Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Ludovica Volpi"'
1
An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome
Autor: T. S. Hoe, Pauline Balraj, A. Rahman A. Jamal, Ludovica Volpi, Alessandro Beghini, Patrick Concannon, Alan Soo-Beng Khoo
Publikováno v: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 508:99-105
Rothmund–Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b16767f43e286fb8529a9c4e0d3df43c
https://doi.org/10.1016/s0027-5107(02)00189-6
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2
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome
Autor: Lidia Larizza, Pierangela Castorina, Leda Dalprà, Alan Khoo, Carla Rosenberg, Paola Riva, Tuck S. Hoe, Anna Conti, Joop Wiegant, Monica Miozzo, Ludovica Volpi
Publikováno v: ResearcherID
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis associated with increased risk of mesenchymal tumors. The putative gene has been provisionally assigned to chromosome 8. Using a cytogenetic-molecular approach, we studied l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cbaba2f84fe4835c33d1e7e9809a4e1
https://doi.org/10.1002/(sici)1097-0215(19980812)77:4<504::aid-ijc5>3.0.co
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3
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Autor: Lidia Larizza, J. Fernando Bazan, Cristina Gervasini, Gloria Negri, Nursel Elcioglu, Anna Teti, İlknur Kıvanç Altunay, Albert C. Yan, Ludovica Volpi, Elisa Colombo, Deniz Yucelten, Spencer K. Sullivan, Andrea Del Fattore, Umram Cetincelik, Matteo Luciani
Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 7 (2012)
Background Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients. Results We characterize six PN patients expanding the clinical pheno
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9550970083f591b52edc0a57e21c28d
https://doi.org/10.1186/1750-1172-7-7
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4
Differential induction of the two early genesc-jun andc-fos in weakly and strongly metastatic murine lymphoma cell lines
Autor: Lidia Larizza, Stefano Fumagalli, Ludovica Volpi, Dunicla Rossi
Publikováno v: International Journal of Cancer. 57:86-89
Induction of the 2 early-response genes c-jun and c-fos was investigated in the weakly metastatic T-lymphoma Eb line and the related strongly metastatic lymphomacrophage ESb line to find possible correlations with their different in vitro and in vivo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77427b8473a3f087d4afb2448ed97c09
https://doi.org/10.1002/ijc.2910570116
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5
On the Parental Origin of the X Chromosomes in a 49,XXXXX Fetus
Autor: P. Vergani, Paola Riva, Leda Dalprà, M. G. Tibiletti, Lidia Larizza, Ludovica Volpi
Publikováno v: Journal of Maternal-Fetal and Neonatal Medicine. 3:235-238
Intrauterine growth retardation and multiple malformations ascertained by echography allowed prenatal diagnosis of penta X syndrome at the 35th week of gestation. The proband's phenotype at birth was consistent with the antenatal observations and the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7fba39dcb652abded2b9269b40af9466
https://doi.org/10.3109/14767059409017284
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6
Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
Autor: Maria Antonietta Mencarelli, Daniela Concolino, Michele Fimiani, Nico Leijsten, Fabio Macciardi, Rolph Pfundt, Lidia Larizza, Gaia Roversi, Eric F.P.M. Schoenmakers, Ludovica Volpi, Andrea Calabria, Elisa Colombo
Publikováno v: American Journal of Human Genetics, 86, 72-6
American Journal of Human Genetics, 86, 1, pp. 72-6
The American Journal of Human Genetics; Vol 86
Item does not contain fulltext Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions. Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b8b7a1ee0c4eedc67b6746fd1b8b61
https://europepmc.org/articles/PMC2933345/
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7
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype
Autor: S. Sestito, Daniela Concolino, Ludovica Volpi, Pietro Strisciuglio, G. Muzzi, Elisa Colombo, Lidia Larizza, Gaia Roversi
Publikováno v: American journal of medical genetics. Part A. (10)
We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dab790d54da0a9417e22b29c06a7322
https://pubmed.ncbi.nlm.nih.gov/20734427
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10
Evidence of cell fragility caused by gene kil following λ induction
Autor: Daniela Ghisotti, Ludovica Volpi, Gianpiero Sironi
Publikováno v: Virology. 128:166-175
Escherichia coli cells carrying lambda cI857 prophage lyse 40 min after lambda thermoinduction; the lysis depends on the lambda genes Q, R, and S. If chloramphenicol (CAP) is added within 20 min after lambda cI857 induction, an early, unproductive ly
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ec0f2bad7ed21cef0874752a9d8ded1
https://doi.org/10.1016/0042-6822(83)90327-6
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