Dianna M Milewicz


Ontology type: schema:Person     


Person Info

NAME

Dianna M

SURNAME

Milewicz

Publications in SciGraph latest 50 shown

  • 2019-01 MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants in GENETICS IN MEDICINE
  • 2018-12 Genome-wide analysis yields new loci associating with aortic valve stenosis in NATURE COMMUNICATIONS
  • 2018-12 Epidemiology of Childhood Onset Essential Hypertension in JOURNAL OF HUMAN HYPERTENSION
  • 2018-12 Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-10 Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations in GENETICS IN MEDICINE
  • 2017-12 Asprosin is a centrally acting orexigenic hormone in NATURE MEDICINE
  • 2017-12 Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice in SCIENTIFIC REPORTS
  • 2017-10 Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications in BMC PHARMACOLOGY AND TOXICOLOGY
  • 2017-05-25 Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve in NATURE COMMUNICATIONS
  • 2017-02 Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome in NATURE MEDICINE
  • 2015-12 Arterial tortuosity and change with age in young patients with aortopathy in JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
  • 2015-12 The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2015-09 Ultra High-Resolution In vivo Computed Tomography Imaging of Mouse Cerebrovasculature Using a Long Circulating Blood Pool Contrast Agent in SCIENTIFIC REPORTS
  • 2014-08 Loeys–Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling in GENETICS IN MEDICINE
  • 2014-01 Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome in GENETICS IN MEDICINE
  • 2014-01 Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome in GENETICS IN MEDICINE
  • 2014-01 Vertebral artery tortuosity in Turner syndrome: is tortuosity a component of the aortopathy phenotype? in JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
  • 2012-08 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome in NATURE GENETICS
  • 2011-10 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 in NATURE GENETICS
  • 2010-04 Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy in GENETICS IN MEDICINE
  • 2009-11-20 The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition in NATURE PRECEDINGS
  • 2008-12 An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease in JOURNAL OF HUMAN GENETICS
  • 2008-02 Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections in NATURE GENETICS
  • 2007-12 A Marfan syndrome gene expression phenotype in cultured skin fibroblasts in BMC GENOMICS
  • 2007-12 Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections in NATURE GENETICS
  • 2007-03 Severe aortic and arterial aneurysms associated with a TGFBR2 mutation in NATURE REVIEWS CARDIOLOGY
  • 2007 Genetic Aspects of Congenital Heart Disease in CARDIOVASCULAR MEDICINE
  • 2007 Classification of Genetic Disorders in CARDIOVASCULAR MEDICINE
  • 2007 Inherited Disorders of Connective Tissue in CARDIOVASCULAR MEDICINE
  • 2006-11-17 Universal Primer Applications for Pyrosequencing<sup>®</sup> in PYROSEQUENCING PROTOCOLS
  • 2004 Familial Thoracic Aortic Aneurysms and Dissections in MARFAN SYNDROME: A PRIMER FOR CLINICIANS AND SCIENTISTS
  • 2003-12 Methodology for using a universal primer to label amplified DNA segments for molecular analysis in BIOTECHNOLOGY LETTERS
  • 2003-10 High throughput detection of small genomic insertions or deletions by Pyrosequencing in BIOTECHNOLOGY LETTERS
  • 2000-01 Familial aortic aneurysms in GENETICS IN MEDICINE
  • 1999 Inherited disorders of the aorta in DIAGNOSIS AND TREATMENT OF AORTIC DISEASES
  • 1996-02 A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific in JOURNAL OF MOLECULAR EVOLUTION
  • 1995-12 Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly in NATURE GENETICS
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