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Page 1
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: rivera zengotita ml. Am J Hum Genet. 2021 Jun 3;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018. Am J Hum Genet. 2021. PMID: 34087166 Free PMC article. No abstract available.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: rivera zengotita ml. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
Intracranial myxoid mesenchymal neoplasms with EWSR1 gene rearrangement: report of 2 midline cases with one demonstrating durable response to MET inhibitor monotherapy.
De Los Santos Y, Shin D, Malnik S, Rivera-Zengotita M, Tran D, Ghiaseddin A, Lee Kresak J. De Los Santos Y, et al. Neurooncol Adv. 2021 Feb 4;3(1):vdab016. doi: 10.1093/noajnl/vdab016. eCollection 2021 Jan-Dec. Neurooncol Adv. 2021. PMID: 33738448 Free PMC article. No abstract available.
[No title available]
[No authors listed] [No authors listed] PMID: 33884378
[No title available]
[No authors listed] [No authors listed] PMID: 35844205
Brainstem angiocentric glioma: report of 2 cases.
Weaver KJ, Crawford LM, Bennett JA, Rivera-Zengotita ML, Pincus DW. Weaver KJ, et al. Among authors: rivera zengotita ml. J Neurosurg Pediatr. 2017 Oct;20(4):347-351. doi: 10.3171/2017.5.PEDS16402. Epub 2017 Jul 28. J Neurosurg Pediatr. 2017. PMID: 28753090
Gliosis versus glioma?: don't grade until you know.
Rivera-Zengotita M, Yachnis AT. Rivera-Zengotita M, et al. Adv Anat Pathol. 2012 Jul;19(4):239-49. doi: 10.1097/PAP.0b013e31825c6a04. Adv Anat Pathol. 2012. PMID: 22692287 Review.
17 results