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Items: 1 to 50 of 143

1.

Diagnostic utility of microarray testing in pregnancy loss.

Rosenfeld JA, Tucker ME, Escobar LF, Neill NJ, Torchia BS, McDaniel LD, Schultz RA, Chong K, Chitayat D.

Ultrasound Obstet Gynecol. 2015 Oct;46(4):478-86. doi: 10.1002/uog.14866. Epub 2015 Sep 1.

2.

Studies towards optimising the isolation of diplonine, a neurotoxin isolated from cultures of Stenocarpella maydis (Berk.) Sacc.

Snyman LD, Flett BC, Schultz RA.

Onderstepoort J Vet Res. 2014 Nov 12;81(1):e1-e4. doi: 10.4102/ojvr.v81i1.765.

PMID:
25686294
3.

Genomic microarray analysis on formalin-fixed paraffin-embedded material for uveal melanoma prognostication.

Minca EC, Tubbs RR, Portier BP, Wang Z, Lanigan C, Aronow ME, Triozzi PL, Singh A, Cook JR, Saunthararajah Y, Plesec TP, Schoenfield L, Cawich V, Sulpizio S, Schultz RA.

Cancer Genet. 2014 Jul-Aug;207(7-8):306-15. doi: 10.1016/j.cancergen.2014.08.005. Epub 2014 Aug 29.

PMID:
25442074
4.

Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.

Rosenfeld JA, Morton SA, Hummel C, Sulpizio SG, McDaniel LD, Schultz RA, Torchia BS, Ravnan JB, Ellison JW, Fisher AJ.

Fetal Diagn Ther. 2014;36(3):231-41. doi: 10.1159/000360081. Epub 2014 Aug 8.

PMID:
25115231
5.

Spatial variation of epoxyscillirosidine concentrations in Moraea pallida (yellow tulp) in South Africa.

Botha CJ, Coetser H, Schultz RA, Labuschagne L, van der Merwe D.

Onderstepoort J Vet Res. 2013;80(1):543. doi: 10.4102/ojvr.v80i1.543.

PMID:
24396906
6.

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW.

Am J Med Genet A. 2014 Jan;164A(1):259-63. doi: 10.1002/ajmg.a.36163. Epub 2013 Nov 20. No abstract available.

PMID:
24259484
7.

Value of oligonucleotide-based array comparative genomic hybridization for diagnosis of acute promyelocytic leukemia in a patient negative for t(15;17)(q24.1;q21.2)/promyelocytic leukemia-retinoic acid receptor, alpha by conventional cytogenetics and fluorescence in situ hybridization.

Alayed K, Medeiros LJ, Schultz RA, Cortes J, Lu G, Bueso-Ramos CE, Konoplev S.

Clin Lymphoma Myeloma Leuk. 2013 Aug;13(4):507-10. doi: 10.1016/j.clml.2013.03.007. Epub 2013 Jun 14. No abstract available.

8.

Cryptic chromosome abnormalities in a patient with mixed phenotype acute leukemia.

Ning Y, Slovak ML, Schultz RA, Gojo I, Baer MR.

Leuk Lymphoma. 2014 Mar;55(3):680-2. doi: 10.3109/10428194.2013.809076. Epub 2013 Jul 10. No abstract available.

9.

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG.

Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5.

10.

The use of cytogenetic microarrays in myelodysplastic syndrome characterization.

Shaffer LG, Ballif BC, Schultz RA.

Methods Mol Biol. 2013;973:69-85. doi: 10.1007/978-1-62703-281-0_5.

PMID:
23412784
11.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED.

Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7.

12.

Modified array-based comparative genomic hybridization detects cryptic and variant PML-RARA rearrangements in acute promyelocytic leukemia lacking classic translocations.

Gruver AM, Rogers HJ, Cook JR, Ballif BC, Schultz RA, Batanian JR, Fesler MJ, Tubbs RR.

Diagn Mol Pathol. 2013 Mar;22(1):10-21. doi: 10.1097/PDM.0b013e31825b8326.

PMID:
23370423
13.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC.

Mol Syndromol. 2012 Sep;3(3):102-112. Epub 2012 Aug 23.

14.

The use of new technologies in the detection of balanced translocations in hematologic disorders.

Shaffer LG, Schultz RA, Ballif BC.

