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Dianna Milewicz

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Kathryn W Holmes; Mark Kindem; Barbara L Kroner; Scott A LeMaire; Cheryl L Maslen; Dianna M Milewicz; Karianna Milewski; Reed E Pyeritz; William J Ravekes; Mary J Roman; Michael Silberbach; Howard K Song; H Eser Tolunay; Jonathan W Weinsaft; Joseph Bavaria; Patrice Desvigne Nickens; Richard B Devereux; Harry C Dietz; Kim A Eagle; Tabitha Hendershot
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
Polakit Teekakirikul; Tomi L Toler; Ronald V Lacro; Dianna M Milewicz; David T Miller; Ellen S Regalado; Ana Maria Rosales; Daniel P Ryan; Angela E Lin
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
Hans Ulrik Moller; Hans C Fledelius; Dianna M Milewicz; Ellen S Regalado; John R Ostergaard
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.

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2013: Kathryn W Holmes; Mark Kindem; Barbara L Kroner; Scott A LeMaire; Cheryl L Maslen; Dianna M Milewicz; Karianna Milewski; Reed E Pyeritz; William J Ravekes; Mary J Roman; Michael Silberbach; Howard K Song; H Eser Tolunay; Jonathan W Weinsaft; Joseph Bavaria; Patrice Desvigne Nickens; Richard B Devereux; Harry C Dietz; Kim A Eagle; Tabitha Hendershot
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.
American journal of medical genetics. Part A 2013;161(4):779-86.
2013: Polakit Teekakirikul; Tomi L Toler; Ronald V Lacro; Dianna M Milewicz; David T Miller; Ellen S Regalado; Ana Maria Rosales; Daniel P Ryan; Angela E Lin
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
American journal of medical genetics. Part A 2013;161A(1):185-91.
2012: Hans Ulrik Moller; Hans C Fledelius; Dianna M Milewicz; Ellen S Regalado; John R Ostergaard
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.
The British journal of ophthalmology 2012;96(9):1227-31.
2012: Pinki Munot; John R Ostergaard; Sunny Philip; Ellen S Regalado; Christopher Rittey; Dawn E Saunders; Thomas S Jacques; Timothy Kerr; Klaske D Lichtenbelt; Dianna M Milewicz; Kees P Braun; Timothy C Cox; Vijeya Ganesan
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
Brain : a journal of neurology 2012;135(Pt 8):2506-14.
2012: catherine boileau; Alan C Braverman; Delphine Detaint; Hyacintha d'Indy; Limin Gong; Laurent Gouya; Bernard Grandchamp; Marie-Sylvie Gross; Dong-Chuan Guo; Nadine Hanna; Guillaume Jondeau; Callie S Kwartler; Suzanne M Leal; Alexander H Li; Jean Baptiste Michel; Christine Muti; Deborah A Nickerson; Siddharth K Prakash; Ellen S Regalado; Mark J Rieder; Regie Lyn P Santos-Cortez; Jay Shendure; Alec Vahanian; Mathilde Varret; Marianne Abifadel; Dianna M Milewicz
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Nature genetics 2012;44(8):916-21.
2012: Shao-Qing Kuang; Callie S Kwartler; Katerina L Byanova; Limin Gong; Jian Huang; Kristine E Kamm; John Pham; Siddharth K Prakash; James T Stull; H Lee Sweeney; Dianna M Milewicz
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.
Circulation research 2012;110(11):1411-22.
2012: Siddharth K Prakash; Claudia Pedroza; Yameen A Khalil; Dianna M Milewicz
Diabetes and reduced risk for thoracic aortic aneurysms and dissections: a nationwide case-control study.
Journal of the American Heart Association 2012;1(2):.
2012: Dianna M Milewicz
MicroRNAs, fibrotic remodeling, and aortic aneurysms.
The Journal of clinical investigation 2012;122(2):490-3.
2012: Howard K Song; Jonathan W Weinsaft; Joseph E Bavaria; Richard B Devereux; Harry C Dietz; Kim A Eagle; Kathryn W Holmes; Mark Kindem; Barbara L Kroner; Scott A LeMaire; Cheryl L Maslen; Victor Menashe; Dianna M Milewicz; Reed E Pyeritz; William J Ravekes
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.
The Journal of thoracic and cardiovascular surgery 2012;143(2):282-6.
2011: Dianna M Milewicz
Stopping a killer: improving the diagnosis, treatment, and prevention of acute ascending aortic dissections.
Circulation 2011;124(18):1902-4.
