Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Nicoletta Preziosi"'
Autor:
Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola, Pierluigi Benedetti Panici, Antonio Pizzuti, Paola Grammatico, Cinzia Marchese
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disease, characterised by the aplasia of vagina and uterus in women with a 46,XX karyotype. Most cases are sporadic, but familial recurrence has also been described. Herein, we invest
Externí odkaz:
https://doaj.org/article/e347b9c84de24178941301ab8bedf269
Publikováno v:
HLA. 93:232-233
HLA-C*04:01:106 differs from C*04:01:01:01 by a silent nucleotide substitution in exon 4.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d7475bf898b6e4d8602c19ccfbbd91
https://doi.org/10.1111/tan.13471
https://doi.org/10.1111/tan.13471
Autor:
Carmelilia De Bernardo, Giacinto Marrocco, Anna Maria Rapone, Luigi Laino, Irene Bottillo, Silvia Majore, Barbara Grammatico, Salvatore Scommegna, Paola Grammatico, Nicoletta Preziosi
Publikováno v:
Endocrine Connections
Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a772596f81e6ab2bf11de6969589f729
http://hdl.handle.net/11573/617465
http://hdl.handle.net/11573/617465
Autor:
Luigi Laino, Antonella Spagnuolo, Carmelilia De Bernardo, Marco Castori, Irene Bottillo, Paola Grammatico, Romano Fabbri, Giovanna Sforzolini Scassellati, Nicoletta Preziosi, Barbara Grammatico, Evelina Silvestri
Publikováno v:
BMC Research Notes
Background Thrombocytopenia–absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0141aeb9437d81e838423207f3c4d406
https://doi.org/10.1186/1756-0500-6-376
https://doi.org/10.1186/1756-0500-6-376
Autor:
Paola Grammatico, Lucia Pedace, Maria Stella Valentini, Nino Guarino, Brunetto Boscherini, Carmelilia De Bernardo, Giacinto Marrocco, Salvatore Scommegna, Anna Maria Rapone, Nicoletta Preziosi, Luigi Laino, Silvia Majore
Publikováno v:
American journal of medical genetics. Part A. (11)
Steroidogenic factor 1 (encoded by the NR5A1 gene) is a critical regulator of reproduction, controlling transcription of key genes involved in sexual dimorphism. To date, NR5A1 variants have been found in individuals with a 46,XY karyotype and gonada
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d602815cc1bd0a819fb391e5b7433ff8
https://pubmed.ncbi.nlm.nih.gov/25160005
https://pubmed.ncbi.nlm.nih.gov/25160005
Autor:
Paola De Simone, Valerio Mogini, Lucia Pedace, Angela Maria Cozzolino, Aldo Morrone, Caterina Catricalà, Marco Castori, Isabella Sperduti, Chiara Panetta, Carmelilia De Bernardo, Paola Grammatico, Nicoletta Preziosi
Publikováno v:
Familial cancer. 11(2)
MicroRNAs are small non-coding RNAs, which inhibit expression of specific target genes at the post-transcriptional level and are often misregulated in human cancer. Among them, miR-34a is considered a tumor suppressor with a hypothetical role in mela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed8877c3b75a86e65ca8ea679f605b2
https://pubmed.ncbi.nlm.nih.gov/22198089
https://pubmed.ncbi.nlm.nih.gov/22198089
Autor:
Davide De Brasi, Luana Barboni, Stefania Boni, Lucia Pedace, Ada Amantea, Chiara Panetta, Giovanna Zambruno, Erika Pozzetto, Francesco Benedicenti, Marco Castori, Nicoletta Preziosi, Carmelilia De Bernardo, Paola Grammatico, Carmela Ferraro
Publikováno v:
European journal of dermatology : EJD. 21(3)
Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Heterozygous mutations in ATP2A2, encoding the sarco-endoplasmic reticulum calc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852e1cd64d0cecc18d485ad0fdc553df
https://pubmed.ncbi.nlm.nih.gov/21527373
https://pubmed.ncbi.nlm.nih.gov/21527373
Autor:
Marco Castori, Marco Ritelli, Mauro Paradisi, Paola Grammatico, Marina Colombi, Nicoletta Preziosi, Michele Valiante
Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d97fb2ee49bddf19a50a557ac3d1780
http://hdl.handle.net/11573/118895
http://hdl.handle.net/11573/118895
Autor:
Silvia Majore, Carmelilia De Bernardo, Paola Grammatico, Lucia Pedace, Ivana Antigoni, Francesco Binni, Maria Cristina Mazzilli, Nicoletta Preziosi, Francesca Megiorni
Germline mutations in the adenomatous polyposis coli (APC) gene cause familial adenomatous polyposis (FAP), an autosomal dominant disease characterized by hundreds to thousands of adenomatous polyps in the colon and rectum, with progression to colore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab06b796c380958b9c61d1f3e490ac0f
http://hdl.handle.net/11573/363440
http://hdl.handle.net/11573/363440