Francesca Novara
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Explore the profile of Francesca Novara including associated specialties, affiliations and a list of published articles.
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61
Citations
1648
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Recent Articles
1.
Galli J, Loi E, Zanardini F, Baldoni G, Novara F, Panigada S, et al.
Am J Med Genet A
. 2025 Feb;
:e64007.
PMID: 39918173
Nabais Sá-De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs...
2.
Cova G, Glaser J, Schopflin R, Prada-Medina C, Ali S, Franke M, et al.
Nat Commun
. 2023 May;
14(1):2839.
PMID: 37202388
No abstract available.
3.
Cova G, Glaser J, Schopflin R, Prada-Medina C, Ali S, Franke M, et al.
Nat Commun
. 2023 Mar;
14(1):1475.
PMID: 36928426
Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigate the functional consequences...
4.
Verdoia M, Pipan P, Viola O, Brancati M, La Cognata S, Novara F, et al.
Angiology
. 2022 Jan;
73(5):478-484.
PMID: 35049400
Efforts to reduce and optimize the radiation exposure during coronary angiography and intervention have pointed at patients' body size as a major determinant of irradiation for the patients and operators....
5.
Raviglione F, Douzgou S, Scala M, Mingarelli A, DArrigo S, Freri E, et al.
Seizure
. 2021 Apr;
88:60-72.
PMID: 33831796
Purpose: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype...
6.
Bain J, Thornburg O, Pan C, Rome-Martin D, Boyle L, Fan X, et al.
Neurol Genet
. 2021 Mar;
7(1):e551.
PMID: 33728377
Objective: To expand the clinical phenotype of the X-linked -related neurodevelopmental disorder in 33 individuals. Methods: Participants were diagnosed with pathogenic or likely pathogenic variants in using American College of...
7.
Verdoia M, Viola O, DAmico G, Ravetto C, Comoglio A, Fusco M, et al.
Crit Pathw Cardiol
. 2020 Nov;
20(2):75-80.
PMID: 33177351
Background: The optimization of the strategies for myocardial revascularization has improved the outcomes of patients with ST-segment elevation myocardial infarction. In Piedmont, the FAST-STEMI regional network was created for improving...
8.
Martinelli C, Gabriele F, Manai F, Ciccone R, Novara F, Sauta E, et al.
Cancer Genomics Proteomics
. 2020 Feb;
17(2):117-130.
PMID: 32108034
Background/aim: We herein presented a case of pediatric spinal cord pilocytic astrocytoma diagnosed on the basis of histopathological and clinical findings. Materials And Methods: Given the paucity of data on...
9.
Peron A, Novara F, La Briola F, Merati E, Giannusa E, Segalini E, et al.
Am J Med Genet A
. 2020 Jan;
182(4):823-828.
PMID: 31943778
Missense variants in HNRNPH2 cause Bain type syndromic X-linked intellectual disability (XLID). To date, only six affected females and three affected males have been reported in the literature, and the...
10.
Bonaglia M, Kurtas N, Errichiello E, Bertuzzo S, Beri S, Mehrjouy M, et al.
Hum Genet
. 2018 Oct;
137(10):817-829.
PMID: 30276538
We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or...