Dianna Mcgookey Milewicz
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Dianna Mcgookey Milewicz's Degrees
- Doctorate Medicine University of Texas Health Science Center at Houston
- PhD Genetics University of Texas Health Science Center at Houston
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(Suggest an Edit or Addition)Dianna Mcgookey Milewicz's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The revised Ghent nosology for the Marfan syndrome (2010) (1659)
- 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, Ame (2010) (1270)
- Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor (2006) (1243)
- 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease: Executive Summary (2010) (1162)
- Aneurysm syndromes caused by mutations in the TGF-beta receptor. (2006) (792)
- 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, Ame (2010) (658)
- Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (2007) (459)
- Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. (2009) (436)
- Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (2007) (434)
- An adventitial IL-6/MCP1 amplification loop accelerates macrophage-mediated vascular inflammation leading to aortic dissection in mice. (2009) (398)
- Treatment of aortic disease in patients with Marfan syndrome. (2005) (385)
- Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. (2008) (382)
- Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (2010) (378)
- The molecular genetics of Marfan syndrome and related disorders (2006) (377)
- Mutations in Transforming Growth Factor-&bgr; Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections (2005) (368)
- 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Th (2010) (345)
- Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). (2014) (314)
- Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. (1995) (310)
- Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly (1995) (280)
- Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections. (2006) (277)
- Asprosin, a Fasting-Induced Glucogenic Protein Hormone (2016) (272)
- Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms (2011) (270)
- Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections. (2015) (263)
- Mutations in myosin light chain kinase cause familial aortic dissections. (2010) (261)
- Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. (1992) (249)
- MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. (2007) (242)
- Pathogenesis of Thoracic and Abdominal Aortic Aneurysms (2006) (233)
- TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome (2012) (227)
- Familial thoracic aortic dilatations and dissections: a case control study. (1997) (221)
- Familial Thoracic Aortic Aneurysms and Dissections: Genetic Heterogeneity With a Major Locus Mapping to 5q13-14 (2001) (220)
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction (2010) (213)
- Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. (1996) (202)
- Consideration of Sex Differences in Design and Reporting of Experimental Arterial Pathology Studies-Statement From ATVB Council. (2018) (192)
- Genetic susceptibility to enteroaggregative Escherichia coli diarrhea: polymorphism in the interleukin-8 promotor region. (2003) (190)
- Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder (2001) (189)
- Asprosin is a centrally-acting orexigenic hormone (2017) (188)
- A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. (1995) (186)
- Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. (2013) (186)
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 (2011) (175)
- Genetics of Thoracic and Abdominal Aortic Diseases. (2019) (172)
- Genetic disorders of the elastic fiber system. (2000) (169)
- A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). (2014) (168)
- Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. (1998) (161)
- LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. (2016) (154)
- Rescuing the physician-scientist workforce: the time for action is now. (2015) (152)
- Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections. (2017) (152)
- Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) to 3p24–25 (2003) (152)
- Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. (2018) (144)
- A novel mutation in human PAX9 causes molar oligodontia. (2002) (129)
- Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. (1996) (127)
- Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. (2008) (124)
- RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease (2014) (123)
- Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome (2017) (122)
- TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. (2010) (120)
- Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. (2001) (119)
- Spectrum of aortic operations in 300 patients with confirmed or suspected Marfan syndrome. (2006) (119)
- From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta (2018) (118)
- Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. (2008) (117)
- Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype (2002) (116)
- Genetics of cardiovascular disease. (2000) (106)
- Dysfunctional Mechanosensing in Aneurysms (2014) (105)
- Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations (2015) (104)
- Bicuspid aortic valve aortopathy in adults: Incidence, etiology, and clinical significance. (2015) (104)
- A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. (2012) (104)
- Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. (1998) (102)
- Genetic basis of thoracic aortic aneurysms and dissections (2002) (101)
- MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. (2014) (101)
- Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure. (2016) (98)
- Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy (2010) (98)
- Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis (1996) (96)
- Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα. (2013) (95)
- Interleukin-6–Signal Transducer and Activator of Transcription-3 Signaling Mediates Aortic Dissections Induced by Angiotensin II via the T-Helper Lymphocyte 17–Interleukin 17 Axis in C57BL/6 Mice (2013) (91)
- A Novel Mutation in Human PAX9 Causes Molar Oligodontia (2002) (91)
- Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. (2014) (90)
- MAT2A mutations predispose individuals to thoracic aortic aneurysms. (2015) (89)
- Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix. (1999) (89)
- International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). (2016) (88)
- Therapeutics Targeting Drivers of Thoracic Aortic Aneurysms and Acute Aortic Dissections: Insights from Predisposing Genes and Mouse Models. (2017) (88)
- Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections (2011) (87)
- The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition (2011) (87)
- Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. (2014) (85)
- Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. (2003) (85)
- The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms. (2006) (82)
- Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve (2017) (82)
- Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma. (2002) (79)
- Rare, Nonsynonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain, MYH11, R247C, Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells (2012) (78)
- Diabetes and Reduced Risk for Thoracic Aortic Aneurysms and Dissections: A Nationwide Case-Control Study (2012) (78)
- Systemic Sclerosis (Scleroderma): Specific Autoantigen Genes Are Selectively Overexpressed in Scleroderma Fibroblasts1 (2001) (77)
- IL‐6 Regulates Extracellular Matrix Remodeling Associated With Aortic Dilation in a Fibrillin‐1 Hypomorphic mgR/mgR Mouse Model of Severe Marfan Syndrome (2014) (77)
- Processing of the Fibrillin-1 Carboxyl-terminal Domain* (1999) (75)
- Therapies for Thoracic Aortic Aneurysms and Acute Aortic Dissections. (2019) (75)
- Genome-wide analysis yields new loci associating with aortic valve stenosis (2017) (74)
- FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. (2016) (74)
- Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture (2020) (74)
- Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. (1998) (74)
- The potential role of the elastic fiber system in adolescent idiopathic scoliosis. (1994) (73)
- Shprintzen-Goldberg syndrome: a clinical analysis. (1998) (73)
- Autoantibodies to Fibrillin-1 Activate Normal Human Fibroblasts in Culture through the TGF-β Pathway to Recapitulate the “Scleroderma Phenotype”1 (2005) (72)
- Ultra High-Resolution In vivo Computed Tomography Imaging of Mouse Cerebrovasculature Using a Long Circulating Blood Pool Contrast Agent (2015) (72)
- Acute Type A Intramural Hematoma: Analysis of Current Management Strategy (2008) (72)
- FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly (2004) (71)
- Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms (2017) (71)
- Classification analysis of the transcriptosome of nonlesional cultured dermal fibroblasts from systemic sclerosis patients with early disease. (2005) (70)
- SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections (2015) (70)
- Severe aortic and arterial aneurysms associated with a TGFBR2 mutation (2007) (69)
- Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. (2016) (68)
- Aortic Remodeling After Transverse Aortic Constriction in Mice Is Attenuated With AT1 Receptor Blockade (2013) (68)
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features (2014) (67)
- NLRP3 (Nucleotide Oligomerization Domain–Like Receptor Family, Pyrin Domain Containing 3)–Caspase-1 Inflammasome Degrades Contractile Proteins: Implications for Aortic Biomechanical Dysfunction and Aneurysm and Dissection Formation (2017) (66)
- Genetic basis of thoracic aortic aneurysms and aortic dissections (2005) (66)
- Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: Analysis of early outcome. (2009) (63)
- Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. (1994) (62)
- Heritable Thoracic Aortic Disease Overview (2016) (59)
- Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. (1997) (59)
- Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. (2011) (59)
- Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. (2010) (59)
- Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) (2016) (58)
- Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma). (2001) (57)
- Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. (2016) (55)
- Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice (2017) (55)
- Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension (2016) (54)
- Thoracic Aortic Aneurysms and Aortic Dissections (2012) (54)
- Differentiation defect in neural crest-derived smooth muscle cells in patients with aortopathy associated with bicuspid aortic valves (2016) (54)
- 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. (2022) (53)
- Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations (2013) (52)
- Deficiency of MMP17/MT4-MMP proteolytic activity predisposes to aortic aneurysm in mice. (2015) (49)
- Familial Aggregation of Both Aortic and Cerebral Aneurysms: Evidence for a Common Genetic Basis in a Subset of Families (2005) (49)
- Familial thoracic aortic aneurysms and dissections. (1998) (48)
- Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. (1993) (48)
- LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. (2018) (46)
- Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (2017) (46)
- Loss of Smooth Muscle &agr;-Actin Leads to NF-&kgr;B–Dependent Increased Sensitivity to Angiotensin II in Smooth Muscle Cells and Aortic Enlargement (2017) (46)
- Profibrillin‐1 maturation by human dermal fibroblasts: Proteolytic processing and molecular chaperones (2003) (46)
- Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. (2010) (45)
- Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry (2017) (45)
- Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms (2011) (45)
- The FBN2 gene: new mutations, locus‐specific database (Universal Mutation Database FBN2), and genotype‐phenotype correlations (2009) (43)
- Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. (2012) (42)
- Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity. (2015) (42)
- Genetic Basis of Thoracic Aortic Aneurysms and Dissections (2006) (41)
- FBN1 mutations in patients with descending thoracic aortic dissections (2010) (40)
- Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. (2018) (40)
- Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection. (2019) (40)
- International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. (2021) (40)
- Targeting the NLRP3 Inflammasome With Inhibitor MCC950 Prevents Aortic Aneurysms and Dissections in Mice (2020) (40)
- The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. (2011) (39)
- Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome (2013) (39)
- International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE (2016) (38)
- Update on Clinical Trials of Losartan With and Without β-Blockers to Block Aneurysm Growth in Patients With Marfan Syndrome: A Review. (2019) (38)
- Familial Thoracic Aortic Aneurysms and Dissections: Identification of a Novel Locus for Stable Aneurysms With a Low Risk for Progression to Aortic Dissection (2011) (37)
- GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection (2013) (37)
- Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families. (2004) (37)
- Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms (2016) (37)
- Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there? (2015) (36)
- Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. (1998) (36)
- Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. (2017) (36)
- THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage (2016) (36)
- Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome (2012) (34)
- The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease (2015) (34)
- Methodology for using a universal primer to label amplified DNA segments for molecular analysis (2003) (34)
- Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor β1 in cultured normal human fibroblasts (2005) (34)
- Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-β. (2013) (34)
- Acute aortic dissections with pregnancy in women with ACTA2 mutations (2014) (34)
- Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations (2018) (34)
- Sterols in blood of normal and Smith-Lemli-Opitz subjects. (2001) (34)
- MicroRNAs, fibrotic remodeling, and aortic aneurysms. (2012) (34)
- Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene (1997) (33)
- MYH 11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II (2007) (33)
- SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium (2019) (33)
- Overexpression of Smooth Muscle Myosin Heavy Chain Leads to Activation of the Unfolded Protein Response and Autophagic Turnover of Thick Filament-associated Proteins in Vascular Smooth Muscle Cells* (2014) (33)
- Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (1995) (33)
- Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome (2013) (31)
- Genetic testing in aortic aneurysm disease: PRO. (2010) (31)
- Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. (2014) (31)
- Cholesterol-Induced Phenotypic Modulation of Smooth Muscle Cells to Macrophage/Fibroblast–like Cells Is Driven by an Unfolded Protein Response (2020) (30)
- Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes (2018) (29)
- Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin. (2004) (29)
- The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy (2019) (29)
- Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas. (2001) (29)
- Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene. (2016) (28)
- Thoracic aortic dissection and rupture in conotruncal cardiac defects: A population-based study. (2015) (28)
- Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic dissection (2018) (27)
- A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. (2019) (27)
- Incidence of Familial Intracranial Aneurysms in 200 Patients: Comparison among Caucasian, African-American, and Hispanic Populations (2003) (27)
- Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: analysis of early outcome. (2009) (27)
- Clinicopathologic findings in congenital aneurysms of the great vessels. (1996) (27)
- Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. (2009) (26)
- Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections (2016) (25)
- Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry (2016) (25)
- Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene. (2010) (24)
- International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. (2021) (23)
- Marfan syndrome (2021) (23)
- A Marfan syndrome gene expression phenotype in cultured skin fibroblasts (2007) (23)
- Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome (2019) (22)
- Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. (2009) (22)
- Abnormal fibrillin metabolism in bovine Marfan syndrome. (1993) (22)
- Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease. (2010) (22)
- Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants". (2018) (22)
- Deletion of NF-&kgr;B/RelA in Angiotensin II-Sensitive Mesenchymal Cells Blocks Aortic Vascular Inflammation and Abdominal Aortic Aneurysm Formation (2017) (22)
- DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease. (2021) (21)
- Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States. (2005) (21)
- Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection). (2017) (21)
- Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms (2016) (20)
- Aortic pathology from protein kinase G activation is prevented by an antioxidant vitamin B12 analog (2019) (20)
- Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders. (1994) (20)
- In Vitro Lineage-Specific Differentiation of Vascular Smooth Muscle Cells in Response to SMAD3 Deficiency (2020) (19)
- MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants (2018) (19)
- A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. (2019) (19)
- Aging, Smooth Muscle Vitality, and Aortic Integrity (2017) (19)
- An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease (2008) (18)
- Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms. (2014) (17)
- Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. (1999) (17)
- 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. (2022) (17)
- Loeys–Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling (2014) (17)
- Susceptibility to acute thoracic aortic dissections in patients dying outside the hospital: an autopsy study. (2011) (17)
- FBN1 exon 2 splicing error in a patient with Marfan syndrome. (2001) (17)
- Familial thoracic aortic aneurysms and dissections: Three families with early‐onset ascending and descending aortic dissections in women (2006) (17)
- Inherited Disorders of Connective Tissue (2007) (16)
- SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections (2019) (16)
- Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. (2010) (15)
- A unique form of hypodontia seen in Vietnamese patients: cinical and molecular analysis (2003) (15)
- Stopping a killer: improving the diagnosis, treatment, and prevention of acute ascending aortic dissections. (2011) (15)
- Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm (2020) (15)
- Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). (2004) (14)
- Familial aggregation of first degree relatives of children with essential hypertension (2018) (14)
- Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts. (2005) (13)
- Open Thoracoabdominal Aortic Repair in Patients with Heritable Aortic Disease in the GenTAC Registry. (2020) (13)
- Epac1 (Exchange Protein Directly Activated by cAMP 1) Upregulates LOX-1 (Oxidized Low-Density Lipoprotein Receptor 1) to Promote Foam Cell Formation and Atherosclerosis Development (2020) (13)
- Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype (2018) (11)
- Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy (2021) (11)
- International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes. (2021) (11)
- Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry (2017) (11)
- Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants (2020) (11)
- Reversal of Aortic Enlargement Induced by Increased Biomechanical Forces Requires AT1R Inhibition in Conjunction With AT2R Activation. (2019) (11)
- Phosphatidic acid generated by PLD2 promotes the plasma membrane recruitment of IQGAP1 and neointima formation (2019) (10)
- The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln). (2019) (10)
- Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications (2017) (10)
- Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease (2020) (10)