2011: Barbara L Kroner; Scott A LeMaire; Cheryl L Maslen; Victor Menashe; Dianna M Milewicz; Megan Mitchell; Reed E Pyeritz; William J Ravekes; Danny Ringer; Howard K Song; H Eser Tolunay; Jonathan W Weinsaft; Craig T Basson; Patrice Desvigne Nickens; Richard B Devereux; Harry C Dietz; Tabitha Hendershot; Kathryn W Holmes; Kim A Eagle
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II.
American heart journal 2011;162(4):627-632.e1.
2011: Scott A Lemaire; Cheryl Maslen; Merry-Lynn N McDonald; Charles C Miller; Mary Nguyen; Reed E Pyeritz; Ludivine Russell; Hazim J Safi; Christine Seidman; J G Seidman; Joseph E Bavaria; Reza Bekheirnia; John W Belmont; Simon C Body; Molly S Bray; Joseph S Coselli; Richard Devereux; Kim A Eagle; Anthony L Estrera; Luis M Franco; Dong-Chuan Guo; Kathryn W Holmes; Eric M Isselbacher; Ralph J Johnson; Suzanne M Leal; Dianna M Milewicz
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
Nature genetics 2011;43(10):996-1000.
2011: Steffie N Tomson; Rejnal Tushe; Nili Avidan; Molly S Bray; Suzanne M Leal; Kwanghyuk Lee; Dianna M Milewicz; Anand K Sarma; David M Eagleman
The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.
Behavioural brain research 2011;223(1):48-52.
2011: Ellen S Regalado; Mark J Rieder; Regie L Santos-Cortez; Jay Shendure; Carlos Villamizar; Deborah A Nickerson; Nili Avidan; Francois Bernier; Aida M Bertoli Avella; Lorne Clarke; Dawna Gilchrist; Dong-Chuan Guo; Suzanne M Leal; Barbara McGillivray; Dianna M Milewicz
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Circulation research 2011;109(6):680-6.
2011: Siddharth K Prakash; Kathryn Haden-Pinneri; Dianna M Milewicz
Susceptibility to acute thoracic aortic dissections in patients dying outside the hospital: an autopsy study.
American heart journal 2011;162(3):474-9.
2011: Ellen Regalado; Sanjay Shete; Suzanne Smart; Ralph H Stern; Van Tran-Fadulu; Alan C Braverman; Julia H Chen; Hossein Golabbakhsh; Dong-Chuan Guo; Dong H Kim; Sarah Medrek; Hariyadarshi Pannu; Dianna M Milewicz
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
American journal of medical genetics. Part A 2011;155A(9):2125-30.
2011: Dorinna D Mendoza; Dianna M Milewicz; James K Min; Reed E Pyeritz; Howard Song; Jonathan W Weinsaft; Craig T Basson; Joseph E Bavaria; Richard B Devereux; Harry C Dietz; Kim A Eagle; Kathryn W Holmes; Minisha Kochar; Barbara L Kroner; Scott A LeMaire; Cheryl L Maslen
Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms.
The Annals of thoracic surgery 2011;92(3):904-12.
2011: Shao-Qing Kuang; Callie Kwartler; Suzanne M Leal; Scott A LeMaire; Merry-Lynn N McDonald; Dianna M Milewicz; Siddharth K Prakash; Ellen S Regalado; Ludivine Russell; Hazim J Safi; Min Wang; John W Belmont; Jiu-Mei Cao; Joseph S Coselli; Anthony L Estrera; Kurt Fraivillig; Dong-Chuan Guo; Ralph J Johnson
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
PLoS genetics 2011;7(6):e1002118.
2011: Dong-Chuan Guo; Ellen S Regalado; Charles Minn; Van Tran-Fadulu; Joshua Coney; Jiumei Cao; Min Wang; Robert K Yu; Anthony L Estrera; Hazim J Safi; Sanjay Shete; Dianna M Milewicz
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
Circulation. Cardiovascular genetics 2011;4(1):36-42.
2010: Siddharth K Prakash; Scott A LeMaire; Dong-Chuan Guo; Ludivine Russell; Ellen S Regalado; Hossein Golabbakhsh; Ralph J Johnson; Hazim J Safi; Anthony L Estrera; Joseph S Coselli; Molly S Bray; Suzanne M Leal; Dianna M Milewicz; John W Belmont
Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
American journal of human genetics 2010;87(6):743-56.
2010: Dianna M Milewicz; Ellen S Regalado; Dong-Chuan Guo
Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene.
