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Items: 1 to 50 of 65

1.

Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.

Guerreiro Stucklin AS, Ryall S, Fukuoka K, Zapotocky M, Lassaletta A, Li C, Bridge T, Kim B, Arnoldo A, Kowalski PE, Zhong Y, Johnson M, Li C, Ramani AK, Siddaway R, Nobre LF, de Antonellis P, Dunham C, Cheng S, Boué DR, Finlay JL, Coven SL, de Prada I, Perez-Somarriba M, Faria CC, Grotzer MA, Rushing E, Sumerauer D, Zamecnik J, Krskova L, Garcia Ariza M, Cruz O, Morales La Madrid A, Solano P, Terashima K, Nakano Y, Ichimura K, Nagane M, Sakamoto H, Gil-da-Costa MJ, Silva R, Johnston DL, Michaud J, Wilson B, van Landeghem FKH, Oviedo A, McNeely PD, Crooks B, Fried I, Zhukova N, Hansford JR, Nageswararao A, Garzia L, Shago M, Brudno M, Irwin MS, Bartels U, Ramaswamy V, Bouffet E, Taylor MD, Tabori U, Hawkins C.

Nat Commun. 2019 Sep 25;10(1):4343. doi: 10.1038/s41467-019-12187-5.

2.

Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors.

Dickson BC, Chung CT, Hurlbut DJ, Marrano P, Shago M, Sung YS, Swanson D, Zhang L, Antonescu CR.

Genes Chromosomes Cancer. 2019 Aug 21. doi: 10.1002/gcc.22803. [Epub ahead of print]

PMID:
31433528
3.

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.

Cancer Genet. 2019 Oct;238:62-68. doi: 10.1016/j.cancergen.2019.07.009. Epub 2019 Jul 30.

PMID:
31425927
4.

An aggressive central giant cell granuloma in a pediatric patient: case report and review of literature.

Wang Y, Le A, El Demellawy D, Shago M, Odell M, Johnson-Obaseki S.

J Otolaryngol Head Neck Surg. 2019 Jul 18;48(1):32. doi: 10.1186/s40463-019-0356-5.

5.

Immunohistochemistry for ATRX Can Miss ATRX Mutations: Lessons From Neuroblastoma.

Chami R, Marrano P, Teerapakpinyo C, Arnoldo A, Shago M, Shuangshoti S, Thorner PS.

Am J Surg Pathol. 2019 Sep;43(9):1203-1211. doi: 10.1097/PAS.0000000000001322.

PMID:
31290759
6.

MYCN Amplified Relapse Following Resolution of MYCN Nonamplified 4S Neuroblastoma With Placental Involvement: A Case Report and Review of the Literature.

Langenberg-Ververgaert KPS, Renzi S, Chung CT, Shago M, Lo W, Davidson S, Villani A, Baruchel S, Irwin MS, Morgenstern DA.

J Pediatr Hematol Oncol. 2019 Jul;41(5):388-391. doi: 10.1097/MPH.0000000000001515.

PMID:
31094905
7.

Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis.

Renzi S, Langenberg-Ververgaert K, Fuligni F, Ryan AL, Davidson S, Anderson N, Hayes R, Hopyan S, Gerstle JT, Shago M, Chami R, Malkin D, Shlien A, Villani A, Gupta AA.

Pediatr Hematol Oncol. 2018 Oct - Nov;35(7-8):407-414. doi: 10.1080/08880018.2019.1569185. Epub 2019 Feb 26.

PMID:
30806137
8.

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.

Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D, Behjati S, Shlien A.

Science. 2018 Aug 31;361(6405). pii: eaam8419. doi: 10.1126/science.aam8419.

9.

Clinicopathologic Features of a Series of Primary Renal CIC-rearranged Sarcomas With Comprehensive Molecular Analysis.

Mangray S, Kelly DR, LeGuellec S, Fridman E, Aggarwal S, Shago M, Matoso A, Madison R, Pramanik S, Zhong S, Li R, Lombardo KA, Cramer S, Pressey J, Ross JS, Corona RJ, Bratslavsky G, Argani P, Coindre JM, Somers GR, Ali SM, Yakirevich E.

Am J Surg Pathol. 2018 Oct;42(10):1360-1369. doi: 10.1097/PAS.0000000000001098.

PMID:
29901569
10.

