Micale MA - Search Results

1

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Snape K, et al. Among authors: micale ma. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552266 Free PMC article.

2

Mosaic variegated aneuploidy without microcephaly: implications for cytogenetic diagnosis.

Micale MA, Schran D, Emch S, Kurczynski TW, Rahman N, Van Dyke DL. Micale MA, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1890-3. doi: 10.1002/ajmg.a.31848. Am J Med Genet A. 2007. PMID: 17632782

3

Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.

Micale MA, Embrey B 4th, Macknis JK, Harper CE, Aughton DJ. Micale MA, et al. Eur J Med Genet. 2016 Dec;59(12):618-623. doi: 10.1016/j.ejmg.2016.10.010. Epub 2016 Oct 27. Eur J Med Genet. 2016. PMID: 27794475

4

Parental origin of De Novo chromosome 9 deletions in del(9p) syndrome.

Micale MA, Haren JM, Conroy JM, Crowe CA, Schwartz S. Micale MA, et al. Am J Med Genet. 1995 May 22;57(1):79-81. doi: 10.1002/ajmg.1320570118. Am J Med Genet. 1995. PMID: 7645605

5

Cytogenetic and molecular genetic characterization of trisomy 20 mosaicism in fetal blood and tissues.

Micale MA, Wolff DJ, Dickerman LH, Redline R, Conroy JM, Schwartz S. Micale MA, et al. Prenat Diagn. 1996 Oct;16(10):893-7. doi: 10.1002/(SICI)1097-0223(199610)16:10<893::AID-PD962>3.0.CO;2-M. Prenat Diagn. 1996. PMID: 8938057

6

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.

Seeley AH, Durham MA, Micale MA, Wesolowski J, Foerster BR, Martin DM. Seeley AH, et al. Among authors: micale ma. Am J Med Genet A. 2014 Aug;164A(8):2062-8. doi: 10.1002/ajmg.a.36569. Epub 2014 Apr 9. Am J Med Genet A. 2014. PMID: 24719385 Free PMC article.

7

Fluorescence in situ hybridization analysis on cytologic smears: An accurate and efficient method in the diagnosis of melanotic Xp11 translocation renal cancer.

Gupta A, Micale M, Bernacki KD. Gupta A, et al. Diagn Cytopathol. 2018 Sep;46(9):786-789. doi: 10.1002/dc.23961. Epub 2018 May 3. Diagn Cytopathol. 2018. PMID: 29722173

8

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. Christ LA, et al. Among authors: micale ma. Am J Hum Genet. 1999 Nov;65(5):1387-95. doi: 10.1086/302606. Am J Hum Genet. 1999. PMID: 10521304 Free PMC article.

9

Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies.

Micale M, Embrey B 4th, Hubbell K, Beaudry-Rogers K, Whitten A. Micale M, et al. Clin Case Rep. 2017 May 10;5(6):993-999. doi: 10.1002/ccr3.982. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588853 Free PMC article.

10

Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.

Ysunza A, Shaheen K, Aughton DJ, Micale MA, Merson R, Rutkowski K. Ysunza A, et al. Among authors: micale ma. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1601-5. doi: 10.1016/j.ijporl.2013.06.007. Epub 2013 Jun 29. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23815883 Review.

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