The Journal of thoracic and cardiovascular surgery 2010;140(6 Suppl):S2-4; discussion S45-51.
2010: Sakiko Inamoto; Callie S Kwartler; Andrea L Lafont; Yao Yun Liang; Van Tran Fadulu; Senthil Duraisamy; Marcia C Willing; Anthony L Estrera; Hazim Safi; Mark C Hannibal; John Carey; John Wiktorowicz; Filemon K Tan; Xin-Hua Feng; Hariyadarshi Pannu; Dianna M Milewicz
TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
Cardiovascular research 2010;88(3):520-9.
2010: Li Wang; Dong-Chuan Guo; Jiumei Cao; Limin Gong; Kristine E Kamm; Ellen Regalado; Li Li; Sanjay Shete; Weiqi He; Min-Sheng Zhu; Stephan Offermanns; Dawna Gilchrist; John Elefteriades; James T Stull; Dianna M Milewicz
Mutations in myosin light chain kinase cause familial aortic dissections.
American journal of human genetics 2010;87(5):701-7.
2010: Dianna M Milewicz; John R Østergaard; Leena M Ala-Kokko; Nadia Khan; Dorothy K Grange; Roberto Mendoza-Londono; Timothy J Bradley; Ann Haskins Olney; Lesley C Adès; Joseph F Maher; Dongchuan Guo; L Maximilian Buja; Dong Kim; James C Hyland; Ellen S Regalado
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
American journal of medical genetics. Part A 2010;152A(10):2437-43.
2010: Amy J Reid; Meenakshi B Bhattacharjee; Ellen S Regalado; Allen L Milewicz; Lisa M El-Hakam; Robert C Dauser; Dianna M Milewicz
Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease.
Journal of neurosurgery. Pediatrics 2010;6(3):244-9.
2010: Siddharth Prakash; Scott A LeMaire; Molly S Bray; Dianna M Milewicz; John W Belmont
Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.
American journal of medical genetics. Part A 2010;152A(9):2399-405.
2010: Loren F Hiratzka; George L Bakris; Joshua A Beckman; Robert M Bersin; Vincent F Carr; Donald E Casey; Kim A Eagle; Luke K Hermann; Eric M Isselbacher; Ella Annabelle Kazerooni; Nicholas T Kouchoukos; Bruce W Lytle; Dianna M Milewicz; David L Reich; Souvik Sen; Julie A Shinn; Lars G Svensson; david m williams
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 Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions 2010;76(2):E43-86.
2010: Loren F Hiratzka; George L Bakris; Joshua A Beckman; Robert M Bersin; Vincent F Carr; Donald E Casey; Kim A Eagle; Luke K Hermann; Eric M Isselbacher; Ella Annabelle Kazerooni; Nicholas T Kouchoukos; Bruce W Lytle; Dianna M Milewicz; David L Reich; Souvik Sen; Julie A Shinn; Lars G Svensson; david m williams
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 Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
Anesthesia and analgesia 2010;111(2):279-315.
2010: Bart Loeys; Harry C Dietz; Alan C Braverman; Bert L Callewaert; Julie De Backer; Richard B Devereux; Yvonne Hilhorst-Hofstee; Guillaume Jondeau; Laurence Faivre; Dianna M Milewicz; Reed E Pyeritz; Paul D Sponseller; Paul Wordsworth; Anne M De Paepe
The revised Ghent nosology for the Marfan syndrome.
Journal of medical genetics 2010;47(7):476-85.
2010: Jiumei Cao; Limin Gong; Dong-Chuan Guo; Ulrike Mietzsch; Shao-Qing Kuang; Callie S Kwartler; Hazim Safi; Anthony L Estrera; Michael J Gambello; Dianna M Milewicz
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice.
Human molecular genetics 2010;19(10):1908-20.
2010: Dianna M Milewicz; Alicia A Carlson; Ellen S Regalado
Genetic testing in aortic aneurysm disease: PRO.
Cardiology clinics 2010;28(2):191-7.
2010: Loren F Hiratzka; George L Bakris; Joshua A Beckman; Robert M Bersin; Vincent F Carr; Donald E Casey; Kim A Eagle; Luke K Hermann; Eric M Isselbacher; Ella Annabelle Kazerooni; Nicholas T Kouchoukos; Bruce W Lytle; Dianna M Milewicz; David L Reich; Souvik Sen; Julie A Shinn; Lars G Svensson; david m williams
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, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons,and Society for Vascular Medicine.
Journal of the American College of Cardiology 2010;55(14):e27-e129.