Fluorescent In Situ Hybridization for TP53 in the Diagnosis of Pediatric Osteogenic Sarcoma.

Marrano P, Shago M, Somers GR, Thorner PS.

Am J Surg Pathol. 2018 Jun;42(6):744-749. doi: 10.1097/PAS.0000000000001054.

PMID:
29543677
11.

Multiplex Detection of Pediatric Low-Grade Glioma Signature Fusion Transcripts and Duplications Using the NanoString nCounter System.

Ryall S, Arnoldo A, Krishnatry R, Mistry M, Khor K, Sheth J, Ling C, Leung S, Zapotocky M, Guerreiro Stucklin A, Lassaletta A, Shago M, Tabori U, Hawkins CE.

J Neuropathol Exp Neurol. 2017 Jul 1;76(7):562-570. doi: 10.1093/jnen/nlx042.

PMID:
28863456
12.

The clinical impact of copy number variants in inherited bone marrow failure syndromes.

Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y.

NPJ Genom Med. 2017 May 10;2. pii: 18. doi: 10.1038/s41525-017-0019-2.

13.

Recurrent Cytogenetic Abnormalities in Acute Lymphoblastic Leukemia.

Shago M.

Methods Mol Biol. 2017;1541:257-278. Review.

PMID:
27910029
14.

Chromosome Preparation for Acute Lymphoblastic Leukemia.

Shago M.

Methods Mol Biol. 2017;1541:19-31.

PMID:
27910011
15.

TFE3-positive renal cell carcinomas are not always Xp11 translocation carcinomas: Report of a case with a TPM3-ALK translocation.

Thorner PS, Shago M, Marrano P, Shaikh F, Somers GR.

Pathol Res Pract. 2016 Oct;212(10):937-942. doi: 10.1016/j.prp.2016.07.004. Epub 2016 Jul 12.

PMID:
27450657
16.

Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion.

Shago M, Abla O, Hitzler J, Weitzman S, Abdelhaleem M.

Pediatr Blood Cancer. 2016 Nov;63(11):1915-21. doi: 10.1002/pbc.26116. Epub 2016 Jul 8.

PMID:
27392123
17.

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.

Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663.

18.

Primary Undifferentiated Sarcoma of the Kidney Harboring a Novel Variant of CIC-DUX4 Gene Fusion.

Mangray S, Somers GR, He J, Zhong S, Shago M, Treaba DO, Lombardo KA, Ali SM, Yakirevich E.

Am J Surg Pathol. 2016 Sep;40(9):1298-301. doi: 10.1097/PAS.0000000000000688. No abstract available.

PMID:
27340751
19.

TFE3-Expressing Perivascular Epithelioid Cell Neoplasm (PEComa) of the Sella Turcica.

Hyrcza MD, Winer DA, Shago M, Au K, Zadeh G, Asa SL, Mete O.

Endocr Pathol. 2017 Mar;28(1):22-26. doi: 10.1007/s12022-016-9434-7.

PMID:
27189222
20.

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y.

J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4.

PMID:
26342108
21.

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.

Cada M, Segbefia CI, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey V, Jardine L, Goodyear L, Sung L, Shago M, Beyene J, Sharma P, Zlateska B, Dror Y.

Haematologica. 2015 May;100(5):633-42. doi: 10.3324/haematol.2014.117457. Epub 2015 Feb 14.

22.

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.

Mistry M, Zhukova N, Merico D, Rakopoulos P, Krishnatry R, Shago M, Stavropoulos J, Alon N, Pole JD, Ray PN, Navickiene V, Mangerel J, Remke M, Buczkowicz P, Ramaswamy V, Guerreiro Stucklin A, Li M, Young EJ, Zhang C, Castelo-Branco P, Bakry D, Laughlin S, Shlien A, Chan J, Ligon KL, Rutka JT, Dirks PB, Taylor MD, Greenberg M, Malkin D, Huang A, Bouffet E, Hawkins CE, Tabori U.

J Clin Oncol. 2015 Mar 20;33(9):1015-22. doi: 10.1200/JCO.2014.58.3922. Epub 2015 Feb 9.

23.

CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity.

