Publications by authors named "Reed E Pyeritz"

99Publications

Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort.

Pediatr Neurol 2020 09 25;110:49-54. Epub 2020 May 25.

Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.05.008DOI Listing
September 2020

Postembolotherapy Pulmonary Arteriovenous Malformation Follow-Up: A Role for Graded Transthoracic Contrast Echocardiography Prior to High-Resolution Chest CT Scan.

Chest 2020 May 30;157(5):1278-1286. Epub 2019 Nov 30.

Department of Radiology, Division of Interventional Radiology and Penn HHT Center of Excellence, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address:

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http://dx.doi.org/10.1016/j.chest.2019.11.023DOI Listing
May 2020

Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry.

Ann Thorac Surg 2020 05 27;109(5):1378-1384. Epub 2019 Sep 27.

Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.athoracsur.2019.08.047DOI Listing
May 2020

Persistence of Pulmonary Arteriovenous Malformation after Embolization: Another Reason to Quit Smoking.

Radiology 2019 Sep 30;292(3):771-772. Epub 2019 Jul 30.

From the Departments of Radiology (S.O.T.) and Medical Genetics (R.E.P.), Perelman School of Medicine at the University of Pennsylvania, Penn Hereditary Hemorrhagic Telangiectasia Center of Excellence, Hospital of the University of Pennsylvania, 3400 Spruce St, 1 Silverstein, Philadelphia, PA 19104.

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http://dx.doi.org/10.1148/radiol.2019191443DOI Listing
September 2019

FBN1 Coding Variants and Nonsyndromic Aortic Disease.

Circ Genom Precis Med 2019 06 18;12(6):e002454. Epub 2019 Jun 18.

Medicine (K.H., D.J.R., R.E.P.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002454DOI Listing
June 2019

Response to Knoppers et al.

Genet Med 2019 10 11;21(10):2403. Epub 2019 Apr 11.

Division of Translational Medicine and Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-019-0496-zDOI Listing
October 2019

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2019 04 22;21(4):769-771. Epub 2018 Dec 22.

Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0391-zDOI Listing
April 2019

Marfan syndrome: improved clinical history results in expanded natural history.

Authors:
Reed E Pyeritz

Genet Med 2019 08 21;21(8):1683-1690. Epub 2018 Dec 21.

Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0399-4DOI Listing
August 2019

Comparison of Outcomes in DeBakey Type AI Versus AII Aortic Dissection.

Am J Cardiol 2018 08 30;122(4):689-695. Epub 2018 Jun 30.

Minneapolis Heart Institute Foundation at Abbott-Northwestern Hospital, Minneapolis, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.amjcard.2018.04.042DOI Listing
August 2018

Covered Stents in the Treatment of Pulmonary Arteriovenous Malformations.

J Vasc Interv Radiol 2018 07;29(7):981-985

Department of Radiology, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.jvir.2017.12.024DOI Listing
July 2018

Etiology and pathogenesis of the Marfan syndrome: current understanding.

Authors:
Reed E Pyeritz

Ann Cardiothorac Surg 2017 Nov;6(6):595-598

Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.21037/acs.2017.10.04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721105PMC
November 2017

Chronobiology of Acute Aortic Syndromes.

Heart Fail Clin 2017 Oct 11;13(4):697-701. Epub 2017 Jul 11.

Division of Cardiology, University of Michigan School of Public Health, Domino's Farms, University of Michigan, 24 Frank Lloyd Wright Drive, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1016/j.hfc.2017.05.006DOI Listing
October 2017

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

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.

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Division of Cardiology, Weill Cornell Medicine, New York, NY (M.J.R., R.B.D., J.W.W.); Biostatistics and Epidemiology Division, RTI International, Rockville, MD (L.R.P.); MedStar Cardiovascular Research Network, Washington, DC (F.M.A.); Division of Cardiology, University of Michigan Health System, Ann Arbor (K.A.E.); Department of Pediatrics (K.W.H.), Division of Cardiothoracic Surgery (H.K.S.), and Knight Cardiovascular Institute (C.L.M.), Oregon Health & Science University, Portland; Division of Cardiothoracic Surgery (S.A.L.) and Division of Pediatric Cardiology, Department of Pediatrics (S.A.M.), Baylor College of Medicine, Houston, TX; Department of Cardiovascular Surgery, Texas Heart Institute, Houston (S.A.L.); Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, San Antonio (D.M.M., S.K.P.); Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.E.P.); Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD (W.J.R.); and Department of Medicine, John A. Burns School of Medicine, Honolulu, HI (R.V.S.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500868PMC
June 2017

A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence.

