Search Results - "Grignani, P."
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Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors
Published in Hormone and metabolic research (01-06-2015)“…Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by fetal macrosomia, macroglossia, and abdominal wall defects. BWS patients are at…”
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The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045
Published in Forensic science international : genetics (01-01-2013)“…Abstract The 2011 collaborative exercise of the ISFG Italian Working Group GeFI was aimed at validating the five ENFSI/EDNAP miniSTR loci D1S1656, D2S441,…”
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3
Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T
Published in Forensic science international : genetics (01-12-2009)“…Abstract Mitochondrial DNA (mtDNA) U/K and J/T are sister haplogroups within the superhaplogroup R. They are both common in Europe, with a combined overall…”
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4
Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification
Published in International journal of legal medicine (01-05-2006)“…Sequence variation of the hypervariable segments (HVS) I/II of mitochondrial DNA (mtDNA) and the haplogroup affiliation were determined in a sample of 271…”
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5
Y-chromosomal STR haplotypes in an Albanian population sample
Published in Forensic science international (26-09-2002)“…Eight Y-chromosomal short tandem repeats (STRs), DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393 and DYS385, were typed in a population sample (…”
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6
Highly informative Y-chromosomal haplotypes by the addition of three new STRs DYS437, DYS438 and DYS439
Published in International journal of legal medicine (2000)“…The Y chromosome STRs DYS437, DYS438 and DYS439 were selected from publicly available genome databases and used to analyse an Italian population sample. A…”
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7
Allele distribution of five X-chromosome STR loci in an Italian population sample
Published in International Congress series (01-04-2004)“…Population genetic data for five X-chromosomal STR loci (DXS7423, DXS6789, DXS6795, DXS9898 and DXS8377) were generated by analysing a population sample from…”
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8
Capillary electrophoresis reveals DNA damage in aged forensic samples
Published in International Congress series (01-04-2004)“…Capillary electrophoresis was used to analyse aged forensic DNA samples. A good correlation between DNA damage and reliability of PCR typing results was found…”
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9
Evaluation of vaginal mRNA markers in women from different age groups: A GeFI collaborative study
Published in Forensic science international. Genetics supplement series (01-12-2019)“…Forensic mRNA profiling assays normally include a set of vaginal-specific markers. Although it is known that vagina undergoes characteristic age-related…”
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10
Analysis of recombination and mutation events for 12 X-Chr STR loci: A collaborative family study of the Italian Speaking Working Group Ge.F.I
Published in Forensic science international. Genetics supplement series (01-12-2019)“…According to the ISFG guidelines on the use of X-chromosome, the biostatistical evaluation in kinship analysis is based on a likelihood ratio approach, but…”
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11
Italian population data for the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045. The GeFI collaborative exercise and concordance study
Published in Forensic science international. Genetics supplement series (01-12-2011)“…A collaborative exercise of the ISFG Italian Working Group GeFI was organised to investigate the five new ENFSI/EDNAP miniSTR loci D1S1656, D2S441, D10S1248,…”
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12
A multicentric study of SE33 allele frequencies in the Italian population
Published in International Congress series (2003)“…Allele and genotype frequencies for STR SE33 were obtained for a sample of 419 Italians in view of application in personal identification and paternity…”
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13
Systematic study on the analytical parameters relevant to achieve reliable STR profiles, as assessed in a multicentre data set
Published in Forensic science international. Genetics supplement series (01-12-2015)“…A set of 16 amplifications following a D-optimal experimental design was planned using the most commonly selected kit and sequencer utilized in a collaborative…”
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14
Capillary electrophoresis analysis of DNA primary structure: Toward a quality control test for the reliability of the STR-typing from forensic specimens
Published in Forensic science international. Genetics supplement series (01-12-2011)“…A capillary electrophoresis (CE) method was used to study the DNA primary structure of artificially degraded DNA samples and aged/forensic specimens. CE…”
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15
Molecular characterisation of a mummified body found in a glacier
Published in Forensic science international. Genetics supplement series (01-12-2011)“…A complete genetic profile of a mummified male body that had emerged from the melting ice of an Alpine Glacier was achieved. The body could be dated back to…”
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A mini-primer set covering the mtDNA hypervariable regions for the genetic typing of old skeletal remains
Published in Forensic science international. Genetics supplement series (01-12-2009)“…A mini-primer set to amplify the mtDNA control region was developed and tested on fourteen long compact bone samples (femur and humerus samples) recovered from…”
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17
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis
Published in Genetics in medicine (01-12-2007)“…Familial adenomatous polyposis is a phenotypically heterogeneous disease predisposing to colorectal cancer. It is dominantly transmitted, when associated with…”
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18
T lymphocytes of recipient origin may contribute to the recovery of specific immune response toward viruses and fungi in children undergoing cord blood transplantation
Published in Blood (01-06-2004)“…Patients undergoing allogeneic cord blood transplantation (CBT) benefit from a low risk of graft-versus-host disease (GVHD), but there are still concerns that…”
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Donor/recipient mixed chimerism does not predict graft failure in children with {beta}-thalassemia given an allogeneic cord blood transplant from an HLA-identical sibling
Published in Haematologica (Roma) (01-12-2008)“…1 Oncoematologia Pediatrica, Laboratorio di Immunologia dei Trapianti, Fondazione IRCCS Policlinico San Matteo, Pavia 2 Dipartimento di Scienze Pediatriche,…”
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20
Molecular characterisation of the nucleic acids recovered from aged forensic samples
Published in International journal of legal medicine (01-12-2002)“…The molecular composition of the genetic substrate recovered from seven aged forensic samples has been extensively investigated. A simple enzymatic test based…”
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