2010: Loren F Hiratzka; George L Bakris; Joshua A Beckman; Robert M Bersin; Vincent F Carr; Donald E Casey; Kim A Eagle; Luke K Hermann; Eric M Isselbacher; Ella Annabelle Kazerooni; Nicholas T Kouchoukos; Bruce W Lytle; Dianna M Milewicz; David L Reich; Souvik Sen; Julie A Shinn; Lars G Svensson; david m williams
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, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
Circulation 2010;121(13):e266-369.
2010: Dianna M Milewicz; Callie S Kwartler; Christina L Papke; Ellen S Regalado; Jiumei Cao; Amy J Reid
Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(4):196-203.
2010: Carlos Villamizar; Ellen S Regalado; Van Tran Fadulu; Sumera N Hasham; Prateek Gupta; Marcia C Willing; Shao-Qing Kuang; Dongchuan Guo; Ann Muilenburg; Richard W Yee; Yuxin Fan; Jeffrey Towbin; Joseph S Coselli; Scott A LeMaire; Dianna M Milewicz
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
European journal of medical genetics 2010;53(2):80-4.
2010: Ariel Brautbar; Scott A LeMaire; Luis M Franco; Joseph S Coselli; Dianna M Milewicz; John W Belmont
FBN1 mutations in patients with descending thoracic aortic dissections.
American journal of medical genetics. Part A 2010;152A(2):413-6.
2009: Brian C Tieu; Chang Lee; Hong Sun; Wanda Lejeune; Adrian Recinos; Xiaoxi Ju; Heidi Spratt; Dong-Chuan Guo; Dianna M Milewicz; Ronald G Tilton; allan brasier
An adventitial IL-6/MCP1 amplification loop accelerates macrophage-mediated vascular inflammation leading to aortic dissection in mice.
The Journal of clinical investigation 2009;119(12):3637-51.
2009: Anthony Estrera; Charles Miller; Taek-Yeon Lee; Paola De Rango; Saad Abdullah; Jon-Cecil Walkes; Dianna M Milewicz; Hazim Safi
Acute type A intramural hematoma: analysis of current management strategy.
Circulation 2009;120(11 Suppl):S287-91.
2009: Howard K Song; Joseph E Bavaria; Mark W Kindem; Kathryn W Holmes; Dianna M Milewicz; Cheryl L Maslen; Reed E Pyeritz; Craig T Basson; Kim A Eagle; H Eser Tolunay; Barbara L Kroner; Harry C Dietz; Victor Menashe; Richard B Devereux; Patrice Desvigne Nickens; William J Ravekes; Jonathan W Weinsaft; Donald Brambilla; Mario P Stylianou; Tabitha Hendershot; Megan S Mitchell; Scott A LeMaire
Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions.
The Annals of thoracic surgery 2009;88(3):781-7; discussion 787-8.
2009: Van Tran-Fadulu; Hariyadarshi Pannu; Dong H Kim; G Wesley Vick; C M Lonsford; A L Lafont; Cristina Boccalandro; S Smart; K L Peterson; J Zenger Hain; Marcia C Willing; Joseph S Coselli; Scott A LeMaire; Chul Ahn; P H Byers; Dianna M Milewicz
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Journal of medical genetics 2009;46(9):607-13.
2009: Irina V Volguina; D Craig Miller; Scott A LeMaire; Laura C Palmero; Xing Li Wang; Heidi M Connolly; Thoralf M Sundt; Joseph E Bavaria; Harry C Dietz; Dianna M Milewicz; Joseph S Coselli
Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: Analysis of early outcome.
The Journal of thoracic and cardiovascular surgery 2009;137(5):1124-32.
2009: Teresa Santiago-Sim; Sumy Mathew-Joseph; Hariyadarshi Pannu; Dianna M Milewicz; Christine E Seidman; Jonathan G Seidman; Dong H Kim
Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
Stroke; a journal of cerebral circulation 2009;40(5):1604-11.
2009: Irina V Volguina; D Craig Miller; Scott A LeMaire; Laura C Palmero; Xing Li Wang; Heidi M Connolly; Thoralf M Sundt; Joseph E Bavaria; Harry C Dietz; Dianna M Milewicz; Joseph S Coselli
Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: analysis of early outcome.
The Journal of thoracic and cardiovascular surgery 2009;137(3):641-9.
2008: Rumin He; Dong-Chuan Guo; Wei Sun; Christina L Papke; Senthil Duraisamy; Anthony L Estrera; Hazim J Safi; Chul Ahn; L Maximilian Buja; Frank C Arnett; Jingwu Zhang; Yong-Jian Geng; Dianna M Milewicz
Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms.
