Lee J - Search Results

1

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.

Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ. Purandare SM, et al. Among authors: lee j, lee b. Am J Med Genet A. 2008 Feb 15;146A(4):453-8. doi: 10.1002/ajmg.a.31750. Am J Med Genet A. 2008. PMID: 18203189 Free PMC article.

2

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.

Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY. Zhang H, et al. Among authors: lee jy. Am J Med Genet A. 2011 Jun;155A(6):1374-8. doi: 10.1002/ajmg.a.33769. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567906

3

Ring chromosome 9 [r(9)(p24q34)]: a report of two cases.

Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, Li S. Purandare SM, et al. Among authors: lee j. Am J Med Genet A. 2005 Oct 15;138A(3):229-35. doi: 10.1002/ajmg.a.30382. Am J Med Genet A. 2005. PMID: 16158426

4

A possible 5'-NRIP1/UHRF1-3' fusion gene detected by array CGH analysis in a Ph+ ALL patient.

Zhang R, Kim YM, Yang X, Li Y, Li S, Lee JY. Zhang R, et al. Cancer Genet. 2011 Dec;204(12):687-91. doi: 10.1016/j.cancergen.2011.11.006. Cancer Genet. 2011. PMID: 22285022

5

Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH.

Lee J, Stanley JR, Vaz SA, Mulvihill JJ, Wilson P, Hopcus-Niccum D, Li S. Lee J, et al. Am J Med Genet A. 2005 Jan 15;132A(2):206-8. doi: 10.1002/ajmg.a.30449. Am J Med Genet A. 2005. PMID: 15578618

6

A variant t(8;10;21) in a patient with pathological features mimicking atypical chronic myeloid leukemia.

Lee J, Kern WF, Cain JB, Mulvihill JJ, Li S. Lee J, et al. Cancer Genet Cytogenet. 2005 May;159(1):79-83. doi: 10.1016/j.cancergencyto.2004.10.002. Cancer Genet Cytogenet. 2005. PMID: 15860363

7

Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma.

Lee J, Hopcus-Niccum DJ, Mulvihill JJ, Li S. Lee J, et al. Cancer Genet Cytogenet. 2005 Jun;159(2):177-80. doi: 10.1016/j.cancergencyto.2004.11.003. Cancer Genet Cytogenet. 2005. PMID: 15899394

8

Trisomy 1q in a patient with severe aplastic anemia.

Angelidis P, Kojouri K, Lee J, Kern W, Mulvihill JJ, Li S. Angelidis P, et al. Among authors: lee j. Cancer Genet Cytogenet. 2006 Aug;169(1):73-5. doi: 10.1016/j.cancergencyto.2006.03.014. Cancer Genet Cytogenet. 2006. PMID: 16875941

9

A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0).

Lee J, Lu X, Shin ES, Kern WF, Mulvihill JJ, Li S. Lee J, et al. Cancer Genet Cytogenet. 2008 Feb;181(1):36-9. doi: 10.1016/j.cancergencyto.2007.10.012. Cancer Genet Cytogenet. 2008. PMID: 18262051

10

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. Hassed SJ, et al. Among authors: lee jy. Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005. Am J Hum Genet. 2012. PMID: 22883147 Free PMC article.

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