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For: Kaufman CS, Butler MG. Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome. World J Med Genet 2016; 6(2): 17-21 [PMID: 28344932 DOI: 10.5496/wjmg.v6.i2.17]
URL: https://www.wjgnet.com/2220-3184/full/v6/i2/17.htm
Number Citing Articles
Paola Concolino, Alessandra Costella. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 GeneMolecular Diagnosis & Therapy 2018; 22(3): 261 doi: 10.1007/s40291-018-0319-y
Ian M. Clapp, Katlynn M. Paul, Edward C. Beck, Shane J. Nho. Hypermobile Disorders and Their Effects on the Hip JointFrontiers in Surgery 2021; 8 doi: 10.3389/fsurg.2021.596971
Krystal VanderJagt, Merlin G. Butler. Ehlers–Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencingArchives of Gynecology and Obstetrics 2019; 300(3): 491 doi: 10.1007/s00404-019-05226-5
Komal Preet, Methma Udawatta, Courtney Duong, Quinton Gopen, Isaac Yang. Bilateral Superior Semicircular Canal Dehiscence Associated with Ehlers-Danlos Syndrome: A Report of 2 CasesWorld Neurosurgery 2019; 122: 161 doi: 10.1016/j.wneu.2018.10.126
The Ehlers–Danlos SyndromesOsteopathic Family Physician 2020; 12(1): 26 doi: 10.33181/12013
Yinjie Gao, Lin Lu, Bingqing Yu, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu. The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase DeficiencyThe Journal of Clinical Endocrinology & Metabolism 2020; 105(7): 2288 doi: 10.1210/clinem/dgaa199
Vidyanand Anaparti, Prasoon Agarwal, Irene Smolik, Neeloffer Mookherjee, Hani El-Gabalawy. Whole Blood Targeted Bisulfite Sequencing and Differential Methylation in the C6ORF10 Gene of Patients with Rheumatoid ArthritisThe Journal of Rheumatology 2020; 47(11): 1614 doi: 10.3899/jrheum.190376
Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori. Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeGenes 2019; 10(12): 967 doi: 10.3390/genes10120967
Negin Yekkalam, Mehmed Novo, Anders Wänman. Treatments related to temporomandibular disorders among patients with prevalent types of Ehlers-Danlos syndrome in SwedenCRANIO® 2024; : 1 doi: 10.1080/08869634.2024.2319565
Cortney Gensemer, Randall Burks, Steven Kautz, Daniel P. Judge, Mark Lavallee, Russell A. Norris. Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causesDevelopmental Dynamics 2021; 250(3): 318 doi: 10.1002/dvdy.220
Olivia J. Veatch, Jacob Steinle, Waheeda A. Hossain, Merlin G. Butler. Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional studyBMC Medical Genomics 2022; 15(1) doi: 10.1186/s12920-022-01321-w
Anne Martin. An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos SyndromeEuropean Journal of Medical Genetics 2019; 62(7): 103672 doi: 10.1016/j.ejmg.2019.103672
A. Bauer, M. de Lucia, F. Leuthard, V. Jagannathan, T. Leeb. Compound heterozygosity for TNXB genetic variants in a mixed‐breed dog with Ehlers‐Danlos syndromeAnimal Genetics 2019; 50(5): 546 doi: 10.1111/age.12830
Talal M. Al‐Harbi, Haya Al‐Rammah, Naif Al‐Zahrani, Yichuan Liu, Patrick M. A. Sleiman, Walid Dridi, Hakon Hakonarson. Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB geneAmerican Journal of Medical Genetics Part A 2022; 188(2): 618 doi: 10.1002/ajmg.a.62539
Merlin G Butler. Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?World Journal of Cardiology 2020; 12(8): 368-372 doi: 10.4330/wjc.v12.i8.368