Claudia Cesaretti
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Explore the profile of Claudia Cesaretti including associated specialties, affiliations and a list of published articles.
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34
Citations
226
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Recent Articles
1.
Tritto V, Bettinaglio P, Mangano E, Cesaretti C, Marasca F, Castronovo C, et al.
Hum Genet
. 2024 Jun;
143(6):775-795.
PMID: 38874808
NF1 microdeletion syndrome, accounting for 5-11% of NF1 patients, is caused by a deletion in the NF1 region and it is generally characterized by a severe phenotype. Although 70% of...
2.
Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, et al.
Clin Genet
. 2023 Nov;
105(3):313-316.
PMID: 37990933
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly -...
3.
Bettinaglio P, Mangano E, Tritto V, Bordoni R, Paterra R, Borghi A, et al.
Eur J Hum Genet
. 2023 May;
31(8):931-938.
PMID: 37217626
Spinal neurofibromatosis (SNF) is a form of neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas involving all spinal roots. The pathogenic mechanisms determining the SNF form are currently unknown. To...
4.
Paterra R, Bettinaglio P, Borghi A, Mangano E, Tritto V, Cesaretti C, et al.
Cancers (Basel)
. 2023 Jan;
15(1).
PMID: 36612057
Spinal neurofibromatosis (SNF), a phenotypic subclass of neurofibromatosis 1 (NF1), is characterized by bilateral neurofibromas involving all spinal roots. In order to deepen the understanding of SNF’s clinical and genetic...
5.
Rimoldi M, Rinaldi B, Villa R, Cerasani J, Beltrami B, Iascone M, et al.
Am J Med Genet A
. 2022 Nov;
191(2):605-611.
PMID: 36416235
Coffin-Siris Syndrome (CSS) is a rare multi-system dominant condition with a variable clinical presentation mainly characterized by hypoplasia/aplasia of the nail and/or distal phalanx of the fifth digit, coarse facies,...
6.
Ronzoni L, Boito S, Meossi C, Cesaretti C, Rinaldi B, Agolini E, et al.
Prenat Diagn
. 2022 Jul;
42(12):1493-1502.
PMID: 35788948
Objective: We describe the prenatal ultrasound findings and autopsy of three fetuses with multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic etiology. We conducted a literature review...
7.
Rinaldi B, Cesaretti C, Boito S, Villa R, Guerneri S, Borzani I, et al.
Prenat Diagn
. 2022 May;
42(7):927-933.
PMID: 35584264
Objectives: To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies. Methods: The two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation....
8.
Curcio C, Giannone V, Benzoni E, Cesaretti C, Cassinerio E, Seia M, et al.
J Med Cases
. 2021 Aug;
11(4):90-93.
PMID: 34434372
Non-transfusion dependent thalassemia (NTDT) is an inherited hemoglobin disorder characterized by an α/non-α globin chain imbalance of variable severity, resulting in a wide spectrum of clinical manifestations. The coinheritance of...
9.
Esposito C, Enrico P, Sciortino D, Caletti E, Marchetti G, Cesaretti C, et al.
Front Psychiatry
. 2021 Jun;
12:689359.
PMID: 34168584
Although several studies have shown the correlation between chromosomal rearrangements and the risk of developing psychotic disorders, such as schizophrenia, little attention has been given to identifying the genetic basis...
10.
Bianchessi D, Ibba M, Saletti V, Blasa S, Langella T, Paterra R, et al.
Genes (Basel)
. 2020 Jun;
11(6).
PMID: 32575496
Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including , ,...