Amarillo IE - Search Results

1

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.

Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. Amarillo IE, et al. Am J Med Genet A. 2014 Apr;164A(4):958-65. doi: 10.1002/ajmg.a.36393. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459036

2

Atypical rearrangement involving 3'-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression.

Amarillo I, Bui PH, Kantarci S, Rao N, Shackley BS, García R, Tirado CA. Amarillo I, et al. Mol Cytogenet. 2013 Feb 1;6(1):5. doi: 10.1186/1755-8166-6-5. Mol Cytogenet. 2013. PMID: 23369149 Free PMC article.

3

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.

Amarillo IE, Dipple KM, Quintero-Rivera F. Amarillo IE, et al. Am J Med Genet A. 2013 May;161A(5):1167-72. doi: 10.1002/ajmg.a.35847. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532965

4

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Kopp N, Amarillo I, Martinez-Agosto J, Quintero-Rivera F. Kopp N, et al. Am J Med Genet A. 2021 Mar;185(3):894-900. doi: 10.1002/ajmg.a.62025. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369065

5

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.

Amarillo IE, O'Connor S, Lee CK, Willing M, Wambach JA. Amarillo IE, et al. Am J Med Genet A. 2015 Dec;167A(12):2966-74. doi: 10.1002/ajmg.a.37296. Epub 2015 Aug 19. Am J Med Genet A. 2015. PMID: 26768185 Free PMC article. Review.

6

Rare and de novo duplications containing SHOX in clubfoot.

Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA. Sadler B, et al. J Med Genet. 2020 Dec;57(12):851-857. doi: 10.1136/jmedgenet-2020-106842. Epub 2020 Jun 9. J Med Genet. 2020. PMID: 32518174 Free PMC article.

7

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Sadler B, et al. J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25. J Med Genet. 2019. PMID: 30803986 Free PMC article.

8

Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.

Zhang SQ, Fleischer J, Al-Kateb H, Mito Y, Amarillo I, Shinawi M. Zhang SQ, et al. Eur J Med Genet. 2020 Mar;63(3):103736. doi: 10.1016/j.ejmg.2019.103736. Epub 2019 Aug 15. Eur J Med Genet. 2020. PMID: 31422286

9

Words matter: The language of difference in human genetics.

Cho MK, Duque Lasio ML, Amarillo I, Mintz KT, Bennett RL, Brothers KB. Cho MK, et al. Genet Med. 2023 Mar;25(3):100343. doi: 10.1016/j.gim.2022.11.011. Epub 2022 Dec 15. Genet Med. 2023. PMID: 36524987 Free PMC article.

10

Solid tumor cytogenetics: current perspectives.

Nanjangud G, Amarillo I, Rao PN. Nanjangud G, et al. Clin Lab Med. 2011 Dec;31(4):785-811, xi. doi: 10.1016/j.cll.2011.07.007. Epub 2011 Oct 21. Clin Lab Med. 2011. PMID: 22118748 Review.

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