Bien-Willner GA - Search Results

1

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Smyk M, et al. Among authors: bien willner ga. Hum Genet. 2007 Aug;122(1):63-70. doi: 10.1007/s00439-007-0373-8. Epub 2007 May 15. Hum Genet. 2007. PMID: 17503084

2

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Velagaleti GV, et al. Am J Hum Genet. 2005 Apr;76(4):652-62. doi: 10.1086/429252. Epub 2005 Feb 22. Am J Hum Genet. 2005. PMID: 15726498 Free PMC article.

3

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.

Bien-Willner GA, Stankiewicz P, Lupski JR. Bien-Willner GA, et al. Hum Mol Genet. 2007 May 15;16(10):1143-56. doi: 10.1093/hmg/ddm061. Epub 2007 Apr 4. Hum Mol Genet. 2007. PMID: 17409199

4

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.

Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Leipoldt M, et al. Among authors: bien willner ga. Clin Genet. 2007 Jan;71(1):67-75. doi: 10.1111/j.1399-0004.2007.00736.x. Clin Genet. 2007. PMID: 17204049

5

Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.

Bien-Willner GA, Stankiewicz P, Lupski JR, Northup JK, Velagaleti GV. Bien-Willner GA, et al. Am J Hematol. 2005 Aug;79(4):309-13. doi: 10.1002/ajh.20366. Am J Hematol. 2005. PMID: 16044457 Free article.

6

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Yan J, et al. Among authors: bien willner ga. Am J Med Genet A. 2006 Jul 15;140(14):1531-41. doi: 10.1002/ajmg.a.31305. Am J Med Genet A. 2006. PMID: 16770807

7

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Shaw CJ, et al. Hum Genet. 2004 Jun;115(1):1-7. doi: 10.1007/s00439-004-1119-5. Epub 2004 Apr 20. Hum Genet. 2004. PMID: 15098121

8

Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.

Bien-Willner GA, López-Terrada D, Bhattacharjee MB, Patel KU, Stankiewicz P, Lupski JR, Pfeifer JD, Perry A. Bien-Willner GA, et al. Neuro Oncol. 2012 Jul;14(7):831-40. doi: 10.1093/neuonc/nos086. Epub 2012 May 9. Neuro Oncol. 2012. PMID: 22573308 Free PMC article.

9

CD163 immunohistochemistry is superior to CD68 in predicting outcome in classical Hodgkin lymphoma.

Klein JL, Nguyen TT, Bien-Willner GA, Chen L, Foyil KV, Bartlett NL, Duncavage EJ, Hassan A, Frater JL, Kreisel F. Klein JL, et al. Among authors: bien willner ga. Am J Clin Pathol. 2014 Mar;141(3):381-7. doi: 10.1309/AJCP61TLMXLSLJYS. Am J Clin Pathol. 2014. PMID: 24515766

10

Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors.

Bien-Willner GA, Mitra RD. Bien-Willner GA, et al. Acta Neuropathol Commun. 2014 Jul 17;2:74. doi: 10.1186/s40478-014-0074-1. Acta Neuropathol Commun. 2014. PMID: 25030029 Free PMC article.

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