The Journal of thoracic and cardiovascular surgery 2008;136(4):922-9, 929.e1.
2008: Dong-Chuan Guo; Prateek Gupta; Van Tran-Fadulu; Tera V Guidry; Magalie S Leduc; Frederick V Schaefer; Dianna M Milewicz
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
Journal of human genetics 2008;53(11-12):1007-11.
2008: Dianna M Milewicz; Dong-Chuan Guo; Van Tran-Fadulu; Andrea L Lafont; Christina L Papke; Sakiko Inamoto; Carrie S Kwartler; Hariyadarshi Pannu
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
Annual review of genomics and human genetics 2008;9():283-302.
2007: Dong-Chuan Guo; Hariyadarshi Pannu; Van Tran-Fadulu; Christina L Papke; Robert K Yu; Nili Avidan; Scott Bourgeois; Anthony L Estrera; Hazim J Safi; Elizabeth Sparks; David Amor; Lesley Ades; Vivienne McConnell; Colin Willoughby; Dianne Abuelo; Marcia C Willing; Richard A Lewis; Dong H Kim; Steve Scherer; Poyee P Tung; Chul Ahn; L Maximilian Buja; C.S. Raman; Sanjay Shete; Dianna M Milewicz
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Nature genetics 2007;39(12):1488-93.
2007: Hariyadarshi Pannu; Van Tran-Fadulu; Christina L Papke; Steve Scherer; Yaozhong Liu; Caroline Presley; Dongchuan Guo; Anthony L Estrera; Hazim J Safi; allan brasier; G Wesley Vick; A J Marian; C.S. Raman; L Maximilian Buja; Dianna M Milewicz
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
Human molecular genetics 2007;16(20):2453-62.
2007: Scott A LeMaire; Hariyadarshi Pannu; Van Tran-Fadulu; Stacey A Carter; Joseph S Coselli; Dianna M Milewicz
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
Nature clinical practice. Cardiovascular medicine 2007;4(3):167-71.
2007: Zizhen Yao; Jochen Jaeger; Walter L Ruzzo; Cecile Z Morale; Mary Emond; Uta Francke; Dianna M Milewicz; Stephen M Schwartz; Eileen R Mulvihill
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
BMC genomics 2007;8():319.
2007: Dong-Chuan Guo; Dianna M Milewicz
Universal primer applications for pyrosequencing.
Methods in molecular biology (Clifton, N.J.) 2007;373():57-62.
2006: Dong-Chuan Guo; Christina L Papke; Rumin He; Dianna M Milewicz
Pathogenesis of thoracic and abdominal aortic aneurysms.
Annals of the New York Academy of Sciences 2006;1085():339-52.
2006: Hariyadarshi Pannu; Nili Avidan; Van Tran-Fadulu; Dianna M Milewicz
Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms.
Annals of the New York Academy of Sciences 2006;1085():242-55.
2006: Hariyadarshi Pannu; Dong H Kim; Dongchuan Guo; Terri King; Grace Van Ginhoven; Toinette Chin; Katherine Chang; Yuhua Qi; Sanjay Shete; Dianna M Milewicz
The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms.
Journal of neurosurgery 2006;105(3):418-23.
2006: Bart Loeys; Ulrike Schwarze; Tammy M Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne De Paepe; Harry C Dietz
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
The New England journal of medicine 2006;355(8):788-98.
2006: Scott A LeMaire; Stacey A Carter; Irina V Volguina; Anne T Laux; Dianna M Milewicz; Garry W Borsato; Catherine K Cheung; John Bozinovski; Jennifer M Markesino; William K Vaughn; Joseph S Coselli
Spectrum of aortic operations in 300 patients with confirmed or suspected Marfan syndrome.
The Annals of thoracic surgery 2006;81(6):2063-78; discussion 2078.
2006: Van Tran-Fadulu; Julia H Chen; Danielle Lemuth; Bo T Neichoy; Jiuhong Yuan; Nathan Gomes; Elizabeth Sparks; Larry A Kramer; Dongchuan Guo; Hariyadarshi Pannu; Alan C Braverman; Sanjay Shete; Dianna M Milewicz
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women.
American journal of medical genetics. Part A 2006;140(11):1196-202.
2006: Rumin He; Dong-Chuan Guo; Anthony L Estrera; Hazim J Safi; Tam T T Huynh; Zhengnan Yin; Shi-Nian Cao; Jing Lin; Thomas Kurian; L Maximilian Buja; Yong-Jian Geng; Dianna M Milewicz
Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections.
