Alberto Plaja - Academia.edu (original) (raw)

Papers by Alberto Plaja

International Journal of Cancer, 1993

The presence and distribution of human papillomavirus (HPV) DNA or of increased expression of the... more The presence and distribution of human papillomavirus (HPV) DNA or of increased expression of the p53 protein were determined in 71 patients with esophageal squamous‐cell carcinoma (SCC) by in situ hybridization with biotinylated DNA probes for HPV‐16, ‐18,‐31 and ‐33, and immunohistochemical techniques using antibody to p53 protein. Of 71 patients from Kochi prefecture, 24 (Group I) were positive for HPV DNA, including 10 for HPV type‐16 and 14 for HPV type‐18; in contrast, none were positive for HPV‐31 or ‐33. Of the remaining 47 patients, 24 (Group II) showed positive nuclear staining in cancer cells with p53 antibody. The group of 23 patients with neither HPV nor p53 expression (Group III) had a significantly better survival rate than Group I or II. These results suggest that HPV‐16 and ‐18 may play a role in the pathogenesis of esophageal SCC, particularly with regard to its striking geographical distribution; that esophageal cancers do occur in the absence of HPV infection when over‐expression of p53 is present; and that the presence of HPV infection and over‐expression of p53 may each be a factor indicating a relatively poor prognosis.

PloS one, 2018

In families at risk from monogenic diseases affected offspring, it is fundamental the development... more In families at risk from monogenic diseases affected offspring, it is fundamental the development of a suitable Double Factor Preimplantation Genetic Testing (DF-PGT) method for both single-gene analysis and chromosome complement screening. Aneuploidy is not only a major issue in advanced-maternal-age patients and balanced translocation carriers, but also the aneuploidy rate is extremely high in patients undergoing in vitro fertilization (IVF), even in young donors. To adequate NGS technology to the DF-PGT strategy four different whole genome amplification systems (Sureplex, MALBAC, and two multiple displacement amplification systems-MDA) were tested using TruSight One panel on cell lines and blastocyst trophectoderm biopsies-TE. Embryo cytogenetic status was analyzed by Nexus software. Sureplex and MALBAC DNA products were considered not suitable for PGT diagnosis due to inconsistent and poor results on Trusight one (TSO) panel. Results obtained with both MDA based methods (GEH-MDA...

European journal of medical genetics, 2018

The transcription factor SOX18 has been shown to play a role in the development of hair, blood an... more The transcription factor SOX18 has been shown to play a role in the development of hair, blood and lymphatic vessels. Mutations in SOX18 result in hereditary lymphedema, with the unique clinical association of hypotrichosis and telangiectasia (HLTS). Some patients present with additional disease features which may be explained by the location of SOX18 mutation. We report a patient with hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) confirmed by detection of a novel mutation in the SOX18 gene. Few cases of HTLS have been reported in the literature. We reviewed all cases reported to date to delineate the clinical manifestations that allow us to prompt diagnosis of this syndrome for appropriate management and genetic counseling.

Deep Sea Research Part B. Oceanographic Literature Review

C. Chemical Oceanography OLR (1982) 29 rescence remains nearly constant for several months. The r... more C. Chemical Oceanography OLR (1982) 29 rescence remains nearly constant for several months. The relation between fluorescence of the filters and the chlorophyll plus phaeopigments concentration is linear up to 6.6 mg/m 3. Error of the determinations is 60%. ORSTOM, B.P.A 5 Noumea, New Caledonia.

American Journal of Medical Genetics, Jun 15, 2001

Annales De Genetique, Apr 1, 2004

Rearregements involving long arm of chromosome 12 are rare events. To our knowledge, we present t... more Rearregements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report.

Cancer Genetics and Cytogenetics

Cancer Genetics and Cytogenetics, Volume 131, Issue 2, Pages 144-145, December 2001, Authors:Albe... more Cancer Genetics and Cytogenetics, Volume 131, Issue 2, Pages 144-145, December 2001, Authors:Alberto Plaja; Cristina Perez; Rosa Miró. Journal Home, Register or Login: Password: Auto-Login [Reminder]. Search This Periodical ...

Cytogenetic and genome research, Jan 18, 2015

Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible ... more Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multisystem involvement and variable expressivity. We found 2 patients with a deletion and 1 patient with a duplication in this region sharing a common breakpoint located between the LIMK1 and EIF4H(WBSCR1) genes. One patient had a WBS phenotype, although testing with a commercially available FISH assay was negative for the deletion. A further test using array CGH showed an atypical WBS region deletion. The second patient showed global developmental delay, speech delay and poor motor skills with a deletion outside the WBS region. The third patient had manifestations compatible with an autism spectrum disorder showing a duplication in the WBS region. Our findings point to the existence of a previously unrecognized recurrent breakpoint responsible for rearrangements in the WBS region. Given that most commercial FISH assays include probes flanking this ...

European journal of human genetics : EJHG, Jan 8, 2015

Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the id... more Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype…

Annales de génétique

We have found a high correlation of non-random bending of human metaphase chromosome 12 with the ... more We have found a high correlation of non-random bending of human metaphase chromosome 12 with the intranuclear arrangement deduced by Nogami et al. (Chromosoma 108 (2000) 514), providing further evidence of the relation of non-random bending and the interphase organization of the nucleus.

Annales de génétique, 1998

We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorph... more We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorphic features and absence of the brachiocephalic truncus.

Annales de génétique, 1994

The authors report the case of a girl with psychomotor and growth retardation, ventricular septal... more The authors report the case of a girl with psychomotor and growth retardation, ventricular septal defect, patent ductus arteriosus, bulging forehead, prominent philtrum, low nasal bridge, inner epicanthal folds, strabismus, miosis, low set ears with prominence of antihelices, short neck, single transverse crease and camptodactyly of the fourth finger in both hands. G-banded chromosomal analysis revealed a 46, XX, del (6) (p23) chromosome constitution. A review of the phenotypes of the patients known with this chromosome deletion is presented.

Annales de Génétique, 2002

We report the prenatal detection of an inherited paracentric inversion 16(q11.2q13).