- High throughput detection of small genomic insertions or deletions by Pyrosequencing (2003) (10)
- THSD 1 ( Thrombospondin Type 1 Domain Containing Protein 1 ) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage (2017) (9)
- Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts (2017) (9)
- Epidemiology of Childhood Onset Essential Hypertension (2018) (8)
- Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. (2021) (8)
- Vascular Smooth Muscle Cell Isolation and Culture from Mouse Aorta (2016) (8)
- MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants (2018) (8)
- Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome (2016) (8)
- Type B aortic dissection in young individuals with confirmed and presumed Heritable Thoracic Aortic Disease. (2020) (7)
- Genetic approaches to identify pathological limitations in aortic smooth muscle contraction (2018) (7)
- The FBN 2 Gene : New Mutations , Locus-Specific Database ( Universal Mutation Database FBN 2 ) , and Genotype-Phenotype Correlations (2008) (7)
- Marfan syndrome. (2021) (7)
- Actin R256 Mono-methylation Is a Conserved Post-translational Modification Involved in Transcription (2020) (7)
- A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific (1996) (7)
- Erratum: MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II (Human Molecular Genetics (2007) vol. 16 (20) (2453-2462) 10.1093/hmg/ddm201) (2008) (6)
- Universal primer applications for pyrosequencing. (2007) (6)
- A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections (2017) (6)
- The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition (2009) (6)
- Nonbacterial thrombotic endocarditis in three members of a family. (1997) (6)
- Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections (2010) (6)
- Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions. (2022) (6)
- Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease. (2022) (6)
- Dolichonychia in a Patient with the Marfan Syndrome (1993) (6)
- Childhood‐Onset Essential Hypertension and the Family Structure (2016) (6)
- Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (2020) (5)
- The Secrets of the Frogs Heart (2022) (5)
- Matrix Metalloproteinase Levels Are Elevated in Patients with Marfan Syndrome and Chronic Descending Thoracic Aortic Dissection (2010) (5)
- International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes. (2021) (5)
- Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections? (2019) (5)
- Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional, and research purposes. (2021) (5)
- Vascular Ehlers-Danlos syndrome: exploring the role of inflammation in arterial disease. (2014) (5)
- Abstract 490: Vertebral Artery Tortuosity Index is a Novel Biomarker of Surgery and Aortic Dissection or Rupture in Children and Young Adults: Findings From the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (2014) (4)
- Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity (2022) (4)
- Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability (2006) (4)
- Image-based patient-specific flow simulations are consistent with stroke in pediatric cerebrovascular disease (2021) (4)
- Vertebral artery tortuosity in Turner syndrome: is tortuosity a component of the aortopathy phenotype? (2014) (4)
- X Marks the Spot: The Profound Impact of Sex on Aortic Disease. (2018) (4)
- The role of fibrillin 1 and fibrillin 2 in severe scoliosis (1999) (4)
- Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2). (1993) (4)
- Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (2008) (4)
- Ultrasonic characterization of the aortic architecture in Marfan patients. (1995) (4)
- Familial aortic aneurysms (2000) (3)
- Genes Predisposing to Thoracic Aortic Aneurysms and Dissections: Associated Phenotypes, Gene-Specific Management, and Genetic Testing (2013) (3)
- Midterm outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study. (2021) (3)
- Turner syndrome‐specific and general population Z‐scores are equivalent for most adults with Turner syndrome (2017) (3)
- Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease (2020) (3)
- Grange syndrome due to homozygous YY1AP1 missense rare variants (2019) (3)
- Proteomic analysis of descending thoracic aorta identifies unique and universal signatures of aneurysm and dissection (2022) (3)
- Preventing Cholesterol-Induced Perk (Protein Kinase RNA-Like Endoplasmic Reticulum Kinase) Signaling in Smooth Muscle Cells Blocks Atherosclerotic Plaque Formation (2022) (3)
- Summary: international consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. (2021) (3)
- Aortic dilatation with bicuspid aortic valve. (2014) (3)
- Risk of sudden cardiac death in EXOSC5‐related disease (2021) (3)
- Erratum: Mutations in myosin light chain kinase cause familial aortic dissections (American Journal of Human Genetics (2010) 87 (701-707)) (2011) (3)
- Reversal of Aortic Enlargement Because of Increased Biomechanical Forces Requires AT1R (Angiotensin II Type 1 Receptor) Inhibition in Conjunction With AT2R (Angiotensin II Type 2 Receptor) Activation (2018) (3)
- Corrigendum to “The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition” [Behav. Brain Res. 223 (2011) 48–52] (2013) (2)