The Journal of thoracic and cardiovascular surgery 2006;131(3):671-8.
2005: Hariyadarshi Pannu; Van Tran-Fadulu; Dianna M Milewicz
Genetic basis of thoracic aortic aneurysms and aortic dissections.
American journal of medical genetics. Part C, Seminars in medical genetics 2005;139C(1):10-6.
2005: Xiaodong Zhou; Filemon K Tan; Dianna M Milewicz; Xinjian Guo; Constantin A Bona; Frank C Arnett
Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF-beta pathway to recapitulate the "scleroderma phenotype".
Journal of immunology (Baltimore, Md. : 1950) 2005;175(7):4555-60.
2005: Hariyadarshi Pannu; Van Tran Fadulu; Jessica Chang; Andrea Lafont; Sumera N Hasham; Elizabeth Sparks; Philip F Giampietro; Christina Zaleski; Anthony L Estrera; Hazim J Safi; Sanjay Shete; Marcia C Willing; C.S. Raman; Dianna M Milewicz
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
Circulation 2005;112(4):513-20.
2005: Hariyadarshi Pannu; Dong H Kim; C Robyn Seaman; Grace Van Ginhoven; Sanjay Shete; Dianna M Milewicz
Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States.
Journal of neurosurgery 2005;103(1):92-6.
2005: Dong H Kim; Grace Van Ginhoven; Dianna M Milewicz
Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families.
Neurosurgery 2005;56(4):655-61; discussion 655-61.
2005: Dianna M Milewicz; Harry C Dietz; D Craig Miller
Treatment of aortic disease in patients with Marfan syndrome.
Circulation 2005;111(11):e150-7.
2005: Filemon K Tan; Bernard August Hildebrand; Malisa S Lester; David N Stivers; Stanley Pounds; Xiaodong Zhou; Debra D Wallis; Dianna M Milewicz; John D Reveille; MD Mayes; Li Jin; Frank C Arnett
Classification analysis of the transcriptosome of nonlesional cultured dermal fibroblasts from systemic sclerosis patients with early disease.
Arthritis and rheumatism 2005;52(3):865-76.
2005: Xiaodong Zhou; Filemon K Tan; Xinjian Guo; Debra D Wallis; Dianna M Milewicz; Sarah Xue; Frank C Arnett
Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts.
Arthritis and rheumatism 2005;52(1):257-61.
2004: P A Gupta; D D Wallis; T O Chin; H Northrup; Van Tran-Fadulu; J A Towbin; Dianna M Milewicz
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.
Journal of medical genetics 2004;41(5):e56.
2004: Cristina Boccalandro; Fabrizio De Mattia; Dong-Chuan Guo; Li Xue; Philip R Orlander; Terri King; Prateek Gupta; Peter M T Deen; Victor R Lavis; Dianna M Milewicz
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.
Journal of the American Society of Nephrology : JASN 2004;15(5):1223-31.
2004: Debra D Wallis; Filemon K Tan; Rebecca Kessler; Misty D Kimball; Jill S Cretoiu; Frank C Arnett; Dianna M Milewicz
Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma).
Arthritis and rheumatism 2004;50(1):329-32.
2004: Sumera N Hasham; Matthew R Lewin; Van T Tran; Hariyadarshi Pannu; Ann Muilenburg; Marcia C Willing; Dianna M Milewicz
Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.
Annals of emergency medicine 2004;43(1):79-82.
2003: Dong-Chuan Guo; Dianna M Milewicz
Methodology for using a universal primer to label amplified DNA segments for molecular analysis.
Biotechnology letters 2003;25(24):2079-83.
2003: Debra D Wallis; Elizabeth A Putnam; Jill S Cretoiu; Sonya G Carmical; Shi-Nian Cao; Gary Thomas; Dianna M Milewicz
Profibrillin-1 maturation by human dermal fibroblasts: proteolytic processing and molecular chaperones.
Journal of cellular biochemistry 2003;90(3):641-52.
2003: Dong-Chuan Guo; Yuhua Qi; Rumin He; Prateek Gupta; Dianna M Milewicz
High throughput detection of small genomic insertions or deletions by Pyrosequencing.
Biotechnology letters 2003;25(20):1703-7.
2003: Xiaodong Zhou; Filemon K Tan; Ning Wang; Momiao Xiong; Samuel Maghidman; John D Reveille; Dianna M Milewicz; Ranajit Chakraborty; Frank C Arnett
Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence.
