E Donti
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Explore the profile of E Donti including associated specialties, affiliations and a list of published articles.
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Articles
83
Citations
268
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Recent Articles
1.
Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, et al.
Mol Syndromol
. 2013 Jun;
4(4):197-202.
PMID: 23801936
Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal...
2.
Prontera P, Clerici G, Bernardini L, Schippa M, Capalbo A, Manes I, et al.
Genet Couns
. 2011 May;
22(1):41-8.
PMID: 21614987
We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in order to identify...
3.
Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, et al.
Eur J Neurol
. 2011 Mar;
18(10):1263-5.
PMID: 21382133
Background And Purpose: SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features. Methods: Three affected members...
4.
Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, et al.
Genet Couns
. 2010 Apr;
21(1):91-7.
PMID: 20420035
A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a three-generation family. A mother/son couple, carrying the rec dup(18q), showed dysmorphisms and short stature but...
5.
Prontera P, Ferrando B, Giuliani V, Falcinelli F, Mencarelli A, Rogaia D, et al.
Genet Couns
. 2009 Feb;
19(4):413-8.
PMID: 19239085
Familial paragangliomas/pheochromocytomas are dominantly inherited disorders characterized by the development of highly vascularized tumors of the head and neck, derived from non-chromaffin cells of the extra-adrenal paraganglia, and tumors with...
6.
Prontera P, Escande F, Cocchi G, Donti E, Martini A, Sensi A
Genet Couns
. 2009 Feb;
19(4):397-402.
PMID: 19239083
The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63. Both...
7.
Floridia G, Falbo V, Censi F, Tosto F, Salvatore M, Baroncini A, et al.
Community Genet
. 2008 May;
11(5):295-303.
PMID: 18493128
Background: The Italian external quality assessment scheme in classical cytogenetics was started in 2001 as an activity funded by the National Health System and coordinated by the Italian Public Institute...
8.
Prontera P, Aiello V, Toschi M, Turci A, Gruppioni R, Buldrini B, et al.
Genet Couns
. 2007 Nov;
18(3):309-15.
PMID: 18019372
De novo satellited non-acrocentric chromosomes are very rare findings in prenatal diagnosis. Here we report the first case of a de novo 18ps, associated with del(18p), detected at prenatal diagnosis....
9.
Pomili G, Venti Donti G, Alunni Carrozza L, Ardisia C, Servidio F, Hofstra R, et al.
Prenat Diagn
. 2000 Dec;
20(12):1012-4.
PMID: 11113917
The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities,...
10.
Sainati L, Leszl A, Putti M, Pasquali F, Maserati E, Donti E, et al.
Haematologica
. 1998 Mar;
82(6):654-9.
PMID: 9499663
Background And Objective: Cytogenetic analysis of acute leukemia yields important information which has been demonstrated to be correlated to patient survival. A reference laboratory was created in order to perform...