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37 results
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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS; Undiagnosed Diseases Network. Granadillo JL, et al. Am J Med Genet A. 2020 Nov 13. doi: 10.1002/ajmg.a.61962. Online ahead of print. Am J Med Genet A. 2020. PMID: 33184947
MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease In A Child Who Previously Underwent Liver Transplantation For PFIC-like Cholestasis.
Jarasvaraparn C, He M, Granadillo JL, Kulkarni S, Stoll J, Liss K. Jarasvaraparn C, et al. J Pediatr Gastroenterol Nutr. 2020 May 26. doi: 10.1097/MPG.0000000000002792. Online ahead of print. J Pediatr Gastroenterol Nutr. 2020. PMID: 32459745 No abstract available.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC. Singh S, et al. Genet Med. 2020 Aug;22(8):1413-1417. doi: 10.1038/s41436-020-0815-4. Epub 2020 May 5. Genet Med. 2020. PMID: 32366965 Free PMC article.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
Improved respiratory motion tracking through a novel fiducial marker placement guidance system during electromagnetic navigational bronchoscopy (ENB).
Stowe H, Ogake S, Sharma S, Kelly S, McDonald M, Stanley K, Walker P, Arastu H, Granadillo CA, Bowling M, Ju A. Stowe H, et al. Radiat Oncol. 2019 Jul 11;14(1):124. doi: 10.1186/s13014-019-1306-0. Radiat Oncol. 2019. PMID: 31296231 Free PMC article.
Impact on antitumor response using a new adjuvant preparation as a component of a human papillomavirus type 16 therapeutic vaccine candidate.
Granadillo M, Batte A, Alfonso AB, Blanco A, Urquiza D, Varas L, Soler D, Miyares M, Limonta M, Torrens I. Granadillo M, et al. Vaccine. 2019 Jul 9;37(30):3957-3960. doi: 10.1016/j.vaccine.2019.05.060. Epub 2019 May 30. Vaccine. 2019. PMID: 31155419
Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.
Bergeron D, Gorno-Tempini ML, Rabinovici GD, Santos-Santos MA, Seeley W, Miller BL, Pijnenburg Y, Keulen MA, Groot C, van Berckel BNM, van der Flier WM, Scheltens P, Rohrer JD, Warren JD, Schott JM, Fox NC, Sanchez-Valle R, Grau-Rivera O, Gelpi E, Seelaar H, Papma JM, van Swieten JC, Hodges JR, Leyton CE, Piguet O, Rogalski EJ, Mesulam MM, Koric L, Nora K, Pariente J, Dickerson B, Mackenzie IR, Hsiung GR, Belliard S, Irwin DJ, Wolk DA, Grossman M, Jones M, Harris J, Mann D, Snowden JS, Chrem-Mendez P, Calandri IL, Amengual AA, Miguet-Alfonsi C, Magnin E, Magnani G, Santangelo R, Deramecourt V, Pasquier F, Mattsson N, Nilsson C, Hansson O, Keith J, Masellis M, Black SE, Matías-Guiu JA, Cabrera-Martin MN, Paquet C, Dumurgier J, Teichmann M, Sarazin M, Bottlaender M, Dubois B, Rowe CC, Villemagne VL, Vandenberghe R, Granadillo E, Teng E, Mendez M, Meyer PT, Frings L, Lleó A, Blesa R, Fortea J, Seo SW, Diehl-Schmid J, Grimmer T, Frederiksen KS, Sánchez-Juan P, Chételat G, Jansen W, Bouchard RW, Laforce RJ, Visser PJ, Ossenkoppele R. Bergeron D, et al. Ann Neurol. 2018 Nov;84(5):729-740. doi: 10.1002/ana.25333. Ann Neurol. 2018. PMID: 30255971 Free PMC article.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302 Review.
Risk Factors for Repeat Debridement, Spacer Retention, Amputation, Arthrodesis, and Mortality After Removal of an Infected Total Knee Arthroplasty With Spacer Placement.
Cancienne JM, Granadillo VA, Patel KJ, Werner BC, Browne JA. Cancienne JM, et al. J Arthroplasty. 2018 Feb;33(2):515-520. doi: 10.1016/j.arth.2017.08.037. Epub 2017 Sep 5. J Arthroplasty. 2018. PMID: 28958659
Expression optimization of a cell membrane-penetrating human papillomavirus type 16 therapeutic vaccine candidate in Nicotiana benthamiana.
Yanez RJR, Lamprecht R, Granadillo M, Weber B, Torrens I, Rybicki EP, Hitzeroth II. Yanez RJR, et al. PLoS One. 2017 Aug 11;12(8):e0183177. doi: 10.1371/journal.pone.0183177. eCollection 2017. PLoS One. 2017. PMID: 28800364 Free PMC article.
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