[HTML][HTML] Leopard syndrome

A Sarkozy, MC Digilio, B Dallapiccola - Orphanet journal of rare diseases, 2008 - Springer
Abstract LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies
condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an …

Aphid-plant interactions: a review

E Guerrieri, MC Digilio - Journal of Plant Interactions, 2008 - Taylor & Francis
Aphids are economically important insect pests of agriculture and forest crops. They feed on
phloem sap by extremely efficient mouthparts modified into long and flexible stylets …

Genetic syndromes and congenital heart defects: how is surgical management affected?

R Formigari, G Michielon, MC Digilio… - European Journal of …, 2009 - academic.oup.com
The population of neonates and children with congenital heart defects presents about a 30%
prevalence of associated genetic syndrome or additional extracardiac anomalies and may …

[HTML][HTML] Practical guidelines for managing patients with 22q11. 2 deletion syndrome

AS Bassett, DM McDonald-McGinn, K Devriendt… - The Journal of …, 2011 - jpeds.com
A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via spontaneous …

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

M Tartaglia, LA Pennacchio, C Zhao, KK Yadav… - Nature …, 2007 - nature.com
Noonan syndrome is a developmental disorder characterized by short stature, facial
dysmorphia, congenital heart defects and skeletal anomalies. Increased RAS-mitogen …

[PDF][PDF] Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

MC Digilio, E Conti, A Sarkozy, R Mingarelli… - The American Journal of …, 2002 - cell.com
Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction
abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of …

[PDF][PDF] Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

D Lederer, B Grisart, MC Digilio, V Benoit… - The American Journal of …, 2012 - cell.com
Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and
congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS …

Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal

B Marino, MC Digilio, A Toscano, A Giannotti… - The Journal of …, 1999 - Elsevier
Objective: To report the relative prevalence of various forms of congenital heart disease
(CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of …

Clinical features and follow-up in patients with 22q11. 2 deletion syndrome

C Cancrini, P Puliafito, MC Digilio, A Soresina… - The Journal of …, 2014 - Elsevier
Objective To investigate the clinical manifestations at diagnosis and during follow-up in
patients with 22q11. 2 deletion syndrome to better define the natural history of the disease …

[HTML][HTML] p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

V Pinna, V Lanari, P Daniele, F Consoli… - European Journal of …, 2015 - nature.com
Abstract Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of
neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c. 5425C> T missense …