A5012217906- Connective tissue disorders research
- Congenital limb and hand anomalies
- Aortic Disease and Treatment Approaches
- Prenatal Screening and Diagnostics
- Cardiac Valve Diseases and Treatments
- Cell Adhesion Molecules Research
- Bone and Dental Protein Studies
- Dermatological and Skeletal Disorders
- Genomic variations and chromosomal abnormalities
- Protease and Inhibitor Mechanisms
- Genomics and Chromatin Dynamics
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Developmental Biology and Gene Regulation
- Peptidase Inhibition and Analysis
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Dupuytren's Contracture and Treatments
- Aortic aneurysm repair treatments
- Wnt/β-catenin signaling in development and cancer
- Collagen: Extraction and Characterization
- Bone health and treatments
- Fetal and Pediatric Neurological Disorders
- Cancer-related Molecular Pathways
- Genetics and Neurodevelopmental Disorders
Yale University
2019
North Shore University Hospital
2009
UConn Health
1995-2006
University of Connecticut
1987-2006
Pediatrics and Genetics
2005
St. Luke's-Roosevelt Hospital Center
2004
Drexel University
2004
National and Kapodistrian University of Athens
1979-2004
Hutzel Women's Hospital
1994
University Hospital of Wales
1990
Categorization of the Ehlers-Danlos syndromes began in late 1960s and was formalized Berlin nosology. Over time, it became apparent that diagnostic criteria established published 1988 did not discriminate adequately between different types or other phenotypically related conditions. In addition, elucidation molecular basis several has added a new dimension to characterization this group disorders. We propose revision classification based primarily on cause each type. Major minor have been...
BACKGROUND. Adenoid cystic carcinoma (ACC) is a rare malignancy arising in salivary glands and other sites, characterized by high rates of relapse distant spread. Recurrent/metastatic (R/M) ACCs are generally incurable, due to lack active systemic therapies. To improve outcomes, deeper understanding genetic alterations vulnerabilities R/M tumors needed.
The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues. Marfan syndrome has been linked to the gene on chromosome 15, but congenital contractural arachnodactyly, which shares some physical features syndrome, 5.
Abstract Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming screen more than 500,000 infants. A key challenge determining which genes include in screening. Among 27 programs, the number of analyzed ranged from 134 4,299, with only 74 included by over 80% programs. To understand this variability, we assembled a dataset 25 characteristics 4,389 any...
Hypochondroplasia is a genetic disorder of disproportionate short stature. Linkage analysis provisionally placed hypochondroplasia in the chromosome 4p 16.3 region, location to which FGFR3 gene has been mapped. The genotyping three-generation family showed no recombinants between phenotype and three highly polymorphic markers flanking gene. Mutation was performed by RT-PCR direct sequencing. Primers covering most coding sequence were used for mRNA PCR amplification genomic DNA. A C-->A...
While aortic root dilatation and valvular dysfunction have been well-documented in osteogenesis imperfecta (OI), the nature extent of cardiovascular involvement OI not clearly delineated. A clinical echocardiographic survey involving 109 individuals with various nonlethal syndromes from 66 separate families was undertaken. Clinically discernible encountered only four (aortic regurgitation two, stenosis one, mitral valve prolapse one), none whom were related. Aortic recognized...
We have developed an automated, highly sensitive and specific method for identifying enumerating circulating tumour cells (CTCs) in the blood. Blood samples from 10 prostate, 25 colorectal 4 ovarian cancer patients were analysed. Eleven healthy donors seven men with elevated serum prostate-specific antigen (PSA) levels but no evidence of malignancy served as controls. Spiking experiments cell lines performed to estimate recovery yield. Isolation was either by density gradient centrifugation...
One cloned complementary DNA and one genomic subclone were used to detect restriction fragment length polymorphism associated with the pro alpha 2(I) gene for human type I procollagen. The fragments obtained from examination of 30-122 chromosomes confirmed previous indications that is found in a single copy haploid genome. highly polymorphic site was detected EcoRI 5'-half gene. at had an allelic frequency 0.38, it generated two 10.5 3.5 kilobase homozygous individuals. study affected...
We attempted to determine whether a family history of severe cardiovascular disease in patients with the Marfan syndrome is associated increased aortic dilation or decreased survival, both. The prognostic importance has been incompletely examined. hypothesized that such would correlate and be survival. One hundred eight affected 48 unaffected members from 33 multigenerational families underwent echocardiographic measurement root, arch mid-abdominal aorta. Date birth age at death ascertained...
Ehlers-Danlos syndrome is the most prevalent heritable disorder of connective tissue. Musculoskeletal problems include joint pain, swelling and instability, spinal deformity. This study was undertaken to assess functional orthopaedic patients with syndrome. Sixty genetically verified (range, 8-60 years; mean, 34 years) who attended a National Syndrome Foundation learning conference were evaluated by questionnaire, clinical examination, when indicated, radiographs. A database 250 items per...
Using a cDNA probe specific for the bovine Type II procollagen, series of overlapping genomic clones containing 45 kb contiguous human DNA have been isolated. Sequencing 54 bp exon, number 29, provided direct evidence that recombinant bear collagen sequences. Localization 5′ and 3′ ends gene indicated is 30 in size. This value significantly higher than homologous avian gene. The segregation polymorphic restriction site informative families conclusively demonstrated found single copy haploid...
Abstract Ehlers‐Danlos Syndrome (EDS) is a group of related genetic disorders connective tissue presenting with joint hypermobility, skin extensibility, and fragility. Although the pathophysiology EDS increasingly understood, psychosocial effects having have not been examined. We psychologically tested interviewed 41 adults 7 children EDS. Anxiety, depression, anger, interpersonal concerns were significantly elevated, varying from one‐quarter to one‐third patients; over 70% had history some...