Arthritis and rheumatism 2003;48(9):2585-92.
2003: Zhi-Dong Jiang; Pablo C Okhuysen; Dong-Chuan Guo; Rumin He; Terri King; Herbert L DuPont; Dianna M Milewicz
Genetic susceptibility to enteroaggregative Escherichia coli diarrhea: polymorphism in the interleukin-8 promotor region.
The Journal of infectious diseases 2003;188(4):506-11.
2003: Dong H Kim; Grace Van Ginhoven; Dianna M Milewicz
Incidence of familial intracranial aneurysms in 200 patients: comparison among Caucasian, African-American, and Hispanic populations.
Neurosurgery 2003;53(2):302-8.
2003: Sumera N Hasham; Marcia C Willing; Dong-Chuan Guo; Ann Muilenburg; Rumin He; Van T Tran; Steven E Scherer; Sanjay Shete; Dianna M Milewicz
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
Circulation 2003;107(25):3184-90.
2003: Sylvia A Frazier-Bowers; K Y Pham; E V Le; Adriana Cavender; Hitesh Kapadia; Terri King; Dianna M Milewicz; Rena N D'Souza
A unique form of hypodontia seen in Vietnamese patients: clinical and molecular analysis.
Journal of medical genetics 2003;40(6):e79.
2003: Mark C Vital; Helen A Mintz-Hittner; Dianna M Milewicz
Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.
Archives of ophthalmology 2003;121(4):579-81.
2002: Sumera N Hasham; Dong-Chuan Guo; Dianna M Milewicz
Genetic basis of thoracic aortic aneurysms and dissections.
Current opinion in cardiology 2002;17(6):677-83.
2002: Xiaodong Zhou; Filemon K Tan; John D Reveille; Debra D Wallis; Dianna M Milewicz; Chul Ahn; Andrew Wang; Frank C Arnett
Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma.
Arthritis and rheumatism 2002;46(11):2990-9.
2002: Sylvia A Frazier-Bowers; Dong-Chuan Guo; Adriana Cavender; L Xue; B Evans; T King; Dianna M Milewicz; Rena N D'Souza
A novel mutation in human PAX9 causes molar oligodontia.
Journal of dental research 2002;81(2):129-33.
2002: Prateek A Gupta; Elizabeth A Putnam; Sonya G Carmical; Ilkka Kaitila; Beat Steinmann; Anne Child; Cesare Danesino; Kay Metcalfe; Susan A Berry; Emily Chen; Catherine Vincent Delorme; Meow-Keong Thong; Lesley C Adès; Dianna M Milewicz
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Human mutation 2002;19(1):39-48.
2001: Xiaodong Zhou; Filemon K Tan; M Xiong; Dianna M Milewicz; C A Feghali; M J Fritzler; John D Reveille; Frank C Arnett
Systemic sclerosis (scleroderma): specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts.
Journal of immunology (Baltimore, Md. : 1950) 2001;167(12):7126-33.
2001: Debra D Wallis; Filemon K Tan; C M Kielty; M D Kimball; Frank C Arnett; Dianna M Milewicz
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma).
Arthritis and rheumatism 2001;44(8):1855-64.
2001: D Guo; Filemon K Tan; A Cantu; S E Plon; Dianna M Milewicz
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
American journal of medical genetics 2001;101(2):130-4.
2001: Carl J Vaughan; M Casey; J He; Mark A Veugelers; Kiersten Henderson; D Guo; R Campagna; M J Roman; Dianna M Milewicz; Richard B Devereux; Craig T Basson
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.
Circulation 2001;103(20):2469-75.
2001: Dongchuan Guo; Sumera N Hasham; S Q Kuang; Carl J Vaughan; Eric Boerwinkle; Hongjiang Chen; Dianne Abuelo; Harry C Dietz; Craig T Basson; Sanjay Shete; Dianna M Milewicz
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.
Circulation 2001;103(20):2461-8.
2001: Filemon K Tan; N Wang; M Kuwana; R Chakraborty; Constantin A Bona; Dianna M Milewicz; Frank C Arnett
Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations.
Arthritis and rheumatism 2001;44(4):893-901.
2001: S Q Kuang; Sumera N Hasham; M D Phillips; D Wolf; Y Wan; Perumal Thiagarajan; Dianna M Milewicz
Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas.
Blood 2001;97(6):1549-54.
2000: Dianna M Milewicz; C E Seidman
Genetics of cardiovascular disease.
Circulation 2000;102(20 Suppl 4):IV103-11.