Spence T, Sin-Chan P, Picard D, Barszczyk M, Hoss K, Lu M, Kim SK, Ra YS, Nakamura H, Fangusaro J, Hwang E, Kiehna E, Toledano H, Wang Y, Shi Q, Johnston D, Michaud J, La Spina M, Buccoliero AM, Adamek D, Camelo-Piragua S, Peter Collins V, Jones C, Kabbara N, Jurdi N, Varlet P, Perry A, Scharnhorst D, Fan X, Muraszko KM, Eberhart CG, Ng HK, Gururangan S, Van Meter T, Remke M, Lafay-Cousin L, Chan JA, Sirachainan N, Pomeroy SL, Clifford SC, Gajjar A, Shago M, Halliday W, Taylor MD, Grundy R, Lau CC, Phillips J, Bouffet E, Dirks PB, Hawkins CE, Huang A.

Acta Neuropathol. 2014 Aug;128(2):291-303. doi: 10.1007/s00401-014-1291-1. Epub 2014 May 20.

24.

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.

Am J Med Genet A. 2014 Mar;164A(3):748-52. doi: 10.1002/ajmg.a.36322. Epub 2013 Dec 19.

PMID:
24357149
25.

Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach.

Kilday JP, Bartels U, Huang A, Barron M, Shago M, Mistry M, Zhukova N, Laperriere N, Dirks P, Hawkins C, Bouffet E, Tabori U.

J Neurooncol. 2014 Jan;116(1):195-204. doi: 10.1007/s11060-013-1284-2. Epub 2013 Nov 12.

PMID:
24218181
26.

Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child.

Dimaras H, Parulekar MV, Kwok G, Simpson ER, Ali A, Halliday W, Shago M, Harbour JW, Héon E, Gallie BL, Chan HS.

Br J Ophthalmol. 2013 Mar;97(3):323-6. doi: 10.1136/bjophthalmol-2012-302561. Epub 2013 Jan 3.

27.

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Baradaran-Heravi A, Raams A, Lubieniecka J, Cho KS, DeHaai KA, Basiratnia M, Mari PO, Xue Y, Rauth M, Olney AH, Shago M, Choi K, Weksberg RA, Nowaczyk MJ, Wang W, Jaspers NG, Boerkoel CF.

Am J Med Genet A. 2012 Sep;158A(9):2204-13. doi: 10.1002/ajmg.a.35532. Epub 2012 Aug 7.

28.

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.

Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.

PMID:
22639462
29.

Mammary analog secretory carcinoma of salivary gland origin with the ETV6 gene rearrangement by FISH: expanded morphologic and immunohistochemical spectrum of a recently described entity.

Connor A, Perez-Ordoñez B, Shago M, Skálová A, Weinreb I.

Am J Surg Pathol. 2012 Jan;36(1):27-34. doi: 10.1097/PAS.0b013e318231542a.

PMID:
21989350
30.

Cribriform neuroepithelial tumour: novel clinicopathological, ultrastructural and cytogenetic findings.

Ibrahim GM, Huang A, Halliday W, Dirks PB, Malkin D, Baskin B, Shago M, Hawkins C.

Acta Neuropathol. 2011 Oct;122(4):511-4. doi: 10.1007/s00401-011-0872-5. Epub 2011 Sep 15. No abstract available.

PMID:
21918902
31.

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.

Eur J Med Genet. 2011 May-Jun;54(3):272-6. doi: 10.1016/j.ejmg.2011.02.008. Epub 2011 Mar 2.

PMID:
21376145
32.

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.

Am J Hum Genet. 2010 Nov 12;87(5):631-42. doi: 10.1016/j.ajhg.2010.10.007.

33.

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.

Int J Cardiol. 2011 Jan 21;146(2):134-9. doi: 10.1016/j.ijcard.2010.05.070. Epub 2010 Jul 3. Review.

34.

Functional differences between myeloid leukemia-initiating and transient leukemia cells in Down's syndrome.

Chen J, Li Y, Doedens M, Wang P, Shago M, Dick JE, Hitzler JK.

Leukemia. 2010 May;24(5):1012-7. doi: 10.1038/leu.2010.30. Epub 2010 Mar 11. Erratum in: Leukemia. 2010 Aug;24(8):1542. Dick, J [corrected to Dick, J E].

PMID:
20220775
35.

Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations.

Tabori U, Baskin B, Shago M, Alon N, Taylor MD, Ray PN, Bouffet E, Malkin D, Hawkins C.

