Mariateresa Falco
Overview
Explore the profile of Mariateresa Falco including associated specialties, affiliations and a list of published articles.
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16
Citations
149
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Recent Articles
1.
Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, et al.
Clin Genet
. 2022 Jul;
102(4):314-323.
PMID: 35842840
The prevalence of Beckwith-Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART-BWSp patients reported so far display imprinting center 2...
2.
Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, et al.
Birth Defects Res
. 2022 Jun;
114(13):759-767.
PMID: 35716097
Background: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription...
3.
Ferrara U, Tortora C, Rosano C, Assunto A, Rossi A, Pagano S, et al.
Sci Rep
. 2022 Mar;
12(1):4368.
PMID: 35288591
Bone metabolism has been rarely investigated in children affected by Neurofibromatosis type 1 (NF1). Aim of the present study was to assess bone mineral metabolism in children and adults NF1...
4.
Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, et al.
Orphanet J Rare Dis
. 2021 Dec;
16(1):499.
PMID: 34857025
Background: Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and...
5.
Fontana P, Bernardini L, Lombardi C, Giuffrida M, Ciavarella M, Capalbo A, et al.
J Pediatr Genet
. 2021 Sep;
10(3):245-249.
PMID: 34504730
Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus,...
6.
Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, et al.
Eur J Pediatr
. 2021 Jul;
181(1):171-187.
PMID: 34232366
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less...
7.
DAmico A, Cipullo M, Falco M, Ugga L, Melis D
Childs Nerv Syst
. 2021 Apr;
37(12):3963-3966.
PMID: 33811550
Noonan syndrome (NS) is an autosomal dominant disease caused by aberrant up-regulated signaling through RAS GTPase. It is characterized by facial dysmorphisms, short stature, congenital heart defects, malformations of rib...
8.
Falco M, Amabile S, Acquaviva F
Appl Clin Genet
. 2017 Nov;
10:85-94.
PMID: 29138588
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2...
9.
Falco M, Franze A, Iossa S, De Falco L, Gambale A, Marciano E, et al.
Am J Med Genet A
. 2017 Mar;
173(5):1348-1352.
PMID: 28322498
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more...
10.
Fontana P, Tortora C, Petillo R, Falco M, Miniero M, De Brasi D, et al.
Am J Med Genet A
. 2016 Jul;
170(9):2445-8.
PMID: 27374896
5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild...