Recent Publications from WFU Medical Genetics
(2000 to present)
Gilbert JR, Kumar A, Newey S, Rao N, Ioannou P, Qiu H, Lin D, Xu P, Pettenati MJ, Pericak-Vance MA. Physical and cDNA Mapping in the DBH Region of Human Chromosome 9q34. Hum Hered 2000;50:151-157.
Sloop KW, Showalter AD, Von Kap-Herr C, Pettenati MJ, Rhodes SJ. Structure of the human LHX3 gene and mapping to the subtelomeric region of chromosome 9. Gene 2000;245:237-243.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW Assignment of mimecan gene (OGN) to human chromosome band 9q22 by in situ hybridization. Cytogenet Cell Genet. 2000;88:326-327.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW. Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization Cytogenet Cell Genet. 2000;88(3-4):244-245.
Cina SJ, Collins KA, Pettenati MJ, Fitts M. Isolation and identification of female DNA on postcoital penile swabs. Am J Forensic Med Pathol 2000;21:97-100.
Cina MS, Collins KA, Fitts M, Pettenati MJ. Isolation and identification of male and female DNA on a postcoital condom. Arch Pathol Lab Med 2000;124:1083-1086.
Collins KA, Cina MS, Pettenati MJ, Fitts M. Identification of female cells in postcoital pnile swabs using Fluorescence In Situ Hybridization. Arch Pathol Lab Med 2000;124:1080-1082.
Von Kap-Herr C, Kandala G, Mann S, Hart T, Pettenati MJ, Setaluri V. Assignment of gene encoding GIPC, a RGS-GAIP interacting, PDZ domain-containing protein to human chromosome band 19p13.1 Cytogenet Cell Genet 2000;89:234-235.
Duke SG, McGuirt WF Jr, Jewett T, Fasano MB. Velocardiofacial syndrome: incidence of immune cytopenias. Arch Otolaryngol Head Neck Surg. 2000;126:1141-5.
Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC. A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.Am J Hum Genet. 2000;66:469-79.
Keung Y-K, Pettenati MJ, Cruz JM, Powell BL, Woodruff RD, Buss DH. Bone marrow cytogenetic abnormalities of aplastic anemia. Am J. Hematology Hematology 2001;66:167-171.
Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature Prenatal Diagosis 2001;21:293-301.
Shashi V, Rickheim A, Pettenati MJ. Maternal Homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects. A J Med Genet 2001;100:25-29.
Barlow GM, Chen X-N, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR.. Down syndrome congenital heart disease: A narrowed region and a candidate gene. Genet Med 2001:3;91-101.
Mrozek K, Prior TW, Edward C, Marcucci G, Carroll AJ, Snyder PJ, Prasad RK, Koduru PRK, Theil DS, Pettenati MJ, Archer KJ, Caligiuri MA, Vardiman JW, Kolitz JE, Larson RA, Bloomfield CD. A comparison of cytogenetic and molecular genetic detection of t(8;21) and inv(16) in a prospective series of adults with de novo acute myeloid leukemia: A Cancer and Leukemia Group B Study. J Clin Oncol 2001:19;2482-2492.
Pettenati MJ, Berry M, Shashi V, Bowen JH, Harper M. Prenatal diagnosis of complete pure trisomy 1q. Prenatal Diag 2001;21:435-440.
Kiser M, McCubrey JA, Steelman LS, Ramage J, Alexander RL, Kucera GL, Pettenati MJ, Willingham MC, Miller MS, Frankel AE. Ongogene-Dependent engraftment of human myeloid leukemia cells in immuosupressed mice. Leukemia 2001;15:814-818.
Pierce RA, Field, ED, Mutis T, Golovina TN, Von Kap-Herr C, Wilke M, Pool J, Shabanowitz J, Pettenati MJ, Eisenlohr LC, Hunt DF, Goulmy E, Engelhard VH. The HA-2 minor histocompatibility antigen is derived from a diallelic gene encoding a novel human class I myosin protein. J Immunol 2001;167:3223-3230.
Zhang Y, Gorry MC, Hart PS, Pettenati MJ, Wang L, Marks JJ, Lu X., Hart TC. Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-->p21. Cytogenetics & Cell Genetics. 2001;95:146-152.
Renno SI, Moreland WS, Pettenati MJ, Beaty MW, Keung Y-K. Primary malignant lymphoma of uterine corpus: Case report and review of literature. Ann Hematol 2002;81:44-47.
Pettenati MJ, Von Kap-Herr C, Jackle B, Bobby P, Mowrey P, Schwartz S, Rao PN, Rosnes J. Rapid prenatal interphase analysis of translocation carriers using subtelomeric probes. Prenat Diag 2002:22;193-197.
Pettenati MJ, Jackle B, Bobby P, Stewart W, Mowrey P, May KM, Von Kap-Herr C, Rao PN. Unexpected Positioning of Subtelomeric DNA Probes in Chromosome Anomalies: Potential effects on chromosome pairing and clinical consequences. Am J Med Genet 2002:111;48-53.
Keung Yi-K, Buss D, Powell BL, Pettenati M. Central diabetes insipidus and inv(3)(q21q26) and monosomy 7 in acute myeloid leukemia Cancer Genet Cytogenet 2002:136:78-81.
Zhang Y, Hart PS, Moretti AJ, Bouwsma OJ, Fisher EM, Dudlicek L, Pettenati MJ, Hart TC. Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. Human Mutation. 2002:20;75.
Farag SS, Archer KJ, Mrozek K, Vardiman JW, Carroll AJ, Pettenati MJ, Moore JO, Kolitz JE, Mayer RJ, Stone RM, Larson RA, Bloomfield CD. Isolated trisomy of chromosomes 8, 11, 13 and 21 is an adverse prognostic factor in adults with de novo acute myeloid leukemia: Results from Cancer and Leukemia Group B 8461. Int J Oncol 2002;21:1041-51.
Byrd JC, Mrózek K, Dodge RK, Carroll AJ, Edwards C, Arthur DC, Pettenati MJ, Patil SR, Rao KW, Watson MS, Moore JO, Stone RM, Mayer RJ, Davey FR, Schiffer CA, Larson RA, Bloomfield CD. Pre-treatment primary but not secondary cytogenetic abnormalities are predictive of induction success and overall survival in adult patients with de novo acute myeloid leukemia: Results from CALGB 8461. Blood 2002:100;4325-4330.
Watson MS, Moore JO, Stone RM, Mayer RJ, Davey FR, Schiffer CA, Larson RA, Bloomfield CD. Pre-treatment primary but not secondary cytogenetic abnormalities are predictive of induction success and overall survival in adult patients with de novo acute myeloid leukemia: Results from CALGB 8461. Blood 2002:100;4325-4330.
Yi-Kong K, Beaty M, Stewart W, Jackle B, Pettenati MJ. Chronic myeloid leukemia with eosinophilia, t(9;12)(q34;p13) and etv6-abl gene rearrangement - case report and review of literature. Can Genet Cytogenet 2002:138;139-142.
Yi-Kong K, Chauvent A, Buss D, Pettenati MJ. Hematological malignancies and Klinefelter syndrome: A chance association? Can Genet Cytogenet 2002;139:9-13.
Daniel E, McCurdy EA, Shashi V, McGuirt WF Jr. Ectodermal dysplasia: otolaryngologic manifestations and management.Laryngoscope. 2002;112:962-7.
Shashi V, Berry MN, Covitz W. A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome. Am J Med Genet. 2002;108:205-8.
Zamkoff KW, Bergman S, Beaty M, Buss D, Pettenati MJ, Hurd D. Fatal EBV Related post transplant lymphoproliferative disorder (lpd) after matched related donor non-myeloablative peripheral blood progenitor cell transplant (nmasct) conditioned with fludarabine, cyclophosphamide and rabbit antithymocyte globulin. BMT 2003:31;219-222.
Hagenstad CT, Kilpatrick SE, Pettenati MJ, Savage PD. Inflammatory myofibroblastic tumor with bone marrow involvement a case report and review of the literature. Arch Path Lab Med. 2003:127;865–867
Keung Yi-K, Knovich MA, Powell BL, Buss DH, Pettenati M. Constitutional pericentric inversion of chromosome 9 and acute leukemia. Can Genet Cytogenet 2003;145:82-85.
Zheng SL., Mychaleckyj JC, Hawkins GA, Isaacs SD, Wiley KE, Turner A, Chang B-l, von Kap-Herr C, Carpten JD, Pettenati MJ, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB, Jianfeng X. Evaluation of DLC1 as a prostate cancer susceptibility gene: mutation screen and association. Mutat Res. 2003;528:45-53.
Shashi V, White JR, Pettenati MJ, Root SK, Bell WL. Ring chromosome 17: phenotype variation by deletion size. Clin Genet 2003:64;361–365.
Jhala DN, Eltoum I, Carroll AJ, Lopez-Ben R, Lopez-Terrada D, Rao PH, Pettenati MJ, Siegal GP. Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud’s syndrome: A case report emphasizing the cytological and cytogenetic findings. Hum Path 2003:34;1354-1357.
Inman JL, Kute T, White W, Pettenati MJ, Levine EA. Absence of HER2 overexpression in metastatic malignant melanoma. J Surgical Oncology 2003:84;82-84.
Von Kap-herr C, Cockman T, Rudel L, Saner M, Pettenati MJ. Assignment of Acyl-CoA:cholesterol acyltransferase 1 and 2 (SOAT1, SOAT2) and Diacylglycerol O-acyltransferase 1 (DGAT1) to M. fascicularis chromosome band 1p32, 12q13, 8qter; C. aethiops sabaeus 13q22, 3q12, 1qter; S. sciureus 19q22, 15q21, 16qter by in situ hybridization. Cytogenet Genome Res 2003;103:203.
Shashi V, Berry MN, Hines MH. Vasomotor instability in neonates with chromosome 22q11 deletion syndrome.Am J Med Genet 2003;121:231-4.
Chauvenet AR, Shashi V, Selsky C, Morgan E, Kurtzberg J, Bell B; Pediatric Oncology Group Study. Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study.J Pediatr Hematol Oncol. 2003;25:316-20.
Dodge W, Cruz J, Zamkoff K, Hurd D, Pettenati MJ. Use of Fluorescence In Situ Hybridization to detect minimal residual disease in hematopoietic stem cell assays from peripheral blood stem cells of 2 patients with trisomy 8 and acute myeloid leukemia. Stem Cells Devel 2004;13;23-26.
Byrd JC, Ruppert AS, Mrozek K, Carroll AJ, Edwards CG, Arthur DC, Pettenati MJ, Stamberg J, Koduru PR, Moore JO, Mayer RJ, Davey FR, Larson RA, Bloomfield CD. Repetitive cycles of high-dose cytarabine benefit patients with acute myeloid leukemia and inv(16)(p13q22) or t(16;16)(p13;q22): results from CALGB 8461. J Clin Oncol. 2004;22:1087-1094.
Keung Yi-K, Beaty M, Powell BL, Molnar I, Buss D, Pettenati M. Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia – retrospective study and review of literature. Leuk Res. 2004:28;579-586.
Bloomfield CD, Ruppert AS, Mrozek K, Kolitz JE, Moore JO, Mayer RJ, Edwards CG, Sterling LJ, Vardiman JW, Carroll AJ, Pettenati MJ, Stamberg J, Byrd JC, Marcucci G, Larson RA. Core binding factor acute myeloid leukemia. Cancer and Leukemia Group B (CALGB) Study 8461. Ann Hematol. 2004;83:S84-5.
Farag SS, Ruppert AS, Mrozek K, Carroll AJ, Pettenati MJ, Le Beau MM, Peterson BL, Powell BL, Ozer H, Silver RT, Larson RA, Bloomfield CD. Prognostic significance of additional cytogenetic abnormalities in newly diagnosed patients with Philadelphia chromosome-positive chronic myelogenous leukemia treated with interferon-alpha: A Cancer and Leukemia Group B study. Int J Oncol. 2004; 25:143-51.
Marcucci G, Mrozek K, Ruppert AS, Archer KJ, Pettenati MJ, Heerema NA, Carroll AJ, Koduru PR, Kolitz JE, Sterling LJ, Edwards CG, Anastasi J, Larson RA, Bloomfield CD. Abnormal cytogenetics at date of morphologic complete remission predicts short overall and disease-free survival, and higher relapse rate in adult acute myeloid leukemia: results from Cancer and Leukemia Group B study 8461. J Clin Oncol. 2004;15:2410-8.