- Erratum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome (Genet Med advance online publication, (June 6, 2013)); DOI: 10.1038/gim.2013.77 (2014) (2)
- Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome (2021) (2)
- Arterial tortuosity and change with age in young patients with aortopathy (2015) (2)
- Foundation/American Heart Association Task Force on Practice Guidelines, Summary. A Report of the American College of Cardiology Diagnosis and Management of Patients With Thoracic Aortic Disease: Executive 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the (2010) (2)
- Evaluating perinatal and neonatal outcomes among children with vascular Ehlers-Danlos syndrome. (2022) (2)
- Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations (2018) (2)
- Genetic Aspects of Congenital Heart Disease (2007) (2)
- Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome (2014) (2)
- Molecular Genetics of Aortic Aneurysms and Aortic Dissections (2015) (2)
- Arteries, Smooth Muscle Cells and Genetic Causes of Thoracic Aortic Aneurysms (2012) (2)
- Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome (2022) (2)
- Coagulation factor VA 2440 G causes east Texas bleeding disorder via TFPI alpha (2013) (2)
- Increased frequency of the deletion allele of the ACE gene in African-Americans compared to Caucasians (1996) (2)
- Dolichonychia in Women with Marfan Syndrome (2004) (2)
- In-hospital Outcomes and Long-term Survival of Women of Childbearing Age with Aortic Dissection: Results from a Single-Center Database. (2021) (2)
- The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. (2000) (1)
- Screening of the PRKG1 gene in a British cohort of Thoracic Aortic Aneurysm and Dissection (TAAD) patients (2014) (1)
- Atrial Standstill in the Pediatric Population: A Multi-Institution Collaboration. (2022) (1)
- Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome. (2003) (1)
- Genetic Variants in Smooth Muscle Contraction and Adhesion Genes Cause Thoracic Aortic Aneurysms and Dissections and Other Vascular Diseases (2012) (1)
- Using Genetics for Personalized Management of Heritable Thoracic Aortic Disease: How Do We Get There? (2015) (1)
- TGFBR1 Rare Variant Associated With Thoracic Aortic Aneurysm, Double Chamber Left Ventricle, Coronary Anomaly, and Inducible Ventricular Tachycardia. (2020) (1)
- Erratum: Familial thoracic aortic aneurysms and dissections: Three families with early-onset ascending and descending aortic dissections in women (American Journal of Medical Genetics DOI: 10.1002/ajmg.a.31236) (2006) (1)
- Classification of Genetic Disorders (2007) (1)
- Patient-Specific Modeling Could Predict Occurrence of Pediatric Stroke (2022) (1)
- Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care (2022) (1)
- Resistance of Acta2R149C/+ mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex (2021) (1)
- International Bicuspid Aortic Valve Consortium (BAVCon) Bicuspid Aortic Valve: Identifying Knowledge Gaps and Rising to the Challenge From the (2014) (1)
- in highly trained able-bodied and disabled athletes Size and blood flow of central and peripheral arteries (2015) (1)
- The annual ASHG dinner. (2022) (1)
- Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies. (2022) (1)
- Summary: International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes. (2021) (1)
- Heritable Thoracic Aortic Disease: Single Gene Disorders Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections (2020) (1)
- Abstract 13178: Bicuspid Aortic Valve and Marfan Syndrome: Two Strikes? (2013) (1)
- Sequencing of TGF- Pathway Genes in Familial Cases of Intracranial Aneurysm (2009) (1)
- Long-term implications of emergency versus elective proximal aortic surgery in Marfan syndrome patients in the GenTAC Registry (2012) (1)
- Genome-wide analysis yields new loci associating with aortic valve stenosis (2018) (1)
- Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility (2022) (1)
- Machine Learning Identifies Plasma Proteomic Signatures of Descending Thoracic Aortic Disease (2023) (0)
- Table 2. [TGFBR2 Pathogenic Allelic Variants Discussed in This GeneReview]. (2012) (0)
- SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections (2019) (0)
- P255: RNA-sequencing for diagnosis and novel gene discovery in heritable thoracic aortic aneurysms and aortic dissections (HTAD) (2023) (0)
- Abstract 2681: Mutations in Smooth Muscle-Specific Contractile Proteins Cause Familial Thoracic Aortic Aneurysms and Dissections and Lead to Increased IGF-1 Expression (2007) (0)
- CHARACTERIZATION OF EXTRA-AORTIC ARTERIAL ANEURYSMS IN TGFBR1- AND TGFBR2-RELATED LOEYS-DIETZ SYNDROME (2023) (0)
- Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications (2017) (0)
- Abstract 67: A Rare Variant in Myh11, R247C, Affects Smooth Muscle Cell Phenotype and Acts as a Modifier for Aortic Disease (2012) (0)
- Abstract 678: Thoracic Aortic Dissection in Hypertensive Myh11r247c Mice Is Regulated by Gsk3β Signaling Pathway. (2015) (0)
- Abstract P118: Tissue Transglutaminase Contributes to Pro-Inflammatory Cytokine LIGHT-Induced Ang II Sensitization (2018) (0)
