ClairFrancomanoMD

PubMed

• 1453 citations
  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
  Harry C. Dietz, Carry R. Cutting, Reed E. Pyeritz, Cheryl L. Maslen, Lynn Y. Sakai
  Nature. 1991-07-25
• 150 citations
  Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome
  Douglas J. Wilkin, Jinny Szabo, Rhoda Cameron, Shirley Henderson, Gary A. Bellus
  American Journal of Human Genetics. 1998-09-01
• 14 citations
  Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes.
  Colin M E Halverson, Heather L Penwell, Clair A Francomano
  SSM. Qualitative Research in Health. 2023-06-01

Journal Articles

• Pain and Sleep Quality in Children with Non‐Vascular Ehlers–Danlos Syndromes  
  Antonie D Kline, Weiyi Mu, Peter C Rowe, Clair Francomano, Joann Bodurtha, American Journal of Medical Genetics Part A
• Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes  
  Andrew W. Joseph, Clair A. Francomano, Theda C. Kontis, JAMA
• Transposon-mediated engineering of human primary T cells for therapy of CD19+ lymphoid malignancies  
  Huang X, Guo H, Kang J, Choi S, Zhou TC, Tammana S, Lees CJ, Li ZZ, Milone M, Levine BL, Tolar J, June CH, McIvor RS, Wagner JE, Blazar BR, Zhou X, Mol Ther, 1/1/2008
• SEGS: Search for enriched gene sets in microarray data  
  Trajkovski I, Lavrac N, Tolar J, J Biomed Inform, 1/1/2008
• Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation  
  Polgreen LE, Tolar J, Plog M, Himes JH, Orchard PJ, Whitley CB, Miller BS, Petryk A, Bone Marrow Transplant, 1/1/2008
• Circulating anticoagulant glycosaminoglycans in mucopolysaccharidosis type I  
  Tolar J, Orchard PJ, Key NS, Blazar BR, J Throm Haemost, 1/1/2008
• Granulocyte colony-stimulating factor mobilized CFU-F can be found in the peripheral blood but have limited expansion potential  
  Lund TC, Tolar J, Orchard PJ, Haematologica, 1/1/2008
• Hematopoietic reconstitution by multipotent adult progenitor cells: precursors to long-term hematopoietic stem cells  
  Serafini M, Dylla SJ, Oki M, Heremans Y, Tolar J, Jiang Y, Buckley SM, Pelacho B, Burns TC, Frommer S, Rossi DJ, Bryder D, Panoskaltsis-Mortari A, O'Shaughnessy MJ, Ne..., J Exp Med, 1/1/2007
• The host immune response is essential for the beneficial effect of adult stem cells after myocardial ischemia  
  Tolar J, Wang X, Braunlin E, McElmurry RT, Nakamura Y, Bell S, Xia L, Zhang Jo, Hu Q, Panoskaltsis-Mortari A, Zhang J, Blazar BR, Exp Hematol, 1/1/2007
• Correction of DNA protein kinase deficiency by spliceosome-mediated RNA -splicing and transposon delivery  
  Zayed H, Xia L, Yerich A, Yant SR, Kay MA, Puttaraju M, McGarrity GJ, Wiest DL, McIvor RS, Tolar J, Blazar BR, Mol Ther, 1/1/2007
• Insights into the mechanism of FTY720 and compatibility with regulatory T cells for the inhibition of graft-versus-host disease (GVHD)  
  Taylor PA, Ehrhardt MJ, Lees CJ, Tolar J, Weigel BJ, Panoskaltsis-Mortari A, Serody JS, Brinkmann V, Blazar BR, Blood, 1/1/2007
• Hematopoietic cell therapy for metabolic disease  
  Orchard PJ, Blazar BR, Wagner J, Charnas L, Krivit W, Tolar J, J Pediatr, 1/1/2007
• Optimization of conditioning for marrow transplantation from unrelated donors for patients with aplastic anemia after failure of immunosuppressive therapy  
