Petros Tsipouras - Academia.edu (original) (raw)

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Papers by Petros Tsipouras

Research paper thumbnail of Molecular nosology of heritable disorders of connective tissue

American Journal of Medical Genetics, 1992

Research paper thumbnail of A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

Archives of Pediatrics & Adolescent Medicine, 2002

Research paper thumbnail of Cytological screening method

Research paper thumbnail of Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene

The American Journal of Human Genetics, 2001

Research paper thumbnail of Cytological Screening Method

Research paper thumbnail of Cloning, chromosomal organization and expression analysis of Neurl 1 1 The mouse Neurl cDNA sequence has been submitted to GenBank with Acc. No.: NM_021360; Neurl genomic DNA sequences are available under GenBank Acc. Nos. AG271919–23. NEURL ( Drosophila neuralized-like) is a gene symbol approved...

Bba Gene Struct Express, 2002

The Drosophila neuralized (neur) gene belongs to the neurogenic group of genes involved in regula... more The Drosophila neuralized (neur) gene belongs to the neurogenic group of genes involved in regulating cell^cell interactions required for neural precursor development. neur mutant phenotypes include strong overcommitment to neural fates at the expense of epidermal fates. The human neuralized homolog (NEURL) has been recently determined and found to map to chromosome 10q25.1 within the region frequently deleted in malignant astrocytomas. Because of its potential importance in developmental processes, we analyzed the structure of the mouse homolog, Neurl, and its expression pattern in embryonic tissues. Neurl activity is detected from early developmental stages in several tissues and organs including neural tissues, limbs, the skeletal system, sense organs and internal organs undergoing epithelialm esenchymal interactions. Neurl encodes a polypeptide associated with the plasma membrane but also detected in the cytoplasm. Similarly to the Drosophila gene, mammalian neuralized may code for an important regulatory factor.

Research paper thumbnail of Methods for Prenatal Diagnosis of Aneuploidy

Research paper thumbnail of The Genetic Basis of Aortic Disease

Cardiol Clin, 1999

ABSTRACT The Marfan syndrome and related disorders are systemic disorders of connective tissue. P... more ABSTRACT The Marfan syndrome and related disorders are systemic disorders of connective tissue. Proximal aorta is usually dilated. The molecular basis of Marfan syndrome has been elucidated, thus allowing prenatal diagnosis. Life expectancy has markedly improved due to the widespread use of beta-adrenergic receptor inhibitors and improved surgical management of the aortic disease.

Research paper thumbnail of Automated detection of cancer and high grade hyperplasias

Research paper thumbnail of Device and method for dectecting and localizing cells by means of photosensitive waveguides

Research paper thumbnail of Method for detecting fluorescent signals in a biological sample

Research paper thumbnail of Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)

The American Journal of Human Genetics, May 1, 1990

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplas... more Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Manifestations are present at birth. We ascertained a 4-generation family exhibiting the clinical manifestations of the disorder. Previous evidence suggesting defects of type II collagen associated with the SEDC phenotype led us to genotype the family for various COL2A1 gene-associated RFLPs. A total of 17 affected and unaffected members of this family were studied. The family was informative for a recently discovered Hinfl RFLP. No recombinants between the marker and the phenotype were found in eight informative meioses. A maximum LOD score of 3.01 was obtained at a recombination fraction of .00. Our results indicate that the SEDC phenotype in this family is caused by mutations in or very close to the COL2A1 locus.

Research paper thumbnail of POD-09.11: Fully-automated FISH-based testing using robotic microscopy: application in bladder cancer identification and recurrence monitoring

Urology, 2007

patients T0 in the re-TURB, we observed a percentage of progression in just one patient, who pres... more patients T0 in the re-TURB, we observed a percentage of progression in just one patient, who presented a recurrency after 3 months, associated with CIS. The remaining 22 patients with T1G3 are still progression free. The multivariate analysis showed that the mean variable of early progression was the istopathological findings of the restaging TURB (pϭ0.01), followed by the results of the first cystoscopy (pϭ0,002) and the presence of CIS (pϭ0.02). Conclusion: Restaging TURB in patients affected by superficial disease of high grade identify subjects with high rate of early progression. These efforts permit to select the patients who need an immediate radical surgical treatment (early cistectomy) to have a better follow up and impact survival.

Research paper thumbnail of Automatic System for Detection and Identification of Isolated Cells from Blood or Tissue

Research paper thumbnail of Improved Pre-Implantation Genetic Diagnosis Test

Research paper thumbnail of Pre-Implantation Genetic Diagnosis Test

Research paper thumbnail of Non-Invasive Method for Diagnosing Fetal Cells and Cancer Cells

Research paper thumbnail of Automated Method for Detecting Cancers and High Grade Hyperplasias

Research paper thumbnail of Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping: Mapping of an acromesomelic dysplasia

Clin Genet, 2001

of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.

Research paper thumbnail of Haplotype analysis enables the diagnosis of Marfan syndrome

Connecticut Medicine, 2004

Marfan syndrome is an inherited disorder of connective tissue associated with aneurysmal rupture ... more Marfan syndrome is an inherited disorder of connective tissue associated with aneurysmal rupture of the ascending aorta. Timely and accurate diagnosis has reduced the mortality and morbidity associated with this disorder through expectant observation and implementation of appropriate prophylactic therapy. To this end, haplotype analysis using polymorphic genetic markers in close proximity to the Fibrillin-1 gene (FBN1) were employed to aid in the diagnosis of two individuals who did not meet the clinical diagnostic criteria.

