Giuseppina Baldassarre
Overview
Explore the profile of Giuseppina Baldassarre including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
393
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0
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Recent Articles
1.
Calcagni G, Gagliostro G, Limongelli G, Unolt M, de Luca E, Digilio M, et al.
Birth Defects Res
. 2020 Jun;
112(10):725-731.
PMID: 32558384
Background: RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary...
2.
Mazza G, Banaudi E, Ferrero G, Baldassarre G, Agnoletti G
Minerva Cardioangiol
. 2019 Mar;
67(3):256-257.
PMID: 30895763
No abstract available.
3.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, et al.
Hum Mutat
. 2019 Mar;
40(6):721-728.
PMID: 30825388
The pathogenic variants in the neuroblastoma-amplified sequence (NBAS) are associated with a clinical spectrum involving the hepatic, skeletal, ocular, and immune systems. Here, we report on two unrelated subjects with...
4.
Calcagni G, Limongelli G, DAmbrosio A, Gesualdo F, Digilio M, Baban A, et al.
Data Brief
. 2018 Mar;
16:649-654.
PMID: 29541661
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published...
5.
Calcagni G, Limongelli G, DAmbrosio A, Gesualdo F, Digilio M, Baban A, et al.
Int J Cardiol
. 2017 Aug;
245:92-98.
PMID: 28768581
Background: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description...
6.
Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, et al.
Pediatrics
. 2017 Jun;
140(1).
PMID: 28634246
Background And Objectives: The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility treatment and human procreation. We studied...
7.
Baldassarre G, Mussa A, Carli D, Molinatto C, Ferrero G
Am J Med Genet A
. 2017 Feb;
173(3):692-698.
PMID: 28211980
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized...
8.
Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, et al.
Hum Mutat
. 2017 Jan;
38(4):451-459.
PMID: 28074573
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report...
9.
Mussa A, Molinatto C, Baldassarre G, Riberi E, Russo S, Larizza L, et al.
J Pediatr
. 2016 Jul;
176:142-149.e1.
PMID: 27372391
Objective: To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome...
10.
Porta F, Mussa A, Baldassarre G, Perduca V, Farina D, Spada M, et al.
Eur J Pediatr
. 2015 Aug;
175(1):105-12.
PMID: 26264144
Conclusion: At any generation, mothers are likely to have daughters repeating their BF experience. Differently from the intergenerational effects of environmental factors responsible for the BF secular trend, this trait...