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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Publikováno v: American Journal of Human Genetics, 105(4), 844-853. Cell Press
American journal of human genetics, vol 105, iss 4

Lissencephaly is a severe brain malformation in which failure of neuronal migration results in agyria or pachygyria and in which the brain surface appears unusually smooth. It is often associated with microcephaly, profound intellectual disability, e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d2840d40ed7110213c7890ff4c4eb3
https://doi.org/10.1016/j.ajhg.2019.08.013

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The clinical-phenotype continuum in dync1h1-related disorders-genomic profiling and proposal for a novel classification

Autor: Jens Schallner, Florence Petit, Ingrid P.C. Krapels, Bernhard Weschke, Lena-Luise Becker, Levinus A. Bok, Thomas Smol, Dalia Abdin, Angela M. Kaindl, Katherine Johnson, Lance H. Rodan, Stephanie Spranger, Maja von der Hagen, Michael Seifert, Hormos Salimi Dafsari, Sebahattin Cirak, Volker Straub, Nataliya Di Donato

Publikováno v: Journal of Human Genetics
Journal of Human Genetics, 2020, Journal of human genetics, 65 (11), pp.1003-1017. ⟨10.1038/s10038-020-0803-1⟩
Journal of Human Genetics, 65(11), 1003-1017. Nature Publishing Group
Journal of human genetics
Journal of human genetics, 2020, Journal of human genetics, 65 (11), pp.1003-1017. ⟨10.1038/s10038-020-0803-1⟩

Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f2d33e4d966ff75391e899a6c15002b
https://hal.univ-lille.fr/hal-03405254

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Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia

Autor: Anna C. Thomas, L. Solman, Satyamaanasa Polubothu, Neil W. Bulstrode, Lisa Weibel, J. Obwegeser, Dalia Abdin, Raoul C.M. Hennekam, M. Barysch, Veronica A. Kinsler, Alistair Calder, N. Di Donato, R. Evans

Publikováno v: British journal of dermatology, 183(6), 1128-1130. Wiley-Blackwell

Segmental odontomaxillary dysplasia (SOD) is a rare condition of unknown incidence, with approximately 60 cases reported (as reviewed in 2018)1 . It presents at birth or during childhood with a constellation of ipsilateral facial signs: non-progressi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a8dc4c77d789418b65634c5067f4d8
https://pubmed.ncbi.nlm.nih.gov/32585735

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Parental mosaicism in epilepsies due to alleged de novo variants

Autor: Nahrain Kako, Line H.G. Larsen, Pia Zacher, Dalia Abdin, Nora Liebmann, Steffen Syrbe, Mathias Stiller, Nataliya Di Donato, Deb K. Pal, Rikke S. Møller, Hans Atli Dahl, Julia Hentschel, Johannes R. Lemke

Publikováno v: Møller, R S, Liebmann, N, Larsen, L H G, Stiller, M, Hentschel, J, Kako, N, Abdin, D, Di Donato, N, Pal, D K, Zacher, P, Syrbe, S, Dahl, H A & Lemke, J R 2019, ' Parental mosaicism in epilepsies due to alleged de novo variants ', Epilepsia, vol. 60, no. 6, pp. e63-e66 . https://doi.org/10.1111/epi.15187

Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies have reported the frequency of somatic mosaicism in parents of children with severe epileptic encephalopathies. Here we aim to investigate the frequency of mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::821d56993a50c6f5f0690e7a4e12ee30
https://findresearcher.sdu.dk:8443/ws/files/170615666/epi.15187.pdf

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PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome

Autor: Evelin Schröck, Andreas Tzschach, Karl Hackmann, Katharina Sarnow, Dalia Abdin, N. Di Donato, Andreas Rump

Publikováno v: European Journal of Medical Genetics. 62:103587

Expression of the fusion genes is considered to be an important mechanism of tumorigenesis. However it is hardly ever discussed in relation to the neurodevelopmental disorders. Here we report on an 18-years-old female patient with 13.1 kb deletion of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9f714031cb7e3c9db088b1bd3433b56
https://doi.org/10.1016/j.ejmg.2018.11.021

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