2000: Dianna M Milewicz; Z Urbán; C Boyd
Genetic disorders of the elastic fiber system.
Matrix biology : journal of the International Society for Matrix Biology 2000;19(6):471-80.
2000: Andrea Guala; Cesare Danesino; Dianna M Milewicz; Elizabeth A Putnam; Piergiorgio Franceschini
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly.
Genetic counseling (Geneva, Switzerland) 2000;11(1):57-8.
1999: Lesley C Adès; R Davies; Eric A Haan; Katherine J Holman; K C Watson; D Sreetharan; Shi-Nian Cao; Dianna M Milewicz; John F Bateman; A A Chiodo; M Eccles; LA McNoe; M Harbord
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.
Clinical dysmorphology 1999;8(4):269-76.
1999: Michael Raghunath; Elizabeth A Putnam; Timothy Ritty; Daniel A Hamstra; E S Park; M Tschödrich-Rotter; Reiner Peters; Alnawaz Rehemtulla; Dianna M Milewicz
Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix.
Journal of cell science 1999;112 ( Pt 7)():1093-100.
1998: Filemon K Tan; David N Stivers; Morris W Foster; R Chakraborty; R F Howard; Dianna M Milewicz; Frank C Arnett
Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population.
Arthritis and rheumatism 1998;41(10):1729-37.
1998: Dianna M Milewicz; H Chen; ES Park; Elizabeth M Petty; H Zaghi; G Shashidhar; Marcia C Willing; Vijaykumar Surendrakant Patel
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections.
The American journal of cardiology 1998;82(4):474-9.
1998: ES Park; Elizabeth A Putnam; D Chitayat; Anne Child; Dianna M Milewicz
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.
American journal of medical genetics 1998;78(4):350-5.
1998: Dianna M Milewicz
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.
Current opinion in cardiology 1998;13(3):198-204.
1997: K L Leung; Dianna M Milewicz; M D Phillips; E Barasch
Nonbacterial thrombotic endocarditis in three members of a family.
The New England journal of medicine 1997;336(23):1677-8.
1997: Elizabeth A Putnam; ES Park; C M Aalfs; Raoul Hennekam; Dianna M Milewicz
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.
American journal of human genetics 1997;60(4):818-27.
1996: Lesley C Adès; W B Knight; R W Byard; John F Bateman; J A Esquivel; R B Mee; Eric A Haan; Dianna M Milewicz
Clinicopathologic findings in congenital aneurysms of the great vessels.
American journal of medical genetics 1996;66(3):289-99.
1996: Dianna M Milewicz; K Michael; N Fisher; J S Coselli; T Markello; A Biddinger
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
Circulation 1996;94(11):2708-11.
1996: Nancy H Miller; B Mims; A Child; Dianna M Milewicz; Paul D Sponseller; S Blanton
Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 1996;14(6):994-9.
1996: Elizabeth A Putnam; M Cho; A B Zinn; J A Towbin; P H Byers; Dianna M Milewicz
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
American journal of medical genetics 1996;62(3):233-42.
1996: Dianna M Milewicz; P H Byers; J Reveille; Austin Hughes; M Duvic
A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific.
Journal of molecular evolution 1996;42(2):117-23.
1995: Elizabeth A Putnam; H Zhang; F Ramirez; Dianna M Milewicz
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
Nature genetics 1995;11(4):456-8.
1995: Lesley C Adès; L L Morris; R G Power; M Wilson; Eric A Haan; John F Bateman; Dianna M Milewicz; D O Sillence
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.
American journal of medical genetics 1995;57(4):565-72.
1995: Dianna M Milewicz; J Grossfield; S N Cao; C Kielty; Wesley Covitz; T Jewett
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
The Journal of clinical investigation 1995;95(5):2373-8.
1995: R Finkbohner; D Johnston; E S Crawford; J Coselli; Dianna M Milewicz
Marfan syndrome. Long-term survival and complications after aortic aneurysm repair.
Circulation 1995;91(3):728-33.
1994: N Hadley-Miller; B Mims; Dianna M Milewicz
The potential role of the elastic fiber system in adolescent idiopathic scoliosis.
The Journal of bone and joint surgery. American volume 1994;76(8):1193-206.
1994: Dianna M Milewicz; M Duvic
Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.
American journal of human genetics 1994;54(3):447-53.
1994: Dianna M Milewicz
Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.
Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital 1994;21(1):22-9.
1993: Philip R Cohen; Dianna M Milewicz
Dolichonychia in a patient with the Marfan syndrome.
The Journal of dermatology 1993;20(12):779-82.