Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Elisena Morizio"'
Autor:
Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, Elisena Morizio, Paolo Guanciali Franchi
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated that 70% of sSMC are
Externí odkaz:
https://doaj.org/article/131d0329eabb4514837b4b79506ce3cd
Autor:
Domenico Dell’Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1)
Externí odkaz:
https://doaj.org/article/79f94b5d139a46d99fd0a7884f5606e0
Autor:
Giulia Sabbatinelli, Donatella Fantasia, Chiara Palka, Elisena Morizio, Melissa Alfonsi, Giuseppe Calabrese
Publikováno v:
Diagnostics, Vol 11, Iss 12, p 2239 (2021)
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid
Externí odkaz:
https://doaj.org/article/74d59ea66bcd46dbb2562a3dbb2687f2
Autor:
Chiara Palka, Paolo Guanciali-Franchi, Elisena Morizio, Melissa Alfonsi, Marco Papponetti, Giulia Sabbatinelli, Giandomenico Palka, Giuseppe Calabrese, Peter Benn
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology: X, Vol 3, Iss , Pp - (2019)
Over the past two decades, there has been a rapid evolution in prenatal screening for fetal chromosome abnormalities. Initially, testing was focused on the identification of affected pregnancies in either the first, or, the second trimester (e.g. the
Externí odkaz:
https://doaj.org/article/e903ce49e21342adb8c8b90bf7bdc0ee
Autor:
Paolo Guanciali Franchi, Chiara Palka, Elisena Morizio, Giulia Sabbatinelli, Melissa Alfonsi, Donatella Fantasia, Giammaria Sitar, Peter Benn, Giuseppe Calabrese
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189235 (2017)
From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagno
Externí odkaz:
https://doaj.org/article/0ac64c7fa5e54f85850d4216f6b62ce0
Autor:
Elisena Morizio, Melissa Alfonsi, P Guaciali-Franchi, Angelika Mohn, C Palka Bayard de Volo, Francesco Chiarelli
Publikováno v:
Journal of Intellectual Disability Research. 65:863-869
Background The recent introduction of microarrays for genetic analyses has allowed higher etiological diagnostic rates in patient with intellectual disability (ID), autism spectrum disorders (ASD), epilepsy and multiple congenital anomalies (MCA), be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9db4356d7ff124731190164530f0de
https://doi.org/10.1111/jir.12867
https://doi.org/10.1111/jir.12867
Autor:
Angela Mitidieri, Melissa Alfonsi, Ludovica Mercuri, Paolo Guanciali-Franchi, Elisena Morizio, Giacinto Cuscianna, Annunziata Anna Epifania, Domenico Dell’Edera, Mario Ventura, Arianna Allegretti
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Journal of Medical Case Reports
Journal of Medical Case Reports
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d64bb2eeb4d611894c52917fe15469cf
https://doaj.org/article/79f94b5d139a46d99fd0a7884f5606e0
https://doaj.org/article/79f94b5d139a46d99fd0a7884f5606e0
Autor:
Chiara Palka, Giuseppe Calabrese, Melissa Alfonsi, Donatella Fantasia, Giulia Sabbatinelli, Elisena Morizio
Publikováno v:
Diagnostics, Vol 11, Iss 2239, p 2239 (2021)
Diagnostics
Diagnostics
Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9a4c41bc348765cdd0728797a67051
https://www.mdpi.com/2075-4418/11/12/2239
https://www.mdpi.com/2075-4418/11/12/2239
Autor:
Valentina Gatta, Silvia Carinci, Ivana Antonucci, Gabriele Lisi, Elisena Morizio, Stefano Tumini, Melissa Alfonsi, Giuseppe Calabrese, Chiara Palka, Liborio Stuppia, Pierluigi Lelli Chiesa
Publikováno v:
Cytogenetic and genome research. 158(3)
VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d90f74077b56f06aa99ed8ed847bf7
https://pubmed.ncbi.nlm.nih.gov/31315107
https://pubmed.ncbi.nlm.nih.gov/31315107
Autor:
Giandomenico Palka, Paolo Guanciali-Franchi, Peter Benn, Chiara Palka, Giuseppe Calabrese, Elisena Morizio, Melissa Alfonsi, Giulia Sabbatinelli, Marco Papponetti
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology: X
European Journal of Obstetrics & Gynecology and Reproductive Biology: X, Vol 3, Iss, Pp-(2019)
European Journal of Obstetrics & Gynecology and Reproductive Biology: X, Vol 3, Iss, Pp-(2019)
Over the past two decades, there has been a rapid evolution in prenatal screening for fetal chromosome abnormalities. Initially, testing was focused on the identification of affected pregnancies in either the first, or, the second trimester (e.g. the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e742236ec9c5e4cb9bd456d544c9064
http://europepmc.org/articles/PMC6687402
http://europepmc.org/articles/PMC6687402