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A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.
Epilepsy Behav. 2018 Apr;81:55-61. doi: 10.1016/j.yebeh.2017.12.008. Epub 2018 Mar 20.
Epilepsy Behav. 2018.
PMID: 29477837
Free article.
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A.
Ho KS, et al. Among authors: lortz a.
J Med Genet. 2016 Apr;53(4):256-63. doi: 10.1136/jmedgenet-2015-103626. Epub 2016 Jan 8.
J Med Genet. 2016.
PMID: 26747863
Free PMC article.
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Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.
Battaglia A, Calhoun ARUL, Lortz A, Carey JC.
Battaglia A, et al. Among authors: lortz a.
Am J Med Genet A. 2018 Nov;176(11):2389-2394. doi: 10.1002/ajmg.a.40469. Epub 2018 Oct 5.
Am J Med Genet A. 2018.
PMID: 30289612
Review.
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International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group; Douglas D, Lapunzina P.
Nevado J, et al. Among authors: lortz a.
Am J Med Genet A. 2020 Jan;182(1):257-267. doi: 10.1002/ajmg.a.61406. Epub 2019 Nov 25.
Am J Med Genet A. 2020.
PMID: 31769173
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Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.
Battaglia A, Lortz A, Carey JC.
Battaglia A, et al. Among authors: lortz a.
Am J Med Genet A. 2021 Jun;185(6):1794-1802. doi: 10.1002/ajmg.a.62176. Epub 2021 Mar 24.
Am J Med Genet A. 2021.
PMID: 33760347
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Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.
Carey JC, Lortz A, Mendel A, Battaglia A.
Carey JC, et al. Among authors: lortz a.
Am J Med Genet A. 2021 Jul;185(7):2065-2069. doi: 10.1002/ajmg.a.62220. Epub 2021 May 5.
Am J Med Genet A. 2021.
PMID: 33949758
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Academia, advocacy, and industry: a collaborative method for clinical research advancement.
Vanzo RJ, Lortz A, Calhoun AR, Carey JC.
Vanzo RJ, et al. Among authors: lortz a.
Am J Med Genet A. 2014 Jul;164A(7):1619-21. doi: 10.1002/ajmg.a.36509. Epub 2014 Apr 3.
Am J Med Genet A. 2014.
PMID: 24700599
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