User profiles for "author:Nataliya Di Donato"
Nataliya Di DonatoVerified email at uniklinikum-dresden.de Cited by 5186 |
[HTML][HTML] International consensus recommendations on the diagnostic work-up for malformations of cortical development
R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …
of the absence of morphological clues, information about the position of such genes, and …
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
MA Deardorff, M Bando, R Nakato, E Watrin, T Itoh… - Nature, 2012 - nature.com
Abstract Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital
malformation disorder, caused by mutations in the cohesin-loading protein NIPBL, for nearly …
malformation disorder, caused by mutations in the cohesin-loading protein NIPBL, for nearly …
[PDF][PDF] Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen… - The American Journal of …, 2015 - cell.com
Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward
males. Previous studies have identified mutations in more than 100 genes on the X …
males. Previous studies have identified mutations in more than 100 genes on the X …
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
The regulated proliferation and differentiation of neural stem cells before the generation and
migration of neurons in the cerebral cortex are central aspects of mammalian development …
migration of neurons in the cerebral cortex are central aspects of mammalian development …
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz… - Human molecular …, 2014 - academic.oup.com
Abstract Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct
facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and …
facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and …
Lissencephaly: update on diagnostics and clinical management
M Koenig, WB Dobyns, N Di Donato - European Journal of Paediatric …, 2021 - Elsevier
Lissencephaly represents a spectrum of rare malformations of cortical development
including agyria, pachygyria and subcortical band heterotopia. The progress in molecular …
including agyria, pachygyria and subcortical band heterotopia. The progress in molecular …
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2
N Bögershausen, V Gatinois, V Riehmer… - Human …, 2016 - Wiley Online Library
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic
face, short stature, various organ malformations, and a variable degree of intellectual …
face, short stature, various organ malformations, and a variable degree of intellectual …
[HTML][HTML] Next-generation sequencing in X-linked intellectual disability
A Tzschach, U Grasshoff, S Beck-Woedl… - European Journal of …, 2015 - nature.com
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than
100 genes known to date. Most genes are responsible for a small proportion of patients only …
100 genes known to date. Most genes are responsible for a small proportion of patients only …