Výsledky vyhledávání - "Silvia M, Sirchia"

Akademický článek

Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review

Autor: Laura Fontana, Silvia M. Sirchia, Chiara Pesenti, Giovanni Maria Colpi, Monica R. Miozzo

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

Recent advancements in reproductive medicine have guided novel strategies for addressing male infertility, particularly in cases of non-obstructive azoospermia (NOA). Two prominent invasive interventions, namely testicular sperm extraction (TESE) and

Externí odkaz: https://doaj.org/article/5cc6ce4cbbf744bd89944d75233d34c7

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Akademický článek

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome

Autor: Laura Fontana, Maria F. Bedeschi, Giulia A. Cagnoli, Jole Costanza, Nicola Persico, Silvana Gangi, Matteo Porro, Paola F. Ajmone, Patrizia Colapietro, Carlo Santaniello, Milena Crippa, Silvia M. Sirchia, Monica Miozzo, Silvia Tabano

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

Abstract Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have

Externí odkaz: https://doaj.org/article/48c480006d9d43f9a00c6543aa3619d4

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Akademický článek

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

Autor: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

Abstract Background Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Sy

Externí odkaz: https://doaj.org/article/d6777ba42dcd4433ae219687367c081d

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Primary TSC2

Autor: Clara, Bernardelli, Eloisa, Chiaramonte, Silvia, Ancona, Silvia M, Sirchia, Amilcare, Cerri, Elena, Lesma

Publikováno v: International journal of molecular sciences. 23(17)

Cutaneous lesions are one of the hallmarks of tuberous sclerosis complex (TSC), a genetic disease in which mTOR is hyperactivated due to the lack of hamartin or tuberin. To date, novel pharmacological treatments for TSC cutaneous lesions that are ben

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6a89b45a6f1f94d6245da239ad92c90b
https://pubmed.ncbi.nlm.nih.gov/36077111

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Extensive Placental Methylation Profiling in Normal Pregnancies

Autor: Luciano Calzari, Carlo Santaniello, Enrico Ferrazzi, Jole Costanza, Silvia M. Sirchia, Davide Gentilini, Luigi Corsaro, Monica Miozzo, Silvia Motta, Silvia Tabano, Tatjana Radaelli, Margherita Camanni, Silvano Bosari, Ornella Rondinone, Laura Fontana, Patrizia Colapietro, Alessio Murgia

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 2136, p 2136 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 22; Issue 4; Pages: 2136

The placental methylation pattern is crucial for the regulation of genes involved in trophoblast invasion and placental development, both key events for fetal growth. We investigated LINE-1 methylation and methylome profiling using a methylation EPIC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb6b7be10476b5c6b59b25a65097a4e
https://pubmed.ncbi.nlm.nih.gov/35628670

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Assessment of pregnancy dietary intake and association with maternal and neonatal outcomes

Publikováno v: Pediatric research. 91(7)

Background Maternal dietary habits are contributors of maternal and fetal health; however, available data are heterogeneous and not conclusive. Methods Nutrient intake during pregnancy was assessed in 503 women with uncomplicated pregnancies, using t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01a9a2f37507290a235a67d0fcd433ba
https://pubmed.ncbi.nlm.nih.gov/34344991

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(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome

Autor: Carlo Santaniello, Jole Costanza, Nicola Persico, Giulia Anna Cagnoli, Patrizia Colapietro, Monica Miozzo, Silvia Tabano, Paola Francesca Ajmone, Silvana Gangi, Milena Crippa, Laura Fontana, Silvia M. Sirchia, Maria Francesca Bedeschi, Matteo Porro

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have been dra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e858efd8305a29931d5b39a9c1374f7
https://doi.org/10.1002/mgg3.1386

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Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients

Autor: Marta La Vecchia, Matthieu Pesant, Beatrice Bodega, Davide Rovina, Laura Fontana, Silvia M. Sirchia, Silvia Maitz, Monica Miozzo, Silvia Tabano, Alice Cortesi

Publikováno v: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-19 (2020)

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting-related disorders associated with genetic/epigenetic alterations of the 11p15.5 region, which harbours two clusters of imprinted genes (IGs). 11p15.5 IGs are regulated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f21ede865dc68ba11b41159f83b1c618
https://doi.org/10.1038/s41598-020-65082-1

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DNA methylation in the diagnosis of monogenic diseases

Publikováno v: Genes, Vol 11, Iss 4, p 355 (2020)
Genes
Genes (Basel) 11 (2020). doi:10.3390/genes11040355
info:cnr-pdr/source/autori:Cerrato F.; Sparago A.; Ariani F.; Brugnoletti F.; Calzari L.; Coppede F.; De Luca A.; Gervasini C.; Giardina E.; Gurrieri F.; Nigro C.L.; Merla G.; Miozzo M.; Russo S.; Sangiorgi E.; Sirchia S.M.; Squeo G.M.; Tabano S.; Tabolacci E.; Torrente I.; Genuardi M.; Neri G.; Riccio A./titolo:DNA methylation in the diagnosis of monogenic diseases/doi:10.3390%2Fgenes11040355/rivista:Genes (Basel)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:11

DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac694588a96c674d3da2897066d3b828
http://hdl.handle.net/11588/873905

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