140 Publications (Page 1 of 6)
2020
Arterial Elasticity in Ehlers-Danlos Syndromes
Miller, Amanda JSchubart, Jane RSheehan, TimothyBascom, Rebecca and Francomano, Clair A
Genes, vol. 11, (no. 1), pp. 55, 2020-01-04. | Journal Article
 
Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome
Miller, Amanda JStiles, Lauren ESheehan, TimothyBascom, RebeccaLevy, Howard PFrancomano, Clair A and Arnold, Amy C
Autonomic Neuroscience: Basic and Clinical, vol. 224, pp. 102637, March 2020. | Journal Article
 
Survey of Ehlers‒Danlos Patients’ ophthalmic surgery experiences
Louie, AnitaMeyerle, CatherineFrancomano, ClairSrikumaran, DivyaMerali, FarhanDoyle, Jefferson JBower, KraigBloom, LaraBoland, Michael VMahoney, NicholasDaoud, Yassine and Singman, Eric L
Molecular Genetics & Genomic Medicine, vol. 8, (no. 4), pp. n/a, April 2020. | Journal Article
2019
Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders
Mu, WeiyiMuriello, MichaelClemens, Julia LWang, YouSmith, Christy HTran, Phuong TRowe, Peter CFrancomano, Clair AKline, Antonie D and Bodurtha, Joann
American Journal of Medical Genetics Part A, vol. 179, (no. 4), pp. 569, April 2019. | Journal Article
 
Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization
Bascom, RebeccaSchubart, Jane RMills, SusanSmith, ThomasZukley, Linda MFrancomano, Clair A and McDonnell, Nazli
American Journal of Medical Genetics Part A, vol. 179, (no. 4), pp. 560, April 2019. | Journal Article
 
Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery
Schubart, Jane RSchaefer, EricJanicki, PiotrAdhikary, Sanjib DSchilling, AmberHakim, Alan JBascom, RebeccaFrancomano, Clair A and Raj, Satish R
Journal of Dental Anesthesia and Pain Medicine, vol. 19, (no. 5), pp. 270, 2019-00-00. | Journal Article
 
Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population
Schubart, Jane RSchaefer, EricHakim, Alan JFrancomano, Clair A and Bascom, Rebecca
Journal of Pain and Symptom Management, vol. 58, (no. 3), pp. 436, September 2019. | Journal Article
 
Use of prescription opioid and other drugs among a cohort of persons with Ehlers–Danlos syndrome: A retrospective study
Schubart, Jane RSchilling, AmberSchaefer, EricBascom, Rebecca and Francomano, Clair
American Journal of Medical Genetics Part A, vol. 179, (no. 3), pp. 403, March 2019. | Journal Article
2018
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
Blackburn, Patrick RXu, ZhiTumelty, Kathleen EZhao, Rose WMonis, William JHarris, Kimberly GGass, Jennifer MCousin, Margot ABoczek, Nicole JMitkov, Mario VCappel, Mark AFrancomano, Clair AParisi, Joseph EKlee, Eric WFaqeih, EissaAlkuraya, Fowzan SLayne, Matthew DMcDonnell, Nazli B and Atwal, Paldeep S
The American Journal of Human Genetics, vol. 102, (no. 4), pp. 705, 2018-04-05. | Journal Article
 
Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review
Joseph, Andrew WJoseph, Shannon SFrancomano, Clair A and Kontis, Theda C
JAMA Facial Plastic Surgery, vol. 20, (no. 1), pp. 75, 2018-01-01. | Journal Article
 
Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome
Roma, MariaMarden, Colleen LDe Wandele, IngeFrancomano, Clair A and Rowe, Peter C
Autonomic Neuroscience: Basic and Clinical, vol. 215, pp. 96, December 2018. | Journal Article
2017
Cover Image, Volume 175C, Number 1, March 2017
Tinkle, BradMalfait, FransiskaFrancomano, Clair and Byers, Peter
American journal of medical genetics. Part C, Seminars in medical genetics, vol. 175, (no. 1), pp. i, 2017-Mar. | Journal Article
 
Ehlers–Danlos syndrome, classical type
Bowen, Jessica MBowen, Jessica MSobey, Glenda JSobey, Glenda JBurrows, Nigel PBurrows, Nigel PColombi, MarinaColombi, MarinaLavallee, Mark ELavallee, Mark EMalfait, FransiskaMalfait, FransiskaFrancomano, Clair A and Francomano, Clair A
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, (no. 1), pp. 39, March 2017. | Journal Article
 
Pain management in the Ehlers–Danlos syndromes
Chopra, PradeepTinkle, BradHamonet, ClaudeBrock, IsabelleGompel, AnneBulbena, Antonio and Francomano, Clair
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, (no. 1), pp. 219, March 2017. | Journal Article
 
