<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">De Rocco, Daniela</style></author><author><style face="normal" font="default" size="100%">Bottega, Roberta</style></author><author><style face="normal" font="default" size="100%">Cappelli, Enrico</style></author><author><style face="normal" font="default" size="100%">Cavani, Simona</style></author><author><style face="normal" font="default" size="100%">Criscuolo, Maria</style></author><author><style face="normal" font="default" size="100%">Nicchia, Elena</style></author><author><style face="normal" font="default" size="100%">Corsolini, Fabio</style></author><author><style face="normal" font="default" size="100%">Greco, Chiara</style></author><author><style face="normal" font="default" size="100%">Borriello, Adriana</style></author><author><style face="normal" font="default" size="100%">Svahn, Johanna</style></author><author><style face="normal" font="default" size="100%">Pillon, Marta</style></author><author><style face="normal" font="default" size="100%">Mecucci, Cristina</style></author><author><style face="normal" font="default" size="100%">Casazza, Gabriella</style></author><author><style face="normal" font="default" size="100%">Verzegnassi, Federico</style></author><author><style face="normal" font="default" size="100%">Cugno, Chiara</style></author><author><style face="normal" font="default" size="100%">Locasciulli, Anna</style></author><author><style face="normal" font="default" size="100%">Farruggia, Piero</style></author><author><style face="normal" font="default" size="100%">Longoni, Daniela</style></author><author><style face="normal" font="default" size="100%">Ramenghi, Ugo</style></author><author><style face="normal" font="default" size="100%">Barberi, Walter</style></author><author><style face="normal" font="default" size="100%">Tucci, Fabio</style></author><author><style face="normal" font="default" size="100%">Perrotta, Silverio</style></author><author><style face="normal" font="default" size="100%">Grammatico, Paola</style></author><author><style face="normal" font="default" size="100%">Hanenberg, Helmut</style></author><author><style face="normal" font="default" size="100%">Della Ragione, Fulvio</style></author><author><style face="normal" font="default" size="100%">Dufour, Carlo</style></author><author><style face="normal" font="default" size="100%">Savoia, Anna</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.</style></title><secondary-title><style face="normal" font="default" size="100%">Haematologica</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Haematologica</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Amino Acid Substitution</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Line</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Computational Biology</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Nucleic Acid</style></keyword><keyword><style  face="normal" font="default" size="100%">Fanconi Anemia</style></keyword><keyword><style  face="normal" font="default" size="100%">Fanconi Anemia Complementation Group Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Founder Effect</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Mosaicism</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">99</style></volume><pages><style face="normal" font="default" size="100%">1022-31</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated probands enrolled into the National Network of the Italian Association of Pediatric Hematoly and Oncology. In approximately half of these cases, mutational screening was carried out after retroviral complementation analyses or protein analysis. In the other half, the analysis was performed on the most frequently mutated genes or using a next generation sequencing approach. We identified 108 distinct variants of the FANCA, FANCG, FANCC, FANCD2, and FANCB genes in 85, 9, 3, 2, and 1 families, respectively. Despite the relatively high number of private mutations, 45 of which are novel Fanconi anemia alleles, 26% of the FANCA alleles are due to 5 distinct mutations. Most of the mutations are large genomic deletions and nonsense or frameshift mutations, although we identified a series of missense mutations, whose pathogenetic role was not always certain. The molecular diagnosis of Fanconi anemia is still a tiered procedure that requires identifying candidate genes to avoid useless sequencing. Introduction of next generation sequencing strategies will greatly improve the diagnostic process, allowing a rapid analysis of all the genes.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24584348?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Pivetta, Emanuele</style></author><author><style face="normal" font="default" size="100%">Maule, Milena M</style></author><author><style face="normal" font="default" size="100%">Pisani, Paola</style></author><author><style face="normal" font="default" size="100%">Zugna, Daniela</style></author><author><style face="normal" font="default" size="100%">Haupt, Riccardo</style></author><author><style face="normal" font="default" size="100%">Jankovic, Momcilo</style></author><author><style face="normal" font="default" size="100%">Aricò, Maurizio</style></author><author><style face="normal" font="default" size="100%">Casale, Fiorina</style></author><author><style face="normal" font="default" size="100%">Clerico, Anna</style></author><author><style face="normal" font="default" size="100%">Cordero di Montezemolo, Luca</style></author><author><style face="normal" font="default" size="100%">Kiren, Valentina</style></author><author><style face="normal" font="default" size="100%">Locatelli, Franco</style></author><author><style face="normal" font="default" size="100%">Palumbo, Giovanna</style></author><author><style face="normal" font="default" size="100%">Pession, Andrea</style></author><author><style face="normal" font="default" size="100%">Pillon, Marta</style></author><author><style face="normal" font="default" size="100%">Santoro, Nicola</style></author><author><style face="normal" font="default" size="100%">Terenziani, Monica</style></author><author><style face="normal" font="default" size="100%">Valsecchi, Maria Grazia</style></author><author><style face="normal" font="default" size="100%">Dama, Elisa</style></author><author><style face="normal" font="default" size="100%">Magnani, Corrado</style></author><author><style face="normal" font="default" size="100%">Merletti, Franco</style></author><author><style face="normal" font="default" size="100%">Pastore, Guido</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Italian Association of Pediatric Hematology and Oncology (AIEOP) Group</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Marriage and parenthood among childhood cancer survivors: a report from the Italian AIEOP Off-Therapy Registry.</style></title><secondary-title><style face="normal" font="default" size="100%">Haematologica</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Haematologica</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Follow-Up Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Hematologic Neoplasms</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant, Newborn</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Marriage</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Parents</style></keyword><keyword><style  face="normal" font="default" size="100%">Registries</style></keyword><keyword><style  face="normal" font="default" size="100%">Survivors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">96</style></volume><pages><style face="normal" font="default" size="100%">744-51</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;The aim of this study was to describe the patterns of marriage and parenthood in a cohort of childhood cancer survivors included in the Off-Therapy Registry maintained by the Italian Association of Pediatric Hematology and Oncology.&lt;/p&gt;&lt;p&gt;&lt;b&gt;DESIGN AND METHODS: &lt;/b&gt;We analyzed a cohort of 6,044 patients diagnosed with cancer between 1960 and 1998, while aged 0 to 14 years and who were 18 years old or older by December 2003. They were followed up through the regional vital statistics registers until death or the end of follow up (October 30, 2006), whichever occurred first, and their marital status and date of birth of their children were recorded. The cumulative probabilities of being married and having a first child were computed by gender and compared by tumor type within the cohort. Marriage and fertility rates (the latter defined as the number of live births per woman-year) were compared with those of the Italian population of the same age, gender, area of residence and calendar period by means of the observed to expected (O/E) ratios.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;During the follow-up period, 4,633 (77%) subjects had not married. The marriage O/E ratios were 0.56 (95% CI: 0.51-0.61) and 0.70 (95% CI: 0.65-0.76) among men and women, respectively. Overall, 263 men had 367 liveborn children, and 473 women had 697 liveborn children. The female fertility O/E ratio was 0.57 (95% CI: 0.53-0.62) overall, and 1.08 (95% CI: 0.99-1.17) when analyses were restricted to married/cohabiting women&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Childhood cancer survivors are less likely to marry and to have children than the general population, confirming the life-long impact of their previous disease on their social behavior and choices. The inclusion of counseling in the strategies of management and long-term surveillance of childhood cancer patients could be beneficial to survivors as they approach adulthood.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21228031?dopt=Abstract</style></custom1></record></records></xml>