User profiles for "author:Nataliya Di Donato"

Nataliya Di Donato

Verified 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 …

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 …

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 …

[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 …

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

S Cappello, MJ Gray, C Badouel, S Lange… - Nature …, 2013 - nature.com
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 …

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

K Platzer, H Yuan, H Schütz, A Winschel… - Journal of medical …, 2017 - jmg.bmj.com
Background We aimed for a comprehensive delineation of genetic, functional and
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 …

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 …

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 …

[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 …