Cardiovasc Intervent Radiol 2017 Jul 10;40(7):1003-1009. Epub 2017 Feb 10.

Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine, Hospital of the University of Pennsylvania, 1 Silverstein, 3400 Spruce Street, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00270-017-1604-6DOI Listing
July 2017

Recent progress in understanding the natural and clinical histories of the Marfan syndrome.

Authors:
Reed E Pyeritz

Trends Cardiovasc Med 2016 07 13;26(5):423-8. Epub 2016 Jan 13.

Departments of Medicine and Genetics, Smilow Center for Translational Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address:

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http://dx.doi.org/10.1016/j.tcm.2015.12.003DOI Listing
July 2016

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection.

Can J Cardiol 2016 Jan 14;32(1):86-99. Epub 2015 Nov 14.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.cjca.2015.11.007DOI Listing
January 2016

Gene-environment interactions.

Authors:
Reed E Pyeritz

Genet Med 2015 Nov 10;17(11):943-5. Epub 2015 Sep 10.

Department of Medicine, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2015.126DOI Listing
November 2015

Atenolol versus losartan in children and young adults with Marfan's syndrome.

N Engl J Med 2014 Nov 18;371(22):2061-71. Epub 2014 Nov 18.

From Boston Children's Hospital, Boston (R.V.L., S.D.C., E.S.S.T., J.C.L.); Johns Hopkins University School of Medicine, Baltimore (H.C.D.); New England Research Institutes, Watertown, MA (L.A.S., S.D.C., S.C., G.L.K.); Primary Children's Hospital and the University of Utah, Salt Lake City (A.T.Y.); Hospital for Sick Children, Toronto (T.J.B., E.R.); National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (G.D.P., V.L.P., M.P.S.); Medical University of South Carolina, Charleston (A.M.A.); Cincinnati Children's Medical Center, Cincinnati (D.W.B.); Washington University School of Medicine, St. Louis (A.C.B., A.M.S.); Ghent University Hospital, Ghent, Belgium (J.D.B., B.L.L.); Icahn School of Medicine at Mount Sinai (B.D.G.), Children's Hospital of New York (W.W.L.), and Weill Medical College of Cornell University (M.J.R.) - all in New York; Rady Children's Hospital, University of California, San Diego (P.D.G.); Texas Children's Hospital, Houston (A.L.); Vanderbilt University School of Medicine, Nashville (L.W.M.); Seattle Children's Hospital, Seattle (A.K.O.); Children's Hospital of Philadelphia (S.M.P.) and the University of Pennsylvania (R.E.P.), Philadelphia; Children's Hospital and Clinics of Minnesota, Minneapolis (M.E.P.); Duke University Medical Center, Durham, NC (S.B.W.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (L.T.Y.); and the University of Texas Southwestern Medical Center, Dallas (L.M.).

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http://dx.doi.org/10.1056/NEJMoa1404731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386623PMC
November 2014

What is the optimal medical therapy for Marfan syndrome?

Authors:
Reed E Pyeritz

J Pediatr 2014 Nov 11;165(5):889-90. Epub 2014 Sep 11.

Smilow Center for Translational Research, Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.08.002DOI Listing
November 2014

"Use it or lose it" as an alternative approach to protect genetic privacy in personalized medicine.

Urol Oncol 2014 Feb;32(2):198-201

Center for the Integration of Genetic Healthcare Technologies (CIGHT), University of Pennsylvania, Philadelphia, PA. Electronic address:

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http://dx.doi.org/10.1016/j.urolonc.2013.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970576PMC
February 2014

Heritable thoracic aortic disorders.

Authors:
Reed E Pyeritz

Curr Opin Cardiol 2014 Jan;29(1):97-102

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http://dx.doi.org/10.1097/HCO.0000000000000023DOI Listing
January 2014

Stroke and outcomes in patients with acute type A aortic dissection.

Circulation 2013 Sep;128(11 Suppl 1):S175-9

Department of Cardiology, University of Salerno, Salerno, Italy (E.B.); Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI (D.C.C., E.K.-R., D.G.M., K.A.E.); Abbott-Northwestern Hospital, Minneapolis Heart Institute, Minneapolis, MN (K.M.H.); Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan (T.S.); Department of Interventional Cardiology, San Salvatore Hospital, Pesaro, Italy (R.F.); Department of Cardiac Sciences, University of Calgary, Calgary, Canada (S.H.); Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria (M.P.E.); Division of Medical Genetics, University of Pennsylvania, Philadelphia, PA (R.E.P.); Department of Cardiology, Hôpital Bichat, Paris, France (P.G.S.); Division of Cardiovascular Surgery, Mayo Clinic, Rochester, MN (K.G.); Servei de Cardiologia, Hospital General Universitari Vall d'Hebron, Barcelona, Spain (A.E.); Thoracic Aortic Center, Massachusetts General Hospital, Boston, MA (E.M.I.); and Department of Internal Medicine, University of Rostock, Rostock, Germany (C.A.N.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.112.000327DOI Listing
September 2013

A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.

