Clair A Francomano

Gastrointestinal medication burden among persons with the Ehlers-Danlos syndromes.

Authors:

Radha Dhingra Rebecca Bascom Elizabeth Thompson Clair A Francomano Jane R Schubart

Neurogastroenterol Motil 2021 Jan 3:e14077. Epub 2021 Jan 3.

Department of Public Health Sciences, Penn State Health Milton S Hershey Medical Center, Hershey, PA, USA.

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January 2021

Consensus clinical management guidelines for Alström syndrome.

Orphanet J Rare Dis 2020 09 21;15(1):253. Epub 2020 Sep 21.

Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.

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September 2020

Letter to the editor regarding "Atlantoaxial dislocation due to os odontoideum in patients with Down's syndrome: literature review and case reports".

Authors:

Fraser C Henderson Clair A Francomano Peter C Rowe

Childs Nerv Syst 2020 Sep 17. Epub 2020 Sep 17.

Department of Pediatrics, Johns Hopkins University School of Medicine, 200 N. Wolfe Street, #2077, Baltimore, MD, 21287, USA.

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September 2020

The Ehlers-Danlos syndromes.

Authors:

Fransiska Malfait Marco Castori Clair A Francomano Cecilia Giunta Tomoki Kosho Peter H Byers

Nat Rev Dis Primers 2020 07 30;6(1):64. Epub 2020 Jul 30.

Department of Pathology and Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.

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July 2020

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.

Authors:

Amanda J Miller Lauren E Stiles Timothy Sheehan Rebecca Bascom Howard P Levy Clair A Francomano Amy C Arnold

Auton Neurosci 2020 03 10;224:102637. Epub 2020 Jan 10.

Department of Neural and Behavioral Sciences, Penn State College of Medicine, Hershey, PA, USA; Autonomic Dysfunction Center and Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.

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March 2020

Arterial Elasticity in Ehlers-Danlos Syndromes.

Authors:

Amanda J Miller Jane R Schubart Timothy Sheehan Rebecca Bascom Clair A Francomano

Genes (Basel) 2020 01 4;11(1). Epub 2020 Jan 4.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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January 2020

Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery.

Authors:

Jane R Schubart Eric Schaefer Piotr Janicki Sanjib D Adhikary Amber Schilling Alan J Hakim Rebecca Bascom Clair A Francomano Satish R Raj

J Dent Anesth Pain Med 2019 Oct 30;19(5):261-270. Epub 2019 Oct 30.

Vanderbilt University Medical Center, Nashville, TN, USA.

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October 2019

Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population.

Authors:

Jane R Schubart Eric Schaefer Alan J Hakim Clair A Francomano Rebecca Bascom

J Pain Symptom Manage 2019 09 31;58(3):427-436. Epub 2019 May 31.

Department of Medicine, College of Medicine, The Pennsylvania State University, Hershey, Pennsylvania, USA.

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September 2019

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

Authors:

Rebecca Bascom Jane R Schubart Susan Mills Thomas Smith Linda M Zukley Clair A Francomano Nazli McDonnell

Am J Med Genet A 2019 04 1;179(4):552-560. Epub 2019 Feb 1.

National Institute on Aging Intramural Research Program, National Institutes of Health, Baltimore, Maryland.

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April 2019

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

Authors:

Weiyi Mu Michael Muriello Julia L Clemens You Wang Christy H Smith Phuong T Tran Peter C Rowe Clair A Francomano Antonie D Kline Joann Bodurtha

Am J Med Genet A 2019 04 31;179(4):561-569. Epub 2019 Jan 31.

Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

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April 2019

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Authors:

Patrick R Blackburn Zhi Xu Kathleen E Tumelty Rose W Zhao William J Monis Kimberly G Harris Jennifer M Gass Margot A Cousin Nicole J Boczek Mario V Mitkov Mark A Cappel Clair A Francomano Joseph E Parisi Eric W Klee Eissa Faqeih Fowzan S Alkuraya Matthew D Layne Nazli B McDonnell Paldeep S Atwal

Am J Hum Genet 2018 04 29;102(4):696-705. Epub 2018 Mar 29.

Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:

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April 2018

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

Authors:

Maria Roma Colleen L Marden Inge De Wandele Clair A Francomano Peter C Rowe

Auton Neurosci 2018 12 5;215:89-96. Epub 2018 Mar 5.

Department of Pediatrics, Johns Hopkins University School of Medicine, 200 N. Wolfe St., Room 2077, Baltimore, MD 21287, USA. Electronic address:

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December 2018

Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.

Authors:

Andrew W Joseph Shannon S Joseph Clair A Francomano Theda C Kontis

JAMA Facial Plast Surg 2018 Jan;20(1):70-75

Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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January 2018

Neurological and spinal manifestations of the Ehlers-Danlos syndromes.

Authors:

Fraser C Henderson Claudiu Austin Edward Benzel Paolo Bolognese Richard Ellenbogen Clair A Francomano Candace Ireton Petra Klinge Myles Koby Donlin Long Sunil Patel Eric L Singman Nicol C Voermans

Am J Med Genet C Semin Med Genet 2017 03 21;175(1):195-211. Epub 2017 Feb 21.

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March 2017

Ehlers-Danlos syndrome, classical type.

Authors:

Jessica M Bowen Glenda J Sobey Nigel P Burrows Marina Colombi Mark E Lavallee Fransiska Malfait Clair A Francomano

Am J Med Genet C Semin Med Genet 2017 03 13;175(1):27-39. Epub 2017 Feb 13.

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March 2017

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.

Authors:

Santhi K Ganesh Rachel Morissette Zhi Xu Florian Schoenhoff Benjamin F Griswold Jiandong Yang Lan Tong Min-Lee Yang Kristina Hunker Leslie Sloper Shinie Kuo Rafi Raza Dianna M Milewicz Clair A Francomano Harry C Dietz Jennifer Van Eyk Nazli B McDonnell

FASEB J 2014 Aug 14;28(8):3313-24. Epub 2014 Apr 14.

Laboratory of Clinical Investigation, National Institute on Aging, Baltimore, Maryland, USA;

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August 2014

Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale.

Authors:

Thomas H Milhorat Paolo A Bolognese Misao Nishikawa Clair A Francomano Nazli B McDonnell Chan Roonprapunt Roger W Kula

Surg Neurol 2009 Jul;72(1):20-35

Department of Neurosurgery, The Chiari Institute, Harvey Cushing Institutes of Neuroscience, North Shore-Long Island Jewish Health System, Manhasset, NY 11030, USA.

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July 2009

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.

Authors:

Thomas H Milhorat Paolo A Bolognese Misao Nishikawa Nazli B McDonnell Clair A Francomano

J Neurosurg Spine 2007 Dec;7(6):601-9

Department of Neurosurgery, The Chiari Institute, Harvey Cushing Institute of Neuroscience, North Shore-Long Island Jewish Health System, Manhasset, New York 11030, USA.

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December 2007

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes.

Authors:

Nazli B McDonnell Beverly L Gorman Katherine W Mandel Shepherd H Schurman Alison Assanah-Carroll Susan A Mayer Samer S Najjar Clair A Francomano

Am J Med Genet A 2006 Jan;140(2):129-36

Human Genetics and Integrative Medicine Section, Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA.

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January 2006

Stickler syndrome: clinical characteristics and diagnostic criteria.

Authors:

Peter S Rose Howard P Levy Ruth M Liberfarb Joie Davis Y Szymko-Bennett Benjamin I Rubin Ekaterini Tsilou Andrew J Griffith Clair A Francomano

Am J Med Genet A 2005 Oct;138A(3):199-207

Warren Magnuson Grant Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

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October 2005

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