  Deeg HJ, O'Donnell M, Tolar J, Agarwal R, Harris RE, Feig SA, Territo MC, Collins RH, McSweeney PA, Copelan EA, Khan SP, Woolfrey A, Storer B, Blood, 1/1/2006
• Osteopetrosis Mechanisms of disease  
  Tolar J, Teitelbaum SL, Orchard PJ, N Engl J Med, 1/1/2004
• Transplacental and other routes of cancer transmission between individuals  
  Tolar J, Neglia JP, J Pediatr Hematol Oncol, 1/1/2003
• Transplacental transfer of small-cell carcinoma of the lung  
  Tolar J, Coad JE, Neglia JP, N Engl J Med, 1/1/2002
• Lymphoproliferative disorder presenting as pulmonary nodules after bone marrow transplantation  
  Tolar J, Coad JE, Ramsay NKC, Peters C, Davies SM, Bone Marrow Transplant, 1/1/2001
• Severe Hypodontia and Oral Xanthomas in Alagille Syndrome  
  Ho NC, Lacbawan F, Francomano CA, Ho V, Am J Med Genet, 1/1/2000
• Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry  
  Li, Z-Y., Jacobson, S.G. and Milam, A.H., Exp Eye Res, 1/1/1994
• Marfan syndrome: No evidence for heterogeneity in different populations, and more precise mapping of the gene  
  Kainulainen K, Steinmann B, Collins F, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock DJH, Keston M, Pyeritz RE, and Peltonen L, Am J Hum Genet, 1/1/1991
• An exclusion map of Marfan syndrome  
  Blanton SH, Sarfarazi M, Eiberg H, deGroot J, Farndon PA, Child AH, Pope FM, Peltonen L, Francomano CA, Boileau C, and Tsipouras P, Am J Med Genet, 1/1/1990
• Fragmentation in general surgery: The case of head and neck surgery Letter to the Editor  
  Cummings CW, Arch Surg, 1/1/1990
• Age: A clue in neck mass diagnosis  
  Cummings CW, Flint P, and Krause CJ, Patient Care, 1/1/1990
• Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa  
  Jacobson, S.G., Yagasaki, K., Feuer, W.J. and Roman, A., Exp Eye Res, 1/1/1989
• Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency  
  Kemp, C.M., Jacobson, S.G., Borruat, F-X. and Chaitin, M.H., Exp Eye Res, 1/1/1989
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Books/Book Chapters

• Mastery of Surgery 
  Chapter: Cardiovascular Risk Assessment and Perioperative Cardiac Monitoring. 
  Peeler BB, Kron ILLittle, Brown and CompanyEdition 4th,2005
• Otolaryngology-Head and Neck Surgery (4 volumes) 
  Cummings CWElsevier Publishing2004
• Connective Tissue and Its Heritable Disorders 
  Chapter: Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes 
  Page 917 - 946Francomano CA, Muenke MMEditors: Steinmann B and Royce P.Wiley-Liss, New York, NY2001
• Advances in the Pathogenesis of Polycystic Kidney Disease. 
  Chapter: Analysis of connective tissue genes in autosomal dominant polycystic kidney disease. 
  Page 27 - 31Francomano CA, Killen P, and Yamada YEditors: Carone FA and Dobbie JW.TP&T, Inc., Chicago, IL1990
• Human Achondroplasia: A Multidisciplinary Approach. 
  Chapter: Molecular genetic studies in achondroplasia. 
  Page 53 - 58Francomano CA, Le PL, and Pyeritz REEditors: Nicoletti B, Kopits SE, Ascani E and McKusick VA.Plenum Press, New York, NY1988
• Current Therapy in Otolaryngology Head and Neck Surgery 
  Chapter: The method of mandibular defects. 
