Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.

Autor: Avagliano L; Università degli Studi di Milano, Milan, Italy., Castiglioni S; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy., Lettieri A; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy., Parodi C; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy., Di Fede E; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, Italy., Taci E; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, Italy., Grazioli P; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy., Colombo EA; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy., Gervasini C; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, Italy., Massa V; Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, Italy.

Publikováno v: Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2383.

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22

Autor: Rouleau, G A, Seizinger, B R, Wertelecki, W, Haines, J L, Superneau, D W, Martuza, R L, Gusella, J F

Neurofibromatosis 2 or bilateral acoustic neurofibromatosis (NF2) is a severe autosomal dominant disorder characterized by the development of multiple tumors of the nervous system, including meningiomas, gliomas, neurofibromas, ependymomas, and parti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2188505f1bc4bec8fa9288dee4897b34
https://europepmc.org/articles/PMC1684964/

Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk.

Autor: Russell, Bianca E., Kianmahd, Rebecca R., Munster, Chelsea, Yu, Anna, Ahad, Leena, Tan, Wen‐Hann

Publikováno v: American Journal of Medical Genetics. Part A; Apr2023, Vol. 191 Issue 4, p1050-1058, 9p

Autism throughout genetics: Perusal of the implication of ion channels.

Autor: Daghsni, Marwa^1,2, Rima, Mohamad³, Fajloun, Ziad⁴, Ronjat, Michel^1,5, Brusés, Juan L.⁶, M'rad, Ridha^2,7, De Waard, Michel^1,5 michel.dewaard@univ-nantes.fr

Publikováno v: Brain & Behavior. Aug2018, Vol. 8 Issue 8, p1-1. 18p.

Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.

Autor: Ebstein, Frédéric, Küry, Sébastien, Papendorf, Jonas Johannes, Krüger, Elke

Publikováno v: Frontiers in Molecular Neuroscience; 9/8/2021, Vol. 14, p1-19, 19p