J Genet Couns 2014 Aug 14;23(4):474-88. Epub 2013 Sep 14.

Center for the Integration of Genetic Health Care Technologies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA,

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http://dx.doi.org/10.1007/s10897-013-9653-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955216PMC
August 2014

Treated pulmonary arteriovenous malformations: patterns of persistence and associated retreatment success.

Radiology 2013 Dec 28;269(3):919-26. Epub 2013 Oct 28.

From the Department of Radiology, Division of Interventional Radiology (C.S.W., S.O.T.), and Department of Medicine, Division of Translational Medicine and Human Genetics (R.E.P.), University of Pennsylvania Medical Center, Hospital of the University of Pennsylvania, 1 Silverstein, 3400 Spruce St, Philadelphia, PA 19104; and Department of Medicine, Division of Biostatistics, Drexel University School of Medicine, Philadelphia, Pa (J.L.C.).

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http://dx.doi.org/10.1148/radiol.13122153DOI Listing
December 2013

Ethical challenges of the use of whole exome sequencing in the clinic.

World J Pediatr Congenit Heart Surg 2013 Jan;4(1):58-61

Department of Medicine, Division of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1177/2150135112462590DOI Listing
January 2013

Incorporating direct-to-consumer genomic information into patient care: attitudes and experiences of primary care physicians.

Per Med 2012 Sep;9(7):683-692

Division of Translational Medicine & Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1115, Philadelphia, PA 19104, USA ; Penn Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.2217/pme.12.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684987PMC
September 2012

Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli.

Am J Cardiol 2013 Sep 21;112(5):731-4. Epub 2013 May 21.

Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.amjcard.2013.04.052DOI Listing
September 2013

David L. Rimoin, MD, PhD: 1936-2012.

Authors:
Reed E Pyeritz

Genet Med 2012 Jul;14(7):697-8

Departments of Medicine and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/gim.2012.79DOI Listing
July 2012

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.

Genet Med 2012 Jun 26;14(6):604-10. Epub 2012 Jan 26.

Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://www.nature.com/articles/gim201156
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http://dx.doi.org/10.1038/gim.2011.56DOI Listing
June 2012

"What does it mean?": uncertainties in understanding results of chromosomal microarray testing.

Genet Med 2012 Feb 5;14(2):250-8. Epub 2012 Jan 5.

Center for the Integration of Genetic Healthcare Technologies, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/gim.2011.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445036PMC
February 2012

Evaluation of the adolescent or adult with some features of Marfan syndrome.

Authors:
Reed E Pyeritz

Genet Med 2012 Jan 5;14(1):171-7. Epub 2012 Jan 5.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2011.48DOI Listing
January 2012

The family history: the first genetic test, and still useful after all those years?

Authors:
Reed E Pyeritz

Genet Med 2012 Jan 7;14(1):3-9. Epub 2011 Oct 7.

Center for the Integration of Genetic Healthcare Technologies, Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.0b013e3182310bcfDOI Listing
January 2012

The 8th international research symposium on the Marfan syndrome and related conditions.

Am J Med Genet A 2012 Jan 2;158A(1):42-9. Epub 2011 Dec 2.

Department of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.34386DOI Listing
January 2012

Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.

Am J Med Genet A 2011 Dec 7;155A(12):3090-4. Epub 2011 Nov 7.

Department of Radiology, The Raymond and Ruth Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.34332DOI Listing
December 2011

The coming explosion in genetic testing--is there a duty to recontact?

Authors:
Reed E Pyeritz

N Engl J Med 2011 Oct;365(15):1367-9

Center for the Integration of Genetic Healthcare Technologies, Leonard Davis Institute for Health Economics, University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1056/NEJMp1107564DOI Listing
October 2011

When genetic screening is useful, but not used.

LDI Issue Brief 2011 Jul-Aug;16(8):1-4

Center for Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, PA, USA.

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August 2011

Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia.

Genet Med 2011 Sep;13(9):812-20

Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Pennsylvania, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31821d2e6dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166421PMC
September 2011

Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.

Genet Med 2011 Jul;13(7):607-16

HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132-2140, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182136d32DOI Listing
July 2011

Molecular technologies open new clinical genetic vistas.

