Physician

Medical Genetics

Dr. Petros Tsipouras, MD

Petros Tsipouras is an expert in the field of Medical Genetics. He received awards:"Elected Member". Petros Tsipouras is also published. He has 93 publications published. The lastest publication: "Hammerhead ribozymes targeted to the FBN1 mRNA can discriminate a single base mismatch between ribozyme and target.'

Publications

Is there a gain in chromosome 3q in the pathway to anal cancer?
Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.
Gain of 3q26: a genetic marker in low-grade squamous intraepithelial lesions (LSIL) of the uterine cervix.
Detection of circulating tumour cells in peripheral blood with an automated scanning fluorescence microscope.
Detection of circulating fetal cells utilizing automated microscopy: potential for noninvasive prenatal diagnosis of chromosomal aneuploidies.
Fully automated FISH examination of amniotic fluid cells.
Automated microscopy of amniotic fluid cells: detection of FISH signals using the FastFISH imaging system.
The expanding panorama of split hand foot malformation.
Prenatal sonographic diagnosis of Grebe syndrome.
Endogenously expressed multimeric self-cleaving hammerhead ribozymes ablate mutant collagen in cellulo.
Automated detection of rare fetal cells in maternal blood: eliminating the false-positive XY signals in XX pregnancies.
Haplotype analysis enables the diagnosis of Marfan syndrome.
Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta.
Split hand foot malformation is associated with a reduced level of Dactylin gene expression.
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
Cloning, chromosomal organization and expression analysis of Neurl, the mouse homolog of Drosophila melanogaster neuralized gene.
Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta.
Distal limb malformations: underlying mechanisms and clinical associations.
Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
Orthopaedic manifestations of Ehlers-Danlos syndrome.
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.
The genetic basis of aortic disease. Marfan syndrome and beyond.
A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24.
A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.
Hammerhead ribozymes targeted to the FBN1 mRNA can discriminate a single base mismatch between ribozyme and target.
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
Chronic pain is a manifestation of the Ehlers-Danlos syndrome.
Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts.
Preimplantation genetic diagnosis in Marfan syndrome.
Preimplantation genetic testing for Marfan syndrome.
A split hand-split foot (SHFM3) gene is located at 10q24-->25.
A common FGFR3 gene mutation in hypochondroplasia.
Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival.
Possible genetic heterogeneity in hypochondroplasia.
Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2.
Life expectancy in the Marfan syndrome.
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
Psychosocial functioning in the Ehlers-Danlos syndrome.
The gene for achondroplasia maps to the telomeric region of chromosome 4p.
Marfan syndrome: genetic basis and clinical manifestations.
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15.
The CEPH consortium linkage map of human chromosome 15q.
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Ma...
Molecular nosology of heritable disorders of connective tissue.
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
Marfan syndrome: a mystery solved.
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.
Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
Linkage disequilibrium between two restriction sites in the COL2A1 gene.
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
Marfan syndrome: light at the end of the tunnel?
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
A workshop on Marfan syndrome, 10 June 1989, Farmington, CT, USA.
Linkage analysis in Marfan syndrome.
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.
Protein kinase C: a new linkage marker for growth hormone and for COL1A1.
Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse.
Internal carotid artery aneurysm: a vascular manifestation of type IV Ehlers-Danlos syndrome.
Lack of linkage disequilibrium between two common restriction sites associated with the COLIA2 gene.
Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.
Two RFLPs in the 5'' end of the human osteonectin (ON) gene.
An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COL5A2).
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.
A centromere-based linkage group on the long arm of human chromosome 17.
Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.
Pregnancy management and successful outcome of Ehlers-Danlos syndrome type IV.
Increased aortic root stiffness associated with osteogenesis imperfecta.
Genetic disorders of collagen.
Restriction fragment length polymorphisms.
Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.
Neurologic correlates of osteogenesis imperfecta.
Cardiovascular involvement in osteogenesis imperfecta.
Non-invasive assessment of aortic mechanical properties.
Human collagens: biochemical, molecular and genetic features in normal and diseased states.
Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7.
Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene.
DNA polymorphisms in collagen genes: potential use in the study of disease.
Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.
Oral findings in osteogenesis imperfecta.
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form o...
Genetic structure of the Greek gypsies.

Schools

University of Athens College of Medicine School of Health Science National amp Kapodistrian
Yale New Haven Hospital
Montreal Chldns Hospital McGill University
Umsnu Rutgers Med School