  Page 239 - 242Cummings CWEditors: Gates G.B.C. Decker, Inc., Trenton1982
• Otolaryngology 
  Chapter: Oroantral fistulas: Etiology, diagnosis, and treatment. Chapter 31. 
  Page 1 - 7Potter BE, and Cummings CWEditors: English GM.Harper and Row, Hagerstown1979
• Complications of Head and Neck Surgery 
  Chapter: Complications of laryngeal and hypopharyngeal surgery. 
  Page 163 - 173Richtsmeier W, and Cummings CWEditors: Johns ME.B.C. Decker, Inc., Toronto, Canada
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Abstracts/Posters

• Hematopoietic cell transplantation (HCT) for recessive dystrophic epidermolysis bullosa (RDEB): reduced intensity conditioning (RIC) has a better outcome than myeloabl...
  Tolar J, McGrath JA, Osborn MJ, Keene DR, Hook K, Hordinsky M, Woodley D, Chen M, Hovnanian A, Tamai K, Blazar BR, Wagner JE, Society for Investigative Dermatology Annual Meeting, Atlanta, GA, 1/1/2015
• Lysyl hydroxylase 3 localizes to epidermal basement membrane and is reduced in patients with recessive dystrophic epidermolysis bullosa.
  Watt S, Dayal J, Wright S, Pourreyron C, McMillan J, Riddle M, McLean I, Leigh I, McGrath J, Salas-Alanis J, Tolar J, South AP, Society for Investigative Dermatology Annual Meeting, Atlanta, GA, 1/1/2015
• Hepatobiliary disease in hematopoietic stem cell transplantation patients.
  Skube M, Tolar J, Schwarzenberg S, DeFor T, Acton R, Hess D, Segura B, Saltzman D, American Pediatric Surgical Association Annual Meeting, Fort Lauderdale, FL, 1/1/2015
• Outcome of bone marrow transplantation in diskeratosis congenita: preliminary data from the European Group for Bone Marrow Transplantation.
  Fioredda F, Korthof L, Iacobelli S, Knol C, Tolar J, van Biezen A, Ziagkos D, Velken JH, Socie G, Veys P, Aljurf M, Or R, de la Fuente J, Bacigalupo A, Fisher A, Fagio..., 1st EBMT Congress, Istanbul, Turkey, 1/1/2015
• Prevalence and determinants of true thyroid dysfunction among pediatric referrals for abnormal thyroid function tests
  Lahoti A., Klein J., Schumaker T., Vuguin P., Frank G, NSLIJ Academic Competition; PES, Manhasset, NY; Vancouver, Canada, 1/7/2014
• An Interprofessional Quality Improvement Curriculum for Internal Medicine Residents and Masters of Public Health Students: The Lean Way
  Gupte, G., Suen, W., Sloan, K., Noronha, C, Association of University Programs in Health Administration Annual Meeting, San Antonio, TX, 1/1/2014
• Addison’s disease presenting as isolated mineralocorticoid deficiency in a child with type 1 diabetes mellitus.
  Lahoti A., Klein J., Speiser P., Frank G., Kreitzer P, ENDO Society; NSLIJ Academic Competition, San Francisco, CA; Manhasset, NY, 1/16/2013
• Genomics of Arteriovenous Fistula Maturation.
  Lee T, Chen J, Roy-Chaudhury P, Campos B, Medvedovic M, J Am Soc Nephrol, 1/1/2013
• Extensive cerebral sinus thrombosis following initiation of eltrombopag in patient with ITP.
  Mulla CM, Levitov AB, ACP Virginia Chapter's Associates' Program, Richmond, VA, 1/1/2013
• Bone marrow is the preferred graft for allogeneic hematopoietic stem cell transplantation in severe epidermolysis bullosa.