Sci Transl Med 2011 Jan;3(65):65ps2

Department of Obstetrics and Gynecology, Drexel University College of Medicine and Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19102, USA.

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http://dx.doi.org/10.1126/scitranslmed.3002064DOI Listing
January 2011

PAVM embolization: an update.

AJR Am J Roentgenol 2010 Oct;195(4):837-45

Department of Radiology, Division of Interventional Radiology, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.2214/AJR.10.5230DOI Listing
October 2010

Does use of coils in addition to amplatzer vascular plugs prevent recanalization?

AJR Am J Roentgenol 2010 Sep;195(3):766-71

Department of Radiology, Division of Vascular and Interventional Radiology, University of Pennsylvania Medical Center, 1 Silverstein, 3400 Spruce St., Philadelphia, PA 19104, USA.

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http://www.ajronline.org/doi/10.2214/AJR.09.3953
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http://dx.doi.org/10.2214/AJR.09.3953DOI Listing
September 2010

2009 Treatment guidelines for hereditary hemorrhagic telangiectasia.

J Vasc Interv Radiol 2010 Feb 21;21(2):179. Epub 2009 Dec 21.

Department of Radiology, Division of Interventional Radiology, University of Pennsylvania Medical Center, 1 Silverstein, 3400 Spruce St, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.jvir.2009.10.009DOI Listing
February 2010

Outpatient single-session pulmonary arteriovenous malformation embolization.

J Vasc Interv Radiol 2009 Oct 15;20(10):1287-91. Epub 2009 Aug 15.

Department of Radiology, Division of Interventional Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.jvir.2009.06.026DOI Listing
October 2009

Distress and burnout among genetic service providers.

Genet Med 2009 Jul;11(7):527-35

Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181a6a1c2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737383PMC
July 2009

Covered stent to treat pulmonary arteriovenous malformation with short feeding artery.

J Vasc Interv Radiol 2009 Jun 5;20(6):824-8. Epub 2009 May 5.

Department of Radiology, Division of Interventional Radiology, University of Pennsylvania Medical Center, 3400 Spruce Street, 1 Silverstein, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.jvir.2009.03.001DOI Listing
June 2009

Self-surveillance by adolescents and young adults transitioning to self-management of a chronic genetic disorder.

Health Educ Behav 2010 Feb 6;37(1):133-50. Epub 2009 Apr 6.

University of Pennsylvania, Philadelphia, 19104, USA.

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http://dx.doi.org/10.1177/1090198109331670DOI Listing
February 2010

Digital subtraction pulmonary arteriography versus multidetector CT in the detection of pulmonary arteriovenous malformations.

J Vasc Interv Radiol 2008 Nov 5;19(11):1582-8. Epub 2008 Sep 5.

Division of Interventional Radiology, Department of Radiology, University of Pennsylvania Medical Center, 3400 Spruce Street, 1 Silverstein, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1016/j.jvir.2008.07.011DOI Listing
November 2008

A small molecule for a large disease.

Authors:
Reed E Pyeritz

N Engl J Med 2008 Jun;358(26):2829-31

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http://dx.doi.org/10.1056/NEJMe0804008DOI Listing
June 2008

Marfan syndrome and related disorders.

Authors:
Reed E Pyeritz

Ann Thorac Surg 2008 Jul;86(1):335-6

Division of Medical Genetics, Hospital of the University of Pennsylvania, Maloney 538, 3400 Spruce St, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.athoracsur.2006.10.023DOI Listing
July 2008

Medical management of Marfan syndrome.

Circulation 2008 May;117(21):2802-13

Departments of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4283, USA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.107.693523DOI Listing
May 2008

Adolescents' transition to self-management of a chronic genetic disorder.

Qual Health Res 2008 Apr;18(4):441-57

University of Pennsylvania School of Nursing, Biobehavioral Research Center, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1177/1049732308314853DOI Listing
April 2008

Successful surgical management of acute type A aortic dissection associated with Crohn disease.

J Thorac Cardiovasc Surg 2007 Oct;134(4):1048-9

Cardiothoracic Section, Anesthesiology and Critical Care, University of Pennsylvania School of Medicine, Philadelphia, Pa 19104-4283, USA.

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http://dx.doi.org/10.1016/j.jtcvs.2007.05.048DOI Listing
October 2007

Abdominal visceral findings in patients with Marfan syndrome.

Genet Med 2007 Apr;9(4):208-12

Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4283, USA.

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http://dx.doi.org/10.1097/gim.0b013e3180423cb3DOI Listing
April 2007

Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy.

Am J Med Genet A 2007 Feb;143(4):377-81

Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, USA.

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February 2007