Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Antonietta Lombardo"'
Autor:
Francesca Torricelli, Cecilia Surace, F. Alghisi, Adriano Angioni, Maja Rossi, Stefano Petrocchi, Antonietta Lombardo, Anna Cristina Tomaiuolo, Claudia Centrone, Vincenzina Lucidi, Pietro Sirleto
Publikováno v:
Clinical Biochemistry. 44:799-803
Objectives To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. Design and methods We performed a wide mutational analysis of CFTR gene, using reverse dot blot,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bc5e3d7a8ebca9e8fcd02843e16559f
https://doi.org/10.1016/j.clinbiochem.2011.03.140
https://doi.org/10.1016/j.clinbiochem.2011.03.140
Autor:
Antonietta Lombardo, Helena Santos, Cecilia Surace, Elsa Bevivino, Pietro Sirleto, Carlo Dionisi-Vici, Adriano Angioni, Enrico Bertini, Sara Boenzi, Anna Cristina Tomaiuolo
Publikováno v:
Pediatric Research. 65:347-351
Menkes disease (MD) is a rare and severe X-linked recessive disorder of copper metabolism. The MD gene, ATP7A (ATPase Cu++ transporting alpha polypeptide), encodes an ATP-dependent copper-binding membrane protein. In this report, we describe a girl w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d69966d0023f26c0874b97e7c92f88c
https://doi.org/10.1203/pdr.0b013e3181973b4e
https://doi.org/10.1203/pdr.0b013e3181973b4e
Autor:
Cecilia Surace, Adriano Angioni, Maria Cristina Roberti, P. Sirleto, M. C. Digilio, Antonietta Lombardo, A.C. Tomaiuolo, Rossella Capolino
Publikováno v:
Cytogenetic and Genome Research. 121:215-221
Cytogenetic analyses of constitutional diseases have disclosed several chromosomal rearrangements. At the molecular level, these rearrangements often result in the breakage of genes or alteration of genome architecture. Fluorescence in situ hybridiza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e18241d8c3bd4920aaec95acb37888
https://doi.org/10.1159/000138888
https://doi.org/10.1159/000138888
Autor:
Adriano Angioni, Gemma D'Elia, Rossella Capolino, Serena Russo, Laura Ciocca, Anwar Baban, Bruno Dallapiccola, Bruno Marino, Pietro Sirleto, M. Cristina Roberti, Stefano Petrocchi, Antonietta Lombardo, M. Cristina Digilio
Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect (CHD), associated with extracardiac anomalies in the 15-28% of cases, in the setting of chromosomal anomalies, mendelian disorders, and organ defects. We report on a syndromic f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a1cc5aad97b60706e490f983099c79
http://hdl.handle.net/11573/1193935
http://hdl.handle.net/11573/1193935
Autor:
Adriano Angioni, M. C. Digilio, Benedetto Marino, Aldo Giannotti, B Dallapiccola, M. De Santis, Antonietta Lombardo
Publikováno v:
Clinical Genetics. 63:308-313
The 22q11.2 deletion (del22q11.2) syndrome is a genetic condition with wide interfamilial and intrafamilial variability in clinical expression. The aim of the present study was to review the prevalence of parental transmission in our series of patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6a7dc18b8f8c7bbddfcc2ddc08a4963
https://doi.org/10.1034/j.1399-0004.2003.00049.x
https://doi.org/10.1034/j.1399-0004.2003.00049.x
Autor:
Rosa Luciano, Alessandra Fierabracci, Armando Grossi, Antonietta Lombardo, Marco Cappa, Antonino Crinò
Publikováno v:
Italian Journal of Pediatrics
Background Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68955299d51e535a85c3999b2ea7f55a
https://doi.org/10.1186/1824-7288-39-79
https://doi.org/10.1186/1824-7288-39-79
Autor:
Adriano Angioni, Anna Cristina Tomaiuolo, Maria Cristina Roberti, Gemma D'Elia, Maria Cristina Digilio, Stefano Petrocchi, Antonietta Lombardo, Pietro Sirleto, Rossella Capolino, Cecilia Surace
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 17 (2011)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::410281c8bebb46feb9aff9e289d00e75
http://www.ojrd.com/content/6/1/17
http://www.ojrd.com/content/6/1/17
Autor:
Cecilia Surace, Mc Roberti, Mc Digilio, Rossella Capolino, S Piazzolla, Stefano Petrocchi, Adriano Angioni, Antonietta Lombardo, Ac Tomaiuolo, Pietro Sirleto, M El Hachem, Gemma D'Elia, Antonella Sgura, D Claps Sepulveda
Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller–Dieker critical region (MDCR). Presence of the MDCR is associated with a mild phenotype, including growth delay (GD), mental retardation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd7914ac7529eb3321d9128336467a2e
https://hdl.handle.net/11590/124129
https://hdl.handle.net/11590/124129
Autor:
Cristina Mordenti, Massimo Governatori, Paola Grammatico, Giuseppe Del Porto, Antonietta Lombardo, Monica Poscente
Publikováno v:
Cancer genetics and cytogenetics. 90(2)
To contribute to the knowledge on tumorigenesis and the evolution of urothelial carcinoma of the ureter, we analyzed the clinical, histological, and cytogenetic aspects of a case. Primary cell cultures obtained from tumor specimens showed a trisomy o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac969e67de91c8a09b4153f67c90c42
https://pubmed.ncbi.nlm.nih.gov/8830722
https://pubmed.ncbi.nlm.nih.gov/8830722