PMC Articles for MedGen (Select 343995) - PMC

Result Filters

Links from MedGen

Items: 3

Select item 67776311.

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Daniel L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Päivi Vieira, Kristiina Avela, Valérie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P. M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä

Eur J Hum Genet. 2019 Aug; 27(8): 1235–1243. Published online 2019 Mar 26. doi: 10.1038/s41431-019-0383-8

Correction in:: Eur J Hum Genet. 2020 Apr; 28(4): 532.

PMCID:: PMC6777631

Article PDF–927K

Select item 99893502.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

Nataliya Di Donato, Renzo Guerrini, Charles J Billington, Jr, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns

Brain. 2022 Sep; 145(9): 3274–3287. Published online 2022 Jun 30. doi: 10.1093/brain/awac164