Shago M - Search Results

1

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

Goh ES, Banwell B, Stavropoulos DJ, Shago M, Yoon G. Goh ES, et al. Among authors: shago m. Am J Med Genet A. 2014 Mar;164A(3):748-52. doi: 10.1002/ajmg.a.36322. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357149

2

An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.

Shago M, Sgro M, Barozzino T, Antinucci D, Chakraborty P, Chitayat D, Teshima I. Shago M, et al. Am J Med Genet. 2002 Dec 1;113(3):279-85. doi: 10.1002/ajmg.10789. Am J Med Genet. 2002. PMID: 12439897

3

13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.

Costain G, Silversides CK, Marshall CR, Shago M, Costain N, Bassett AS. Costain G, et al. Among authors: shago m. Int J Cardiol. 2011 Jan 21;146(2):134-9. doi: 10.1016/j.ijcard.2010.05.070. Epub 2010 Jul 3. Int J Cardiol. 2011. PMID: 20598760 Free PMC article. Review.

4

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D. Shlien A, et al. Among authors: shago m. Am J Hum Genet. 2010 Nov 12;87(5):631-42. doi: 10.1016/j.ajhg.2010.10.007. Am J Hum Genet. 2010. PMID: 21056402 Free PMC article.

5

Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.

Ghai SJ, Shago M, Shroff M, Yoon G. Ghai SJ, et al. Among authors: shago m. Eur J Med Genet. 2011 May-Jun;54(3):272-6. doi: 10.1016/j.ejmg.2011.02.008. Epub 2011 Mar 2. Eur J Med Genet. 2011. PMID: 21376145

6

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Goh ES, et al. Among authors: shago m. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639462

7

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Uddin M, et al. Among authors: shago m. Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663. Sci Rep. 2016. PMID: 27363808 Free PMC article.

8

Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group.

Carroll AJ, Shago M, Mikhail FM, Raimondi SC, Hirsch BA, Loh ML, Raetz EA, Borowitz MJ, Wood BL, Maloney KW, Mattano LA Jr, Larsen EC, Gastier-Foster J, Stonerock E, Ell D, Kahwash S, Devidas M, Harvey RC, Chen IL, Willman CL, Hunger SP, Winick NJ, Carroll WL, Rao KW, Heerema NA. Carroll AJ, et al. Among authors: shago m. Cancer Genet. 2019 Oct;238:62-68. doi: 10.1016/j.cancergen.2019.07.009. Epub 2019 Jul 30. Cancer Genet. 2019. PMID: 31425927 Free PMC article.

9

Genome assembly comparison identifies structural variants in the human genome.

Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L. Khaja R, et al. Among authors: shago m. Nat Genet. 2006 Dec;38(12):1413-8. doi: 10.1038/ng1921. Epub 2006 Nov 22. Nat Genet. 2006. PMID: 17115057 Free PMC article.

10

Characterization of trisomy 8 in pediatric undifferentiated sarcomas using advanced molecular cytogenetic techniques.

Selvarajah S, Yoshimoto M, Prasad M, Shago M, Squire JA, Zielenska M, Somers GR. Selvarajah S, et al. Among authors: shago m. Cancer Genet Cytogenet. 2007 Apr 1;174(1):35-41. doi: 10.1016/j.cancergencyto.2006.11.011. Cancer Genet Cytogenet. 2007. PMID: 17350464

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