Physician
Pediatrics
Dr. Richard J. Wenstrup, MD
|
|
Give Review
Richard Wenstrup works in the field of Pediatrics. He went to medical school at University of Cincinnati College of Medicine. Richard Wenstrup is a published MD. He published 83 publications, including: 'Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III. A report of five cases.'
Publications
- Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
- Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype.
- Analytical validation of a melanoma diagnostic gene signature using formalin-fixed paraffin-embedded melanocytic lesions.
- Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
- Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.
- Hereditary Cancer-Associated Mutations in Women Diagnosed with Two Primary Cancers: An Opportunity to Identify Hereditary Cancer Syndromes after the First Cancer Diagn...
- Validation of a Molecular and Pathological Model for Five-Year Mortality Risk in Patients with Early Stage Lung Adenocarcinoma.
- BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
- Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
- Clinical significance of large rearrangements in BRCA1 and BRCA2.
- Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.
- Body Surface Area-based Dosing of 5-Fluoruracil Results in Extensive Interindividual Variability in 5-Fluorouracil Exposure in Colorectal Cancer Patients on FOLFOX Reg...
- Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI In developing tendon.
- The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history.
- Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma In Situ and referred for genetic testing.
- Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
- BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.
- A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
- A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
- Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.
- ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development.
- Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.
- Structural abnormalities of the cornea and lid resulting from collagen V mutations.
- A genetic approach to fracture epidemiology in childhood.
- Endogenously expressed multimeric self-cleaving hammerhead ribozymes ablate mutant collagen in cellulo.
- Type V collagen controls the initiation of collagen fibril assembly.
- Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.
- Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.
- Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.
- Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease.
- Enzyme therapy for Gaucher disease: the first 5 years.
- Alignment and proliferation of MC3T3-E1 osteoblasts in microgrooved silicone substrata subjected to cyclic stretching.
- A potential mechanism for age-related declines in patellar tendon biomechanics.
- Three-dimensional in vitro effects of compression and time in culture on aggregate modulus and on gene expression and protein content of collagen type II in murine cho...
- Tensile stimulation of murine stem cell-collagen sponge constructs increases collagen type I gene expression and linear stiffness.
- Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
- Generation and characterization of Col10a1-mcherry reporter mice.
- Vitamin D receptor Fok1 polymorphism and blood lead concentration in children.
- Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
- Immunological barriers (opportunities?) to the use of bioengineered tissue: taking note of the innate immune system.
- Bone complications in children with Gaucher disease.
- Skeletal aspects of Gaucher disease: a review.
- Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta.
- Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression.
- COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
- The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts.
- Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III. A report of five cases.
- Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
- Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
- Abnormal differentiation in MC3T3-E1 preosteoblasts expressing a dominant-negative type I collagen mutation.
- A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos synd...
- Gaucher disease: a prototype for molecular medicine.
- Discordant expression of osteoblast markers in MC3T3-E1 cells that synthesize a high turnover matrix.
- Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
- Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
- Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.
- COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and E...
- The Ehlers-Danlos syndromes and Marfan syndrome: inherited diseases of connective tissue with overlapping clinical features.
- Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3).
- Female pseudohermaphroditism with anorectal, müllerian duct, and urinary tract malformations: report of four cases.
- Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
- Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.
- Molecular basis of inherited disorders of collagen biosynthesis: implications for prenatal diagnosis.
- General strategies for isolating the genes encoding type I collagen and for characterizing mutations which produce osteogenesis imperfecta.
- Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.
- Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV ...
- Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
- Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy.
- Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
- The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.
- A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.
- An HLA class II region restriction fragment length polymorphism (RFLP) in patients with dermatitis herpetiformis: association with HLA-DP phenotype.
- Aluminum-induced mitogenesis in MC3T3-E1 osteoblasts: potential mechanism underlying neoosteogenesis.
- Construction of a full-length murine pro alpha 2(I) collagen cDNA by the polymerase chain reaction.
- DNA sequence analysis and restriction fragment length polymorphism (RFLP) typing of the HLA-DQw2 alleles associated with dermatitis herpetiformis.
- Sequence analysis of a full-length cDNA for the murine pro alpha 2(I) collagen chain: comparison of the derived primary structure with human pro alpha 2(I) collagen.
- Distinct proliferative and differentiated stages of murine MC3T3-E1 cells in culture: an in vitro model of osteoblast development.
- Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic feat...
- Mesenchymal stem cells used for rabbit tendon repair can form ectopic bone and express alkaline phosphatase activity in constructs.
- Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
- Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
- Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta.
Schools
University of Cincinnati Main Campus
Fairview University Med Center
University Wa Med Center
Doctors Specialties
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
Accepted Insurances
- Cofinity PPO
- Choice Care PPO
- Preferred PPO
Education
-
University of Washington -
University of Minnesota at Fairview -
University of Cincinnati College of Medicine