  Tolar J, McGrath JA, Osborn MJ, Hook KP, Keene DR, Hordinsky MK, Blazar BR, Wagner JE, Best Pediatric Abstracts. Biol Blood Marrow Transplant; BMT Tandem Meetings, Salt Lake City, UT, 1/1/2013
• Rh-PTH Therapy in an Older Patient With a Gain of Function Mutation of the Calcium Sensing Receptor-A Case Report.
  Gonzales M, Mulla C, Lieb D, Aloi J, Richardson D, O'Brian J, Khardori R, AACE Annual Scientific and Clinical Congress, Philadelphia, PA, 1/1/2012
• Improvement in Inpatient Glucometrics and Reduction in Hypoglycemic Events With Transition to Basal-Bolus Therapy and Intensive Diabetes Education of Health Care Provi...
  Gonzales M, Mulla C, McFarland R, Chidester P, Aloi J, AACE Annual Scientific and Clinical Congress, Philadelphia, PA, 1/1/2012
• Hematopoietic and mesenchymal stem cell transplantation for recessive dystrophic and junction epidermolysis bullosa.
  Tolar J, McGrath JA, Keene DR, Hordinsky M, Osborn MJ, Riddle MJ, Bertin AJ, Woodley D, Chen M, Hovnanian A, Tamai K, Blazar BR, Wagner JE, J Invest Dermatol; Society for Investigative Dermatology, Raleigh, NC, 1/1/2012
• Buccal swab specimens for IDUA genotype analysis for patients after hematopoietic stem cell transplantation.
  Cooksley RD, Shapiro E, Orchard P, Tolar J, Whitley CB, Mol Genet Metabol; Lysosomal Disease Network's WORLD Symposium, San Francisco, CA, 1/1/2012
• A Novel Model of Balloon Angioplasty Injury in Rat Arteriovenous Fistula
  Lee T, American Society of Nephrology Kidney Week, Philadelphia, PA, 1/14/2011
• Arteriovenous Fistula Remodeling in a Rat AVF Model
  Lee T, American Society of Nephrology Kidney Week, Philadelphia, PA, 1/14/2011
• Prolonged Cumulative Survival in Fistulas With Surgical Interventions to Promote Maturation Compared to Endovascular Interventions
  Lee T, American Society of Nephrology Renal Week, Philadelphia, PA, 1/11/2011
• Natural History of Venous Morphologic Changes in Dialysis Access Stenosis
  Lee T, American Society of Nephrology Kidney Week, Atlanta, GA, 1/7/2011
• Healthier Children Make Healthier Students:Rethinking Health Education in Boston Public Schools.
  Fleming, M, Barbara Huscher-Cohen Boston Public Schools, Department of Health and Wellness, Harvard School of Public Health, 1/1/2011
• Immune response to intrathecal enzyme therapy in Mucopolysaccharidosis I patients.
  Moin V, Le S, Garban H, Orchard P, Tolar J, Dickson P, Mol Genet Metabol; Lysosomal Disease Network's WORLD Symposium, Las Vegas, NV, 1/1/2011
• Recombinant Human Parathyroid Hormone Therapy in a Patient with a Gain-of-Function Mutation in the Calcium-Sensing Receptor
  Gonzales M, Mulla C, Lieb D, EVMS Research Day, Norfolk, VA, 1/1/2011
• Dyskeratosis Congenita: Evaluation of immune status and hematopoietic stem cell transplantation. A literature and EBMT database survey of 75 patients.
  Korthof ET, Van der Zalm J, Raphael MF, Bresters D, Tolar J, Aljurf M, Veys P, Oneto R, Bacigalupo A, Peters C, Gaspar B, Dufour C, Marsh JCW, Blood; American Society of Hematology Meeting, San Diego, CA, 1/1/2011
• Fludarabine-based conditioning for allogeneic marrow transplantation from unrelated donors in severe aplastic anemia (SAA): serious and unexpected adverse events in pr...
