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Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.
Klammt J, Kobelt L, Aktas D, Durak I, Gokbuget A, Hughes Q, Irkec M, Kurtulus I, Lapi E, Mechoulam H, Mendoza-Londono R, Palumbo JS, Steitzer H, Tabbara KF, Ozbek Z, Pucci N, Sotomayor T, Sturm M, Drogies T, Ziegler M, Schuster V. Klammt J, et al. Thromb Haemost. 2011 Mar;105(3):454-60. doi: 10.1160/TH10-04-0216. Epub 2010 Dec 21. Thromb Haemost. 2011. PMID: 21174000
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG. Rosenfeld JA, et al. Eur J Hum Genet. 2011 May;19(5):547-54. doi: 10.1038/ejhg.2010.237. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248749 Free PMC article.
The Ehlers-Danlos syndromes, rare types.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. Brady AF, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306225 Review.
Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.
Saper VE, Ombrello MJ, Tremoulet AH, Montero-Martin G, Prahalad S, Canna S, Shimizu C, Deutsch G, Tan SY, Remmers EF, Monos D, Hahn T, Phadke OK, Cassidy E, Ferguson I, Mallajosyula V, Xu J, Rosa Duque JS, Chua GT, Ghosh D, Szymanski AM, Rubin D, Burns JC, Tian L, Fernandez-Vina MA, Mellins ED, Hollenbach JA; Drug Hypersensitivity Consortium; INCHARGE Consortium. Saper VE, et al. Ann Rheum Dis. 2022 Mar;81(3):406-415. doi: 10.1136/annrheumdis-2021-220578. Epub 2021 Nov 17. Ann Rheum Dis. 2022. PMID: 34789453 Free PMC article.
Borderline Lepromatous Leprosy: A Case to Remember.
Mussani F, Mendoza-Londono R, Lara-Corrales I. Mussani F, et al. J Cutan Med Surg. 2016 Mar-Apr;20(2):176-7. doi: 10.1177/1203475415611380. J Cutan Med Surg. 2016. PMID: 26888945 No abstract available.
106 results