Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Valeria Romanelli"'
Autor:
Maurizio Poli, Laura Girardi, Marco Fabiani, Martina Moretto, Valeria Romanelli, Cristina Patassini, Daniela Zuccarello, Antonio Capalbo
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Recent advancements in genomic analysis allow testing of an increasing number of genetic features in human preimplantation embryos. Typical single gene mutation and whole chromosomes testing can now be integrated with assessment of mitochondrial DNA
Externí odkaz:
https://doaj.org/article/c14103dc49a24848a0286c48013dbde2
Autor:
Leila Cabral de Almeida, Cardoso, Alejandro, Parra, Cristina Ríos, Gil, Pedro, Arias, Natalia, Gallego, Valeria, Romanelli, Piranit Nik, Kantaputra, Leonardo, Lima, Juan Clinton, Llerena Júnior, Claudia, Arberas, Encarna, Guillén-Navarro, Julián, Nevado, Spanish OverGrowth Registry Initiative, Jair, Tenorio-Castano, Pablo, Lapunzina
Publikováno v:
Cancers. 14(15)
Beckwith-Wiedemann syndrome spectrum (BWSp) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. Clinical features include overgrowth, macroglossia, neonatal hypoglycaemia, omphalocele, hemihyperplasia, cleft pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fbbd91752bf282c38a91de69af97d2fc
https://pubmed.ncbi.nlm.nih.gov/35954470
https://pubmed.ncbi.nlm.nih.gov/35954470
Publikováno v:
Panminerva medica. 61(1)
Preimplantation genetic testing is a methodology aimed at the assessment of the genetic composition of an embryo. This diagnostic approach has been used in assisted reproduction for almost thirty years. During these years, the technologies used for e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ecba3e1e44170d82f500f83ce6045a
https://pubmed.ncbi.nlm.nih.gov/29962185
https://pubmed.ncbi.nlm.nih.gov/29962185
Autor:
Paolo Emanuele Levi-Setti, Cristina Patassini, Valeria Romanelli, Elena Albani, Erminia Alviggi, Laura Rienzi, Francesca Benini, Danilo Cimadomo, Antonio Capalbo, Filippo Maria Ubaldi, Claudia Livi, Letizia Papini, Ludovica Dusi, Antonella Smeraldi
Publikováno v:
Human reproduction (Oxford, England). 33(10)
Study question Can a second round of biopsy, vitrification and chromosomal testing provide a valid diagnosis where the first attempt fails? Summary answer The risk of inconclusive chromosomal-assessment after trophectoderm biopsy was 2.5% but a furth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347453f3423a28488b1bf4b308ff9bc0
https://pubmed.ncbi.nlm.nih.gov/30239718
https://pubmed.ncbi.nlm.nih.gov/30239718
Autor:
Valeria Romanelli, Maurizio Poli, Antonio Capalbo, Filippo Maria Ubaldi, Laura Girardi, Laura Rienzi, Danilo Cimadomo, Cristina Patassini
Human reproduction is often impaired because of aneuploidies in the embryo. Aneuploidies are the leading cause of implantation failure, miscarriage, mental retardation, and congenital defects. The most prevalent imbalances are constitutive whole-chro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::014f43f453fdd3b3fc23fbd0f9ee1421
https://doi.org/10.1016/b978-0-12-801238-3.64928-0
https://doi.org/10.1016/b978-0-12-801238-3.64928-0
Autor:
K. Boynukalin, Antonio Capalbo, Maurizio Poli, Danilo Cimadomo, Valeria Romanelli, Necati Findikli, M. Bahceci, Laura Girardi, Filippo Maria Ubaldi, Carlos Simón, C. Rubio Lluesa, Laura Rienzi, Onder Coban, Cristina Patassini, Munevver Serdarogullari, M. Fabiani
Publikováno v:
Reproductive BioMedicine Online. 39:e18-e19
Introduction The introduction of highly sensitive Next Generation Sequencing (NGS) platforms for PGT-A applications concurred with an increased detection of segmental aneuploidies. Recent studies focused on understanding whether segmental aneuploidie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db11f3b22899817245840a58e2b30db5
https://doi.org/10.1016/j.rbmo.2019.04.043
https://doi.org/10.1016/j.rbmo.2019.04.043
Autor:
Naoko Sugahara, Isabel Iglesias-Platas, David Monk, Carlos Simón, Alex Martin-Trujillo, Chiharu Tayama, Tsutomu Ogata, Julie V. Harness, Franck Court, Jose V. Sanchez-Mut, Manel Esteller, Kazuhiko Nakabayashi, Valeria Romanelli, Kohji Okamura, Hidenobu Soejima, Norio Wake, Kenichiro Hata, Pablo Lapunzina, Eisuke Kaneki, Harry Moore, Hans S. Keirstead
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Universidad de Barcelona
Genomic imprinting is a form of epigenetic regulation that results in the expression of either the maternally or paternally inherited allele of a subset of genes (Ramowitz and Bartolomei 2011). This imprinted expression of transcripts is crucial for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e46d2d78df5c9fd3aa26e4bb554eea4f
https://doi.org/10.1101/gr.164913.113
https://doi.org/10.1101/gr.164913.113
Autor:
Antonio Capalbo, Valeria Romanelli, Laura Rienzi, Danilo Cimadomo, Maurizio Poli, Filippo Maria Ubaldi
Publikováno v:
Reproductive BioMedicine Online. 36:e7-e8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c02224f0db50566ffeb2415ffdfbfe7
https://doi.org/10.1016/j.rbmo.2017.10.018
https://doi.org/10.1016/j.rbmo.2017.10.018
Autor:
Domenico Dell’Edera, Laura Rienzi, Antonio Capalbo, Lisa Dovere, Marta Stoppa, Danilo Cimadomo, Laura Girardi, Filippo Maria Ubaldi, Valeria Romanelli
For an IVF clinic that wishes to implement preimplantation genetic diagnosis for monogenic diseases (PGD) and for aneuploidy testing (PGD-A), a global improvement is required through all the steps of an IVF treatment and patient care. At present, CCS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c667f29486b069e1876691a6f48ab5d7
https://europepmc.org/articles/PMC5065548/
https://europepmc.org/articles/PMC5065548/
Autor:
Manel Esteller, Julián Nevado, Mabel Segovia, Elena Vallespín, Victor Martinez-Glez, Sixto García-Miñaur, Irene Dapía, Gema Gordo, Pablo Lapunzina, Alex Martin-Trujillo, Claudia Perandones, Pedro Arias, María Palomares, Rocío Mena, Luis A. Pérez Jurado, Valeria Romanelli, Jair Tenorio, García-Moya Fernández, David Monk, Guiomar Perez de Nanclares, Fernando Santos-Simarro, Mario F. Fraga
Publikováno v:
American journal of medical genetics. Part A. 170(10)
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. The molecular basis of this syndrome is complex and heterogeneous, involving genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e97e8146792f8ff64ae4a1c8f5a3809
https://pubmed.ncbi.nlm.nih.gov/27480579
https://pubmed.ncbi.nlm.nih.gov/27480579