Enrica Marchionni
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Explore the profile of Enrica Marchionni including associated specialties, affiliations and a list of published articles.
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26
Citations
84
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Recent Articles
1.
Ranucci G, Page C, Marchionni E, Minotti C, Silvestrini G, Gastaldi S, et al.
Ann Hematol
. 2024 Dec;
103(12):5999-6002.
PMID: 39672944
Recently, germline variants have also been found as contributors of disease etiology in myeloproliferative neoplasms (MPN). The consideration of such inherited traits is crucial for clinical management of patients, particularly...
2.
Marchionni E, Guadagnolo D, Mastromoro G, Pizzuti A
Eur J Hum Genet
. 2024 Mar;
32(7):759-769.
PMID: 38486024
Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates...
3.
Guadagnolo D, Mastromoro G, Torres B, Marchionni E, di Palma F, Goldoni M, et al.
Genes (Basel)
. 2023 Dec;
14(12).
PMID: 38136979
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In...
4.
Marchionni E, DApice M, Lupo V, Lattanzi G, Mattioli E, Lisignoli G, et al.
Bone Rep
. 2023 Dec;
19:101728.
PMID: 38076483
gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies. We aimed to characterize the...
5.
Zampaglione L, Rougemont A, Rubbia-Brandt L, Abramowicz M, Guipponi M, Marchionni E, et al.
ACG Case Rep J
. 2023 Aug;
10(8):e01113.
PMID: 37575491
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare cholestatic liver disease with autosomal recessive inheritance caused by mutations in the gene. The clinical presentation of PFIC3 varies significantly,...
6.
Guadagnolo D, Mastromoro G, Marchionni E, Germani A, Libi F, Sadeghi S, et al.
Biomedicines
. 2023 Jul;
11(7).
PMID: 37509701
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated () gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and...
7.
Heinzmann A, Sayah S, Lejeune F, Hahn V, Teichmann M, Monin M, et al.
Mov Disord
. 2023 Jun;
38(7):1294-1306.
PMID: 37288993
Background: Carriers of small cytosine-adenine-guanine (CAG) repeats below 39 in the HTT gene are traditionally associated with milder Huntington's disease, but their clinical profile has not been extensively studied. Objective:...
8.
Di Lorenzo F, Marchionni E, Ferradini V, Latini A, Pezzoli L, Martino A, et al.
Int J Mol Sci
. 2023 Feb;
24(3).
PMID: 36768812
Variants in desmoplakin gene ( MIM *125647) have been usually associated with Arrhythmogenic Cardiomyopathy (ACM), or Dilated Cardiomyopathy (DCM) inherited in an autosomal dominant manner. A cohort of 18 probands,...
9.
Mastromoro G, Guadagnolo D, Marchionni E, Torres B, Goldoni M, Onori A, et al.
Am J Med Genet A
. 2023 Jan;
191(4):1101-1106.
PMID: 36598152
Mosaic genome-wide paternal uniparental disomy (GWpUPD) is a rare condition in which two euploid cell lines coexist in the same individual, one with biparental content and one with genome-wide paternal...
10.
Mastromoro G, Guadagnolo D, Marchionni E, Giancotti A, Giuffrida M, Bernardini L, et al.
Eur J Obstet Gynecol Reprod Biol
. 2022 Apr;
272:251-252.
PMID: 35437158
No abstract available.