- Abstract 508: Prolonged Thrombus Resolution Leading to Abnormal Collagen Fibrillogenesis and Angiogenesis in Injured Arteries of Type III Collagen-Deficient Mice: a Paradoxical Mechanism for ‘Tissue Fragility’ in Vascular Ehlers-Danlos Syndrome and Spontaneous Cervical Artery Dissection (2013) (0)
- VERTEBRAL ARTERY TORTUOSITY IS A BIOMARKER FOR ARTERIAL EVENTS IN CHILDREN AND YOUNG ADULTS WITH VASCULAR EHLERS-DANLOS SYNDROME (2020) (0)
- Abstract 15182: Factors Associated With Aortic Dissection in Patients With TGFBR1 Or TGFBR2 Mutations: Results From the Montalcino Aortic Consortium (2015) (0)
- 4573 Characterization of vascular disease in an Acta2 mutant mouse model (2020) (0)
- Immune perturbation in patients with TGFbeta pathway defects (LYM7P.729) (2014) (0)
- An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family (2023) (0)
- Reply (2019) (0)
- Abstract 34: Myh11 R247C is a Modifier Allele for Aortic Disease (2013) (0)
- IMPACT OF IMAGING METHODOLOGY ON MEASUREMENTS OF AORTIC SIZE IN PATIENTS WITH THORACIC AORTIC ANEURYSMS - RESULTS FROM THE GENTAC IMAGING DATABASE (2010) (0)
- Proteomic Analysis of Descending Thoracic Aortic Aneurysms and Dissections to Identify Biomarkers for Surgical Management (2020) (0)
- Atherosclerosis in Sporadic Ascending Aortic Aneurysms (2012) (0)
- Abstract P174: Nuclear Smooth Muscle α-actin Is Critical For Smooth Muscle Cell Differentiation And To Prevent Cerebrovascular Disease (2021) (0)
- Sequencing of TGF- (cid:1) Pathway Genes in Familial Cases of Intracranial Aneurysm (2009) (0)
- Abnormal secretion or extracellular matrix incorporation of fibrillin by dermal fibroblasts from patients with thoracic aortic aneurysms (1994) (0)
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF- (cid:2) expression and connective tissue features (2014) (0)
- Abstract 14983: Arterial Tortuosity and Cardiovascular Outcomes in Marfan Syndrome and Loeys-Dietz Syndrome (2016) (0)
- Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm (2020) (0)
- RS20. Outcomes of Women in Childbearing Age With Aortic Dissection: Results From a Single-Center Database (2019) (0)
- List of Contributors (2020) (0)
- TGFB3-RELATED HERITABLE THORACIC AORTIC DISEASE: RESULTS FROM THE MONTALCINO AORTIC CONSORTIUM (2023) (0)
- Table 8. [Selected SMAD3 PathogenicVariants Discussed in This GeneReview]. (2012) (0)
- Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly (2007) (0)
- The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease (2015) (0)
- Classifi cation of Genetic Disorders (2006) (0)
- FBN1 gene mutation defines the profibrillin to fibrillin processing site and segregates with tall stature in a family (1994) (0)
- Inherited disorders of the aorta (1999) (0)
- Table 1. [Summary of Molecular Genetic Testing...]. (2012) (0)
- Clinical and genetic correlates of mitral valve pathology in patients with heritable thoracic aortic disease: results from the montalcino aortic consortium (2022) (0)
- Nuclear Smooth Muscle α-actin in Vascular Smooth Muscle Cell Differentiation (2023) (0)
- Abstract 16768: Common Autosomal Variants Modify the Penetrance of Left-sided Cardiac Lesions in Turner Syndrome (2016) (0)
- Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (2020) (0)
- Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association (2023) (0)
- Iris Flocculi Are an Ocular Marker of Smooth Muscle -Actin (Acta2) Mutation in Familial Thoracic Aortic Aneurysms Leading to Acute Aortic Dissections (TAAD) (2008) (0)
- Bicuspid Aortic Valve : Identifying Knowledge Gaps and Rising to the Challenge From the Print (2014) (0)
- Supplementary material from "Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms" (2017) (0)
- Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice (2017) (0)
- PC006. Fate of the Descending Thoracic Aorta After DeBakey Type I Aortic Dissection in Patients With Genetically Triggered Thoracic Aortic Disease (2016) (0)
- Abstract 16575: Arterial Tortuosity is Present in Multiple Genetic Conditions Associated With Aortopathy, a Study From the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) (2015) (0)
- Abstract 3828: Cerebrovascular Disease And Risk Of Stroke In Patients With ACTA2 R179H And R179L Mutations (2012) (0)
- Abstract 11615: Influence of Age and Gender on Marfan Phenotype: The NHLBI GenTAC Registry (2016) (0)
- Analysis of FBN1 allele expression by dermal fibroblasts from Marfan syndrome patients (1994) (0)
- Abstracts of the Fifth Annual Academic Surgical Congress of the Association for Academic Surgery and Society of University Surgeons. San Antonio, Texas, USA. February 3-5, 2010. (2010) (0)
- Abstract 13562: COQ8B : A Candidate Genetic Modifier of Thoracic Aortic Aneurysm Severity (2020) (0)
- Abstract # 17051: Genome-wide Copy Number Analysis Identifies New Candidate Genes for Thoracic Aortic Aneurysms and Dissections (2010) (0)
- The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective. (2020) (0)
- LONGITUDINAL AORTIC ROOT GROWTH IN CHILDREN WITH LOEYS-DIETZ SYNDROMES 1,2, AND 4 (2019) (0)
- Abstract 9841: Image-based Patient-specific Analysis Could Accurately Predict Stroke Events in Pediatric Cerebrovascular Disease (2019) (0)
