Vascular anomalies in Koolen‐de Vries syndrome: Expanding the spectrum of cutaneous findings

Autor: María Trinidad Hasbun Zegpi, Daniela Alfaro‐Sepúlveda, Luisa Schonhaut Berman, Cecilia Mellado Sagredo

Publikováno v: JEADV Clinical Practice, Vol 3, Iss 2, Pp 726-728 (2024)

Externí odkaz: https://doaj.org/article/4b37281180a04cc8a8f65622fbc41843

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Autor: Asbjørg Stray-Pedersen, Anne Ronan, Yunru Shao, Eric Haan, Katharina Steindl, Zöe Powis, Perla Thulin, Giuseppe Testa, Janneke H M Schuurs-Hoeijmakers, William J. Craigen, Raman Kumar, David Rodriguez-Buritica, Michele Gabriele, Laura S. Farach, Susanne Kjaergaard, Rolph Pfundt, Jillian Nicholl, Jozef Gecz, Petter Strømme, Stefan H. Lelieveld, Kenjiro Kosaki, Sally Ann Lynch, Kimberly M. Nugent, Willy M. Nillesen, Bregje W.M. van Bon, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Eirik Frengen, Lisenka E.L.M. Vissers, Scott D. McLean, Evelyn Douglas, Joris Andrieux, David A. Koolen, Anneke T. Vulto-van Silfhout, Han G. Brunner, Arie van Haeringen, Jenny Morton, Sophie Patrier, Anita Rauch, Christeen Ramane J. Pedurupillay, Pierre-Luc Germain, Peter J. Anderson, Christian Gilissen, Christian P. Schaaf, Alessandro Vitriolo, Jennifer Friedman, Toshiki Takenouchi, Pascal Chambon, Bert B.A. de Vries, Doriana Misceo, Pernille Mathiesen Tørring

Publikováno v: American Journal of Human Genetics, 100(6), 907-925. Cell Press
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925

Contains fulltext : 174704.pdf (Publisher’s version ) (Open Access) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07351067280f9e4d20a25e94d59668cf
https://hdl.handle.net/2066/174704

Síndrome Koolen de Vries: un reto en la práctica clínica

Autor: Antonio Urda Cardona, María Moreno Samos, Jacinto Luis Martínez Antón, Esther Eugenia Moreno Medinilla

Publikováno v: Anales de Pediatría (English Edition), Vol 86, Iss 3, Pp 162-164 (2017)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa0edb36cecf26e36bbbf31a1cd4bf3
http://www.sciencedirect.com/science/article/pii/S2341287917300078

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE)

Publikováno v: The Lancet. Respiratory Medicine. 3(10):769-781

Background Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD). We used UK Biobank data to study the genetic causes of smoking behaviou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___01423::667aeb2d8134460dcb0d8e3a0016d5ce
https://doi.org/10.1016/S2213-2600(15)00283-0