  Tolar J, Deeg J, Arai S, Horwitz M, Antin J, McCarty J, Adams R, Eapen M, Ewell M, Leifer E, Gersten I, Carter S, Horowitz M, Nakamura R, Pulsipher M, Murphy E, DiFron..., Blood; American Society of Hematology Meeting, San Diego, CA, 1/1/2011
• DNA methylation profile of Runx1 regulatory regions is correlated with transition from primitive to definitive hematopoietic potential in vitro and in vivo.
  Webber B, Iacovino M, Kyba M, Blazar BR, Tolar J, Blood; American Society of Hematology Meeting, San Diego, CA, 1/1/2011
• Cardiac valvular interstitial cells in MPS 1.
  Braunlin E, Tolar J, Orchard P, Mackey-Bojack S, Marsh T, Schoen FJ (EB and JT are co-first authors), Mol Genet Metabol; Lysosomal Disease Network WORLD Symposium, Miami, FL, 1/1/2010
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Lectures

• From Marrow to Matrix 
  Indiana University, Indianapolis, IN - 1/8/2015
• Blood and Marrow Transplantation for Severe EB 
  Nashville, TN - 1/30/2014
• The Creative Destruction of Genes 
  University of Minnesota - 1/29/2014
• Vascular Access Dysfunction: From Bench to Bedside. Visiting Professor 
  King Faisal Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia - 1/27/2014
• Rare Diseases-Academia, Industry, Patients & Support Groups. Panel Moderator 
  Minneapolis, MN - 1/27/2014
• Therapies for Vascular Access Dysfunction: Myth or Reality? 
  Las Vegas, NV - 1/24/2014
• Epidermolysis Bullosa Scoring System (iscorEB) 
  Denver, CO - 1/23/2014
• Molecular Surgery for Fanconi Anemia 
  Minneapolis, MN - 1/20/2014
• Fanconi Anemia Therapeutics: Past, Present, and Future 
  Washington, DC - 1/19/2014
• Understanding Your Genome. Panel Member 
  University of Minnesota, Minneapolis, MN - 1/19/2014
• Establishing the Minnesota Regenerative Medicine Research Institute (SF 1791) 
  St. Paul, MN - 1/18/2014
• DC-Specific Bone Marrow Transplantation: Less Toxicity, Better Outcomes 
  Sydney, Australia - 1/18/2014
• Gene and Cellular Therapy for Epidermolysis Bullosa: More than Skin Deep 
  University of Minnesota, Minneapolis, MN - 1/17/2014
• Gene Therapy for Fanconi Anemia: International Platform 
  Milan, Italy - 1/16/2014
• Stem Cell Gene Therapy for Fatal Genodermatosis 
  Minneapolis, MN - 1/16/2014
• Hemodialysis Vascular Access Dysfunction: Translating Insights from the Bench to the Bedside. 
  University of Alabama at Birmingham, AL - 1/15/2014
• Regenerative Medicine Congressional Briefing 
  Washington, DC - 1/12/2014
• Time to Abandon Routine Surveillance of Arteriovenous Access? 
  Philadelphia, PA - 1/11/2014
• Ideal and Support: Secret Sauce 
  Minneapolis, MN - 1/10/2014
• Transitional Care in CKD to ESRD 
  University of Alabama at Birmingham, AL - 1/10/2014
• UMN Regenerative Medicine: From Ideas to Clinical Practice 
  Minneapolis, MN - 1/8/2014
• Legacy of the Department of Pediatrics – Cell Therapies 
  Minneapolis, MN - 1/6/2014
• Patience and Fortitude 
  New York, NY - 1/6/2014
• EB Scoring System 
  Toronto, Canada - 1/6/2014
• Blood and Marrow Transplantation for Severe Recessive Dystrophic Epidermolysis Bullosa 
  Santiago, Chile - 1/5/2014
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Other

• Management of laryngeal paralysis. (2 – 60-minute Tapes) 
  Cummings CW, Costin R, Myers EA, and Ward P, AAO
  1/1/1983