305,526 research outputs found
1. Crolla E., Neola B., Pisapia A., de Werra C., Sequi L., Giordano F., Riccardi F., and Molino C. Irreversible electroporation as an option for management of locally adavanced pancreatic adenocarcinoma: a single center retrospective case-control study. Journal of Clinical Medicine. 2022,11 https://doi.org/10.3390/xxxx
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Molecular investigations of structural and numerical chromosome abnormalities in man
No full textThis thesis concerns two areas of investigation. (1) The chromosomal origins and in some cases the molecular composition of 76 autosomal supernumerary marker chromosomes (SMC) were identified using fluorescence in situ hybridisation (FISH) and polymerase chain reaction (PCR) techniques. Forty seven were de novo, 9 maternally and 7 paternally transmitted and in 13 cases the parental origin is not known. Thirty four cases were non-mosaic and 42 mosaics, with 26 cases ascertained prenatally and 50 postnatally. Thirty two of the SMCs were shown to be derived from chromosome 15. Sixteen de novo SMC(15)s were maternal in origin, contained proximal 15q euchromatin and were invariably ascertained in patients with moderate to severe mental retardation. By contrast, the majority of SMC(15) without 15q euchromatin were found in normal individuals. Three out of 6 patients with SMC(22) were shown to contain proximal 22q euchromatin but no straightforward correlation between the extent of additional material in the SMC(22) and phenotypic effects were observed. Of the 38 SMCs derived from other autosomes, euchromatin was detected in 9 out of 18 tested with paints and/or PCR; abnormal phenotypes were most commonly observed in patients with small ring shaped SMCs containing euchromatic sequences. Uniparental disomy for chromosomes 6 and 15 respectively were detected amongst the 47 cases examined.(2) Twenty six patients, with either isolated aniridia, with one or more of the WAGR (Wilms' tumour, aniridia, genital anomalies and mental retardation) syndrome or other anomalies were analysed by FISH with selected 11p13 markers including cosmids, FO2121, PAX6 (aniridia), D11S324 and WT1 (Wilms' tumour predisposition). Overall 8/26 (�30%) had abnormalities resolvable with FISH. Three patients with isolated aniridia were abnormal; the first with an apparently balanced reciprocal 7;11 translocation and an 11p13 breakpoint which by FISH was shown to be �30kb distal to the aniridia (PAX6) gene.</p
A cytogenetic and fish study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples
No full textDistribution of the D15Z1 copy number polymorphism
No full textUsing fluorescent in situ hybridization (FISH) with the probe p15 (D15Z1), we investigated the distribution of the polymorphic 15p signal which has been reported to occur on acrocentric chromosomes in addition to chromosome 15. The short arm of chromosome 15 has a characteristic signal pattern when hybridized with the FISH probe D15Z1. However, the D15Z1 signal can occasionally be seen on the short arm of other acrocentric chromosomes. We studied the distribution of the D15Z1 probe in 1657 patients consisting both of individuals with a normal karyotype and those with a variety of chromosome abnormalities involving the acrocentric chromosomes. Our results show that one in six individuals, regardless of their patient ascertainment category or karyotypic status, had one or more additional D15Z1 signals, and that there were no significant differences in the distribution of extra signals among the patient groups
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
FISH studies in patients with aniridia reveals > 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions
No full textMosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
No full textTrisomy 6 is seen in early miscarriages in association with an intact, empty amniotic sac or as a pseudomosaic in amniotic fluid cultures. We report the finding of mosaic trisomy 6 in a 23-week-gestation pregnancy terminated because of intrauterine death. The post-mortem showed a well formed macerated male fetus with an atrioventricular septal defect and an exomphalos. By conventional cytogenetics, trisomy 6 was found in 12 out of 25 (48%) fibroblast colonies from fetal skin and 21 out of 32 (66%) colonies derived from amnion, while the remaining metaphases showed an apparently normal male karyotype. Molecular genetic studies on DNA from uncultured fetal skin and cord samples using polymorphic microsatellite repeat sequences showed no evidence of trisomy 6, but demonstrated that both chromosome 6 homologs were of maternal origin consistent with maternal uniparental disomy (UPD)
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