Professor, Internal Medicine, University of Texas Medical School, Houston
Medical Genetics
Dr. Dianna M. Milewicz, MD
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Dianna M. Milewicz is an expert in the field of Medical Genetics. She went to medical school at University of Texas Southwestern Medical School. She received 1 awards: "Elected Member". Doctor Dianna M. Milewicz, MD is a published MD. She published 76 publications, including: 'LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.'
Publications
- Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene.
- LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
- Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations.
- Thoracic aortic dissection and rupture in conotruncal cardiac defects: A population-based study.
- Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity.
- MAT2A mutations predispose individuals to thoracic aortic aneurysms.
- MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections.
- RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease.
- Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there?
- Bicuspid Aortic Valve: Identifying Knowledge Gaps and Rising to the Challenge From the International Bicuspid Aortic Valve Consortium (BAVCon).
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.
- Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament associated proteins i...
- IL-6 regulates extracellular matrix remodeling associated with aortic dilation in a fibrillin-1 hypomorphic mgR/mgR mouse model of severe Marfan syndrome.
- Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms.
- Vascular ehlers-danlos syndrome: exploring the role of inflammation in arterial disease.
- Acute aortic dissections with pregnancy in women with ACTA2 mutations.
- Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
- Aortic Remodeling After Transverse Aortic Constriction in Mice Is Attenuated With AT1 Receptor Blockade.
- Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic ...
- Interleukin-6-signal transducer and activator of transcription-3 signaling mediates aortic dissections induced by angiotensin II via the T-helper lymphocyte 17-interle...
- Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections.
- Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.
- GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
- Smooth muscle hyperplasia due to loss of smooth muscle ?-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of plate...
- Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
- Diabetes and reduced risk for thoracic aortic aneurysms and dissections: a nationwide case-control study.
- Stopping a killer: improving the diagnosis, treatment, and prevention of acute ascending aortic dissections.
- The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): Results from phase I and scientific opportunities in p...
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
- Susceptibility to acute thoracic aortic dissections in patients dying outside the hospital: An autopsy study.
- Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
- The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.
- Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
- Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
- Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene.
- Mutations in myosin light chain kinase cause familial aortic dissections.
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
- Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease.
- Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.
- Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy.
- FBN1 mutations in patients with descending thoracic aortic dissections.
- Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
- Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
- Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: analysis of early outcome.
- Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic an...
- Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
- Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
- Universal primer applications for pyrosequencing.
- Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms.
- Pathogenesis of thoracic and abdominal aortic aneurysms.
- The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms.
- Aneurysm syndromes caused by mutations in the TGF-beta receptor.
- Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women.
- Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections.
- Genetic basis of thoracic aortic aneurysms and aortic dissections.
- Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF-beta pathway to recapitulate the "scleroderma phenotype".
- Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
- Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United Sta...
- Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families.
- Treatment of aortic disease in patients with Marfan syndrome.
- Classification analysis of the transcriptosome of nonlesional cultured dermal fibroblasts from systemic sclerosis patients with early disease.
- Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts.
- Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of t...
- Dolichonychia in women with Marfan syndrome.
- Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.
- Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma).
- Profibrillin-1 maturation by human dermal fibroblasts: proteolytic processing and molecular chaperones.
- Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence.
- Genetic susceptibility to enteroaggregative Escherichia coli diarrhea: polymorphism in the interleukin-8 promotor region.
- Incidence of familial intracranial aneurysms in 200 patients: comparison among Caucasian, African-American, and Hispanic populations.
- Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
- Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.
- Genetic basis of thoracic aortic aneurysms and dissections.
- Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma.
- Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Schools
University of Texas Southwestern Medical Center At Dallas
Parkland Memorial Hospital
Tex Sw Med School
University of Washington
Doctors Specialties
- Clinical Genetics
- Internal Medicine
- Medical Genetics
Accepted Insurances
Awards
- Elected Member
Education
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University of Texas Southwestern Medical School
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