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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med. 2024 Mar 7;26(6):101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print.
Genet Med. 2024.
PMID: 38465576
Free article.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network.
Akula SK, et al.
JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363.
JAMA Neurol. 2023.
PMID: 37486637
Free PMC article.
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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.
Holtz AM, Harrington AW, McNamara ER, Kielian A, Soul JS, Martinez-Ojeda M, Levy PT.
Holtz AM, et al. Among authors: martinez ojeda m.
Eur J Med Genet. 2020 Apr;63(4):103802. doi: 10.1016/j.ejmg.2019.103802. Epub 2019 Nov 5.
Eur J Med Genet. 2020.
PMID: 31698102
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB…
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Koczkowska M, et al. Among authors: martinez ojeda m.
Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26.
Hum Mutat. 2020.
PMID: 31595648
Free PMC article.
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Case of infantile onset spinocerebellar ataxia type 5.
Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS.
Jacob FD, et al. Among authors: martinez ojeda m.
J Child Neurol. 2013 Oct;28(10):1292-5. doi: 10.1177/0883073812454331. Epub 2012 Aug 21.
J Child Neurol. 2013.
PMID: 22914369
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[Diagnostic criteria for cervicovaginitis and its congruency with the Mexican official norm to prevent and control vaginal infections].
Martínez-Ojeda M, Saldaña-González J, Sánchez-Hernández MA.
Martínez-Ojeda M, et al.
Rev Med Inst Mex Seguro Soc. 2007 May-Jun;45(3):249-54.
Rev Med Inst Mex Seguro Soc. 2007.
PMID: 17692162
Spanish.
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