Blum W, Mrózek K, Ruppert AS, Carroll AJ, Rao KW, Pettenati MJ, Anastasi J, Larson RA, Bloomfield CD. Early allogeneic transplantation should be considered for adults with de novo acute myeloid leukemia presenting with t(6;11)(q27;q23): results from CALGB 8461 and review of the literature. Cancer 2004;101:1420-7.
Shashi V, Muddasani S, Santos CC, Berry MN, Kwapil TR, Lewandowski E, Keshavan MS. Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome. Neuroimage. 2004;21:1399-406
Farag SS, Ruppert AS, Mrozek K, Mayer RJ, Stone RM, Carroll AJ, Powell BL, Moore JO, Pettenati MJ, Koduru PR, Stamberg J, Baer MR, Block AW, Vardiman JW, Kolitz JE, Schiffer CA, Larson RA, Bloomfield CD. Outcome of induction and postremission therapy in younger adults with acute myeloid leukemia with normal karyotype: A Cancer and Leukemia Group B Study. J Clin Oncol. 2005:23;482-493.
Shen Y-J, DeLong CJ, Tercé F, Kute T, Willingham MC, Pettenati MJ, Cui Z. Polyploid formation via chromosome duplication induced by ctp: phosphocholine cytidylyltransferase deficiency and bcl-2 overexpression: identification of two novel endogenous factors. J Histochem & Cytochem 2005;53:725–733.
Marcucci G, Mrozek K, Ruppert AS, Maharry K, Kolitz JE, Moore JO, Mayer RJ, Pettenati MJ, Powell BL, Edwards CG; Sterling LJ, Vardiman JW, Schiffer CA, Carroll AL, Larson RA, Bloomfield CD. prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): A Cancer and Leukemia Group B Study. J Clinical Oncology J Clin Oncol. 2005; 23:5705-5717.
Brownlee NA, Koty P, Garvin AJ, Pettenati MJ. . Kidney: t(10;17) in clear cell sarcoma of the kidney. Atlas Genet Cytogenet Oncol Haematol. August 2005.
http://www.infobiogen.fr/services/chromcancer/Tumors/t1017ClCellSarcID5412.html
Taylor CA, Barnhart A, Pettenati MJ, Geisinger KR. Primary pleuropulmonary synovial sarcoma diagnosed by fine needle aspiration with cytogenetic confirmation. ACTA Cytologica 2005;49:673-675.
Brownlee NA, Jones HL, Pettenati MJ. Classical and molecular cytogenetics techniques and their use in the pathologic diagnosis of tumors. J Histotechnology.2005;28:209-215.
Cover of The Journal of Histotechnology
McLean TW, Farber RS, Lewis ZT, Wofford MW, Pettenati MJ, Pranikoff T, Chauvenet AR Diagnosis of Burkitt's Lymphoma in Pediatric Patients by Thoracentesis. Can Pediatr Blood 2005.
Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA. Mosaicism for an FMR1 gene deletion in a fragile X female. Am J Med Genet 2005;136:214-7
Hicks AH, Riedlinger G, Willingham MC, Alexander-Miller MA, Von Kap-Herr C, Pettenati MJ, Sanders AM, Weir HM, Du W, Kim J, Simpson AJG, Lloyd Old J, Cui Z. Transferable anticancer innate immunity in spontaneous regression/complete resistance mice PNAS 103: 2006;7753-7758.
Connor RF, Hurd D, Pettenati MJ, Koty P, Molnar I. Addition of Sargramostim (GM-CSF) To Imatinib Results In Major Cytogenetic Response In A Patient With Chronic Myeloid Leukemia. Leuk Res. 2006 Mar 2
Brownlee NA, Koty P, Buss DH, Pettenati MJ. I(9q) in ALL. Atlas Genet Cytogenet Oncol Haematol. June 2006.
http://www.infobiogen.fr/services/chromcancer/Anomalies/i9qID1063.html
Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil TR. Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. Clin Genet. 2006;69:234-8.