The 2017 International Classification of the Ehlers-Danlos Syndromes
Malfait, FransiskaMalfait, FransiskaFrancomano, ClairFrancomano, ClairByers, PeterByers, PeterBelmont, JohnBelmont, JohnBerglund, BrittaBerglund, BrittaBlack, JamesBlack, JamesBloom, LaraBloom, LaraBowen, Jessica MBowen, JessicaBrady, AngelaBrady, Angela FBurrows, NigelBurrows, Nigel PCastori, MarcoCastori, MarcoCohen, HelenCohen, HelenColombi, MarinaColombi, MarinaDemirdas, SerwetDemirdas, SerwetDe Backer, JulieDe Backer, JulieDe Paepe, AnneDe Paepe, AnneFournel-Gigleux, SylvieFournel-Gigleux, SylvieFrank, MichaelFrank, MichaelGhali, NeetiGhali, NeetiGiunta, CeciliaGiunta, CeciliaGrahame, RodneyGrahame, RodneyHakim, AlanHakim, AlanJeunemaitre, XavierJeunemaitre, XavierJohnson, DianaJohnson, DianaJuul-Kristensen, BirgitJuul-Kristensen, BirgitKapferer-Seebacher, InesKapferer-Seebacher, InesKazkaz, HanadiKazkaz, HanadiKosho, TomokiKosho, TomokiLavallee, MarkLavallee, Mark ELevy, HowardLevy, HowardMendoza-Londono, RobertoMendoza-Londono, RobertoPepin, MelaniePepin, MelaniePope, FPope, F MichaelReinstein, EyalReinstein, EyalRobert, LeemaRobert, LeemaRohrbach, MarianneRohrbach, MarianneSanders, LynnSanders, LynnSobey, Glenda JSobey, GlendaVan Damme, TimVan Damme, TimVandersteen, AnthonyVandersteen, AnthonyVan Mourik, Carolinevan Mourik, CarolineVoermans, NicolVoermans, NicolWheeldon, NigelWheeldon, NigelZschocke, JohannesZschocke, JohannesTinkle, Brad and Tinkle, Brad
2017. | Journal Article
 
The international consortium on the Ehlers–Danlos syndromes
Bloom, LaraBloom, LaraByers, PeterByers, PeterFrancomano, ClairFrancomano, ClairTinkle, BradTinkle, BradMalfait, Fransiska and Malfait, Fransiska
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, (no. 1), pp. 7, March 2017. | Journal Article
2014
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGFâ β expression and connective tissue features
Ganesh, SanthiMorissette, RachelXu, ZhiSchoenhoff, FlorianGriswold, BenjaminYang, JiandongTong, LanYang, Min‐leeHunker, KristinaSloper, LeslieKuo, ShinieRaza, RafiMilewicz, DiannaFrancomano, ClairDietz, HarryVan Eyk, Jennifer and McDonnell, Nazli
2014-08. | Journal Article
 
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features
Ganesh, Santhi KMorissette, RachelXu, ZhiSchoenhoff, FlorianGriswold, Benjamin FYang, JiandongTong, LanYang, Min‐LeeHunker, KristinaSloper, LeslieKuo, ShinieRaza, RafiMilewicz, Dianna MFrancomano, Clair ADietz, Harry CVan Eyk, Jennifer and McDonnell, Nazli B
The FASEB Journal, vol. 28, (no. 8), pp. 3324, August 2014. | Journal Article
2007
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue
Milhorat, Thomas HBolognese, Paolo ANishikawa, MisaoMcDonnell, Nazli B and Francomano, Clair A
Journal of neurosurgery. Spine, vol. 7, (no. 6), pp. 609, 2007-Dec. | Journal Article
2006
Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes
Mc Donnell, Nazli BMcDonnell, Nazli BGorman, Beverly LGorman, Beverly LMandel, Katherine WMandel, Katherine WSchurman, Shepherd HSchurman, Shepherd HAssanah-Carroll, AlisonAssanah‐Carroll, AlisonMayer, Susan AMayer, Susan ANajjar, Samer SNajjar, Samer SFrancomano, Clair A and Francomano, Clair A
American Journal of Medical Genetics Part A, vol. 140A, (no. 2), pp. 136, 15 January 2006. | Journal Article
2005
Complementary Medicine and Genetic Medicine: Polar Disciplines or Dynamic Partners?
Geller, GailGeller, GailFrancomano, Clair A and Francomano, Clair A
Journal of alternative and complementary medicine (New York, N.Y.), vol. 11, (no. 2), pp. 347, 2005-Apr. | Journal Article
 
Stickler syndrome: Clinical characteristics and diagnostic criteria
Rose, Peter SRose, Peter SLevy, Howard PLevy, Howard PLiberfarb, Ruth MLiberfarb, Ruth MDavis, JoieDavis, JoieSzymko-Bennett, Y.Szymko‐Bennett, YRubin, Benjamin IRubin, Benjamin ITsilou, EkateriniTsilou, EkateriniGriffith, Andrew JGriffith, Andrew JFrancomano, Clair A and Francomano, Clair A
American Journal of Medical Genetics Part A, vol. 138A, (no. 3), pp. 207, 15 October 2005. | Journal Article
2004
Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants
Zhang, ZijunMcCaffery, J. MichaelSpencer, Richard G. S and Francomano, Clair A
Journal of Anatomy, vol. 205, (no. 3), pp. 237, September 2004. | Journal Article
 
Klotho gene variation and expression in 20 inbred mouse strains
Bektas, ArsunBektas, ArsunSchurman, Shepherd HSchurman, ShepherdSharov, Alexei ASharov, AlexeiCarter, Mark GCarter, MarkDietz, Harry CDietz, HarryFrancomano, Clair A and Francomano, Clair
Mammalian Genome, vol. 15, (no. 10), pp. 767, 20041000. | Journal Article
 
Living with achondroplasia: Quality of life evaluation following cervico‐medullary decompression
Ho, Nicola CHo, Nicola CGuarnieri, MichaelGuarnieri, MichaelBrant, Larry JBrant, Larry JPark, Susan SPark, Susan SSun, BonnieSun, BonnieNorth, MarisaNorth, MarisaFrancomano, Clair AFrancomano, Clair ACarson, Benjamin S and Carson, Benjamin S
American Journal of Medical Genetics Part A, vol. 131A, (no. 2), pp. 167, 1 December 2004. | Journal Article