Research paper thumbnail of Molecular nosology of heritable disorders of connective tissue

American Journal of Medical Genetics, 1992

Research paper thumbnail of A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

Archives of Pediatrics & Adolescent Medicine, 2002

Research paper thumbnail of Cytological screening method

Research paper thumbnail of Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene

The American Journal of Human Genetics, 2001

Research paper thumbnail of Cytological Screening Method

Research paper thumbnail of Cloning, chromosomal organization and expression analysis of Neurl 1 1 The mouse Neurl cDNA sequence has been submitted to GenBank with Acc. No.: NM_021360; Neurl genomic DNA sequences are available under GenBank Acc. Nos. AG271919–23. NEURL ( Drosophila neuralized-like) is a gene symbol approved...

Bba Gene Struct Express, 2002

The Drosophila neuralized (neur) gene belongs to the neurogenic group of genes involved in regula... more The Drosophila neuralized (neur) gene belongs to the neurogenic group of genes involved in regulating cell^cell interactions required for neural precursor development. neur mutant phenotypes include strong overcommitment to neural fates at the expense of epidermal fates. The human neuralized homolog (NEURL) has been recently determined and found to map to chromosome 10q25.1 within the region frequently deleted in malignant astrocytomas. Because of its potential importance in developmental processes, we analyzed the structure of the mouse homolog, Neurl, and its expression pattern in embryonic tissues. Neurl activity is detected from early developmental stages in several tissues and organs including neural tissues, limbs, the skeletal system, sense organs and internal organs undergoing epithelialm esenchymal interactions. Neurl encodes a polypeptide associated with the plasma membrane but also detected in the cytoplasm. Similarly to the Drosophila gene, mammalian neuralized may code for an important regulatory factor.

Research paper thumbnail of Methods for Prenatal Diagnosis of Aneuploidy

Research paper thumbnail of The Genetic Basis of Aortic Disease

Cardiol Clin, 1999

ABSTRACT The Marfan syndrome and related disorders are systemic disorders of connective tissue. P... more ABSTRACT The Marfan syndrome and related disorders are systemic disorders of connective tissue. Proximal aorta is usually dilated. The molecular basis of Marfan syndrome has been elucidated, thus allowing prenatal diagnosis. Life expectancy has markedly improved due to the widespread use of beta-adrenergic receptor inhibitors and improved surgical management of the aortic disease.

Research paper thumbnail of Automated detection of cancer and high grade hyperplasias

Research paper thumbnail of Device and method for dectecting and localizing cells by means of photosensitive waveguides

Research paper thumbnail of Method for detecting fluorescent signals in a biological sample

Research paper thumbnail of Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)

The American Journal of Human Genetics, May 1, 1990

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplas... more Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Manifestations are present at birth. We ascertained a 4-generation family exhibiting the clinical manifestations of the disorder. Previous evidence suggesting defects of type II collagen associated with the SEDC phenotype led us to genotype the family for various COL2A1 gene-associated RFLPs. A total of 17 affected and unaffected members of this family were studied. The family was informative for a recently discovered Hinfl RFLP. No recombinants between the marker and the phenotype were found in eight informative meioses. A maximum LOD score of 3.01 was obtained at a recombination fraction of .00. Our results indicate that the SEDC phenotype in this family is caused by mutations in or very close to the COL2A1 locus.

Research paper thumbnail of POD-09.11: Fully-automated FISH-based testing using robotic microscopy: application in bladder cancer identification and recurrence monitoring

Urology, 2007

patients T0 in the re-TURB, we observed a percentage of progression in just one patient, who pres... more patients T0 in the re-TURB, we observed a percentage of progression in just one patient, who presented a recurrency after 3 months, associated with CIS. The remaining 22 patients with T1G3 are still progression free. The multivariate analysis showed that the mean variable of early progression was the istopathological findings of the restaging TURB (pϭ0.01), followed by the results of the first cystoscopy (pϭ0,002) and the presence of CIS (pϭ0.02). Conclusion: Restaging TURB in patients affected by superficial disease of high grade identify subjects with high rate of early progression. These efforts permit to select the patients who need an immediate radical surgical treatment (early cistectomy) to have a better follow up and impact survival.

Research paper thumbnail of Automatic System for Detection and Identification of Isolated Cells from Blood or Tissue

Research paper thumbnail of Improved Pre-Implantation Genetic Diagnosis Test

Research paper thumbnail of Pre-Implantation Genetic Diagnosis Test

Research paper thumbnail of Non-Invasive Method for Diagnosing Fetal Cells and Cancer Cells

Research paper thumbnail of Automated Method for Detecting Cancers and High Grade Hyperplasias

Research paper thumbnail of Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping: Mapping of an acromesomelic dysplasia

Clin Genet, 2001

of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.

Research paper thumbnail of Haplotype analysis enables the diagnosis of Marfan syndrome

Connecticut Medicine, 2004

Marfan syndrome is an inherited disorder of connective tissue associated with aneurysmal rupture ... more Marfan syndrome is an inherited disorder of connective tissue associated with aneurysmal rupture of the ascending aorta. Timely and accurate diagnosis has reduced the mortality and morbidity associated with this disorder through expectant observation and implementation of appropriate prophylactic therapy. To this end, haplotype analysis using polymorphic genetic markers in close proximity to the Fibrillin-1 gene (FBN1) were employed to aid in the diagnosis of two individuals who did not meet the clinical diagnostic criteria.

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