J Clin Oncol. 2010 Mar 10;28(8):1345-50. doi: 10.1200/JCO.2009.23.5952. Epub 2010 Feb 8.

PMID:
20142599
36.

Lymphadenoma: case report of a rare salivary gland tumor in childhood.

Chang KT, Chadha NK, Leung R, Shago M, Phillips MJ, Thorner PS.

Pediatr Dev Pathol. 2010 Jul-Aug;13(4):331-7. doi: 10.2350/09-08-0701-CR.1.

PMID:
20021220
37.

Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event.

Yoshimoto M, Graham C, Chilton-MacNeill S, Lee E, Shago M, Squire J, Zielenska M, Somers GR.

Cancer Genet Cytogenet. 2009 Nov;195(1):1-11. doi: 10.1016/j.cancergencyto.2009.06.015. Erratum in: Cancer Genet Cytogenet. 2010 Feb;197(1):99.

PMID:
19837261
38.

Splenic hamartoma in a child in the era of PET-CT.

Avila L, Sivaprakasam P, Viero S, Somers GR, Shago M, Gerstle JT, Metser U, Gupta AA.

Pediatr Blood Cancer. 2009 Jul;53(1):114-6. doi: 10.1002/pbc.21962.

PMID:
19340852
39.

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P.

Am J Med Genet A. 2009 Mar;149A(3):372-9. doi: 10.1002/ajmg.a.32675.

PMID:
19213033
40.

Telomere maintenance and dysfunction predict recurrence in paediatric ependymoma.

Tabori U, Wong V, Ma J, Shago M, Alon N, Rutka J, Bouffet E, Bartels U, Malkin D, Hawkins C.

Br J Cancer. 2008 Oct 7;99(7):1129-35. doi: 10.1038/sj.bjc.6604652. Epub 2008 Sep 16.

41.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

42.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW.

Cytogenet Genome Res. 2008;123(1-4):65-78. doi: 10.1159/000184693. Epub 2009 Mar 11.

43.

Translocation (X;10) in a child with therapy-related acute myeloid leukemia following chemotherapy for Ewing's Sarcoma.

Abla O, Dror Y, Shago M.

Cancer Genet Cytogenet. 2007 Oct 15;178(2):168-9. No abstract available.

PMID:
17954276
44.

Childhood myeloid/natural killer precursor acute leukemia with novel chromosomal aberrations der(5)t(4;5)(q31;q31.3) and t(14;17)(q32;q23).

Abdelhaleem M, Shago M, Sayeh E, Abla O.

Cancer Genet Cytogenet. 2007 Oct 15;178(2):141-3.

PMID:
17954270
45.

CUL7 is a novel antiapoptotic oncogene.

Kim SS, Shago M, Kaustov L, Boutros PC, Clendening JW, Sheng Y, Trentin GA, Barsyte-Lovejoy D, Mao DY, Kay R, Jurisica I, Arrowsmith CH, Penn LZ.

Cancer Res. 2007 Oct 15;67(20):9616-22.

46.

Childhood acute myeloid leukemia with hemophagocytosis by the blasts and inv(8)(p11q13) with MOZ-TIF2 fusion transcripts.

Abdelhaleem M, Shago M, Beimnet K, Sayeh E, Bartakke S, Weitzman S.

J Pediatr Hematol Oncol. 2007 Sep;29(9):643-5.

PMID:
17805042
47.

The diploid genome sequence of an individual human.

Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC.

PLoS Biol. 2007 Sep 4;5(10):e254.

48.

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.

Cancer Genet Cytogenet. 2007 Apr 1;174(1):35-41.

PMID:
17350464
49.

Toxicity and outcome of children with treatment related acute myeloid leukemia.

Tabori U, Revach G, Nathan PC, Strahm B, Rachlis A, Shago M, Grant R, Doyle J, Malkin D.

Pediatr Blood Cancer. 2008 Jan;50(1):17-23.

PMID:
17252569
50.

High incidence of CALM-AF10 fusion and the identification of a novel fusion transcript in acute megakaryoblastic leukemia in children without Down's syndrome.

Abdelhaleem M, Beimnet K, Kirby-Allen M, Naqvi A, Hitzler J, Shago M.

Leukemia. 2007 Feb;21(2):352-3. Epub 2006 Dec 14. No abstract available.

PMID:
17170719

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