aldh7a1 regulates eye and limb development in zebrafish.

Autor: Holly E Babcock, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks

Publikováno v: PLoS ONE, Vol 9, Iss 7, p e101782 (2014)

Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating

Externí odkaz: https://doaj.org/article/e830525ea41f45949613332e50f1e6e4

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Autor: Marwan Shinawi, Jessica Van Ziffle, Carsten G. Bönnemann, Mohamad A. Mikati, Vandana Shashi, Konrad Platzer, Manju A. Kurian, Katy Barwick, Kathleen A. Leppig, Patrick Devine, F. Lucy Raymond, Tomi L. Toler, Johan Lundgren, Koen L.I. van Gassen, Anne Slavotinek, Saskia N. van der Crabben, Wendy K. Chung, Richard H. van Jaarsveld, Matias Wagner, Rikke S. Møller, Marie T. McDonald, Pia Zacher, Kristen Wigby, Heather C Mefford, Dewi P. Bakker, Jennifer Friedman, Angus John Clarke, Joseph T. Shieh, Holly E. Babcock, Julian R. Sampson, Amy McTague, Jamal Ghoumid, Bernt Popp, Saskia B. Wortmann, Emma Hobson, Michaela Bonfert, Gabriella Horvath, Chiara Klöckner, Virgina Lee, Cyril Mignot, Yuri A. Zarate, Jennifer A. Sullivan, Marie-José H. van den Boogaard, Johannes R. Lemke, Alba Sanchis-Juan, Tommy Stödberg, Heinrich Sticht, Eva H. Brilstra, Alyssa Gates, Caroline Nava, Nicholas Stong, Sandra Donkervoort, Alexandrea Wadley, Boris Keren, Jamie L. Fraser, Ashley C. Taylor, Jennifer Keller-Ramey

Publikováno v: Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)
Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Genetics in medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Genetics in Medicine, 23(4), 653-660. Lippincott Williams and Wilkins

Purpose\ud This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals.\ud \ud Met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfca6748143067988ef44bdb8b93decc
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808

X-Linked Candidate Genes for a Ciliopathy-Like Disorder

Autor: Thierry Vilboux, Margot D. Ahronovich, Benjamin D. Solomon, Holly E. Babcock, Ashleigh R. Pavey

Publikováno v: Molecular syndromology. 7(1)

The ability to interrogate the genome via chromosomal microarray and sequencing-based technologies has accelerated the ability to rapidly and accurately define etiologies as well as new candidate genes related to genetic conditions. We describe a mal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04245cd49ab59b229b692574c45dbd
https://pubmed.ncbi.nlm.nih.gov/27194972