- Publisher Correction: Marfan syndrome (2022) (0)
- ARTERIAL TORTUOSITY AND CARDIOVASCULAR OUTCOMES IN WILLIAMS SYNDROME AND NON-WILLIAMS SUPRAVALVAR AORTIC STENOSIS (2018) (0)
- INCIDENCE AND STRUCTURAL PREDICTORS OF AORTIC DISSECTION AMONG PATIENTS WITH GENETICALLY MEDIATED AORTIC ANEURYSMS: MULTICENTER FOLLOW-UP RESULTS FROM THE GENTAC (NATIONAL REGISTRY OF GENETICALLY TRIGGERED THORACIC AORTIC ANEURYSMS AND CARDIOVASCULAR CONDITIONS) REGISTRY (2014) (0)
- Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (2021) (0)
- ''Scleroderma Phenotype'' Pathway to Recapitulate the b TGF-Human Fibroblasts in Culture through the Autoantibodies to Fibrillin-1 Activate Normal (2005) (0)
- Abstract 19633: Comparison of Angiotensin II Receptor Blocker versus Beta-blocker Therapy in Genetically Classified Children With Marfan Syndrome (2015) (0)
- Aneurysms for Internists (2016) (0)
- Abstract 4275: TGFBR2 Mutations Reduce Expression of Contractile Proteins in Aortic Smooth Muscle Cells and Predispose Individuals to Thoracic Aortic Aneurysms and Dissections (2008) (0)
- Elastic fiber pathology within spinal ligaments of patients with adolescent idiopathic scoliosis (1994) (0)
- Abstract 4523: Sequencing of the Known Genes for Thoracic Aortic Disease in the GENTAC (Genetically-triggered Thoracic Aortic Aneurysms and Related Conditions) Cohort (2009) (0)
- Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease. (2022) (0)
- Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment (2022) (0)
- Abstract 117: A Population Based Study in a Large Ethnically Diverse Metropolitan City Reveals Racial and Ethnic Disparities in Pediatric Cardiac Arrest (2018) (0)
- Abstract 463: Heterozygous Missense Mutations in PLEKHO2 Predispose to Thoracic Aortic Aneurysms and Dissections (2019) (0)
- Abstract 17084: Nuclear Smooth Muscle α-actin Participates in Chromatin Remodeling at Smooth Muscle Contractile Gene Promoters (2020) (0)
- QS239. Adventitial Fibroblasts in Thoracic Aortic Aneurysm and Dissection (TAAD) (2008) (0)
- Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease. (2021) (0)
- Abstract 14610: Thoracic Aortic Aneurysm-causing Mutation, R258C, in Smooth Muscle Alpha-actin Inhibits Functional Effects of Wild-type Alpha-actin in Patient-derived Fibroblasts (2015) (0)
- University of Groningen Genome-wide analysis yields new loci associating with aortic valve stenosis (2018) (0)
- Abstract 53: Missense Pathogenic Variants in ANO1 Predispose to Moyamoya Disease (2020) (0)
- Abstract 458: Loss of Smooth Muscle α-actin in Mice Results in Thoracic Aortic Aneurysms via Increased Reactive Oxygen Species, Increased Nox4,and Increased Angiotensin II type 1 Receptor-Mediated Signaling (2015) (0)
- Reply: More Genes for Thoracic Aortic Aneurysms and Dissections. (2019) (0)
- Abstract 140: Heterozygous Missense Mutations in PLEKHO2 Predispose to Thoracic Aortic Aneurysms and Dissections (2019) (0)
- Abstract 17616: Recurrent Copy Number Variants are Enriched in Bicuspid Aortic Valve and Affect Cardiac Developmental Genes (2015) (0)
- Overexpressed in Scleroderma Fibroblasts Autoantigen Genes Are Selectively Systemic Sclerosis (Scleroderma): Specific (2001) (0)
- The genetic contribution to peripartum thoracic aortic dissection in a retrospective cohort (2023) (0)
- Abstract 3055: ACTA2 Mutations Cause Diverse And Diffuse Vascular Diseases, Including Aortic Aneurysms, Premature Coronary Artery Disease And Moyamoya Disease (2007) (0)
- A mutation in the FBNI gene affects the conversion of profibrillin to fibrillin and is associated with skeletal features of the Marfan syndrome (1995) (0)
- Pathway Genes in Familial Cases of Intracranial Aneurysm β Sequencing of TGF-Print (2009) (0)
- Abstract 2677: Reduction In Tie-2+/flk-1+ Vascular Stem Cells In Thoracic Aortic Aneurysm With Dissections: A Novel Contributor To Acellular Lesion Development (2007) (0)
- A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection (2022) (0)
- Erratum: Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections (The American Journal of Human Genetics (2010) 87 (743-756)) (2013) (0)
- Normal number of CGG repeats in the FMR-1 gene and abnormal incorporation of fibrillin into the extracellular matrix in Lujan Syndrome (1994) (0)
- A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection (2022) (0)
- Abstract 16160: Common Autosomal Variants are Associated With Bicuspid Aortic Valve in Turner Syndrome (2014) (0)
- COL3A1 Gene Mutation Predicts Arterial Involvement and Prognosis in Vascular Ehlers Danlos Syndrome (2013) (0)
- Abstract 115: AT2 Receptor Regulates Ascending Aortic Dilation during AT1 Receptor Blockade in Transverse Aortic Constriction Mouse Model (2018) (0)
- Risk Factors for Thoracic Aortic Dissection (2022) (0)
- Abstract 4276: Characterization of Mechanotransduction Pathways Leading to Thoracic Aortic Aneurysms and Dissections (2008) (0)
- Smooth Muscle Cell – Extracellular Matrix Alterations in Genetic Vasculopathies (2020) (0)
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What Schools Are Affiliated With Dianna Mcgookey Milewicz?
Dianna Mcgookey Milewicz is affiliated with the following schools:
