba, Karin E. M. Diderich, Phillis Lakeman, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Anthonie J. van Essen, Alice S. Brooks, Raoul C.M. Hennekam, Frank J. Kaiser, Ian D. Krantz, Feliciano J. Ramos, Tjitske Kleefstra, David R. FitzPatrick, Sarah E. Noon, Anna Cereda, Silvia Russo, Dinah Clark, Valérie Cormier-Daire

Publikováno v: American Journal of Medical Genetics Part A, 173(8), 2108-2125
American Journal of Medical Genetics, Part A, 173(8), 2108-2125. Wiley-Liss Inc.
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
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American Journal of Medical Genetics Part A, 173(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
American journal of medical genetics. Part A, 173A(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125

Item does not contain fulltext SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individual

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052e3e400550993f8afb8d8d666e286a
http://hdl.handle.net/1887/94919

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