Curr Opin Genet Dev. 2012 Jun;22(3):264-71. doi: 10.1016/j.gde.2012.01.005. Epub 2012 Feb 13. Review.

PMID:
22336526
15.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

16.

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.

Moles KJ, Gowans GC, Gedela S, Beversdorf D, Yu A, Seaver LH, Schultz RA, Rosenfeld JA, Torchia BS, Shaffer LG.

Genet Med. 2012 May;14(5):508-14. doi: 10.1038/gim.2011.46. Epub 2012 Jan 12.

PMID:
22241097
17.

Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes.

Kolquist KA, Schultz RA, Furrow A, Brown TC, Han JY, Campbell LJ, Wall M, Slovak ML, Shaffer LG, Ballif BC.

Cancer Genet. 2011 Nov;204(11):603-28. doi: 10.1016/j.cancergen.2011.10.004.

PMID:
22200086
18.

Variability of yellow tulp (Moraea pallida Bak.) toxicity.

Snyman LD, Schultz RA, van den Berg H.

J S Afr Vet Assoc. 2011 Jun;82(2):131-2.

PMID:
22135929
19.

Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis.

Kolquist KA, Schultz RA, Slovak ML, McDaniel LD, Brown TC, Tubbs RR, Cook JR, Theil KS, Cawich V, Valentin C, Minier S, Neill NJ, Byerly S, Morton SA, Sahoo T, Ballif BC, Shaffer LG.

Mol Cytogenet. 2011 Nov 16;4:25. doi: 10.1186/1755-8166-4-25.

20.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.

Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.

PMID:
21800092
21.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

PMID:
21792059
22.

Diplonine, a neurotoxin isolated from cultures of the fungus Stenocarpella maydis (Berk.) Sacc. that induces diplodiosis.

Snyman LD, Kellerman TS, Vleggaar R, Flett BC, Basson KM, Schultz RA.

J Agric Food Chem. 2011 Aug 24;59(16):9039-44. doi: 10.1021/jf202735e. Epub 2011 Aug 2.

PMID:
21780820
23.

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG.

Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8.

PMID:
21744490
24.

Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia.

Yu L, Slovak ML, Mannoor K, Chen C, Hunger SP, Carroll AJ, Schultz RA, Shaffer LG, Ballif BC, Ning Y.

Leukemia. 2011 Jun;25(6):1042-6. doi: 10.1038/leu.2011.33. Epub 2011 Mar 8. No abstract available.

PMID:
21383747
25.

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Neill NJ, Ballif BC, Lamb AN, Parikh S, Ravnan JB, Schultz RA, Torchia BS, Rosenfeld JA, Shaffer LG.

Genome Res. 2011 Apr;21(4):535-44. doi: 10.1101/gr.114579.110. Epub 2011 Mar 7.

26.

Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis.

Schultz RA, Delioukina M, Gaal K, Bedell V, Smith DD, Forman SJ, McDaniel LD, Ballif BC, Shaffer LG, Slovak ML.

Mol Cytogenet. 2011 Feb 3;4(1):4. doi: 10.1186/1755-8166-4-4.

27.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.

Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15.

PMID:
20951845
28.

Upregulation of TRAG3 gene in urothelial carcinoma of the bladder.

Karam JA, Huang S, Fan J, Stanfield J, Schultz RA, Pong RC, Sun X, Mason RP, Xie XJ, Niu G, Chen X, Frenkel EP, Sagalowsky AI, Hsieh JT.

Int J Cancer. 2011 Jun 15;128(12):2823-32. doi: 10.1002/ijc.25631. Epub 2010 Oct 26.

29.

Evaluation of activated charcoal as treatment for Yellow tulp (Moraea pallida) poisoning in cattle.

Snyman LD, Schultz RA, Botha CJ, Labuschagne L, Joubert JP.

J S Afr Vet Assoc. 2009 Dec;80(4):274-5.

PMID:
20458873
30.

Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.

Tereshchenko IV, Chen Y, McDaniel LD, Schultz RA, Tischfield JA, Shao C.

DNA Repair (Amst). 2010 May 4;9(5):551-7. doi: 10.1016/j.dnarep.2010.02.005. Epub 2010 Mar 17.

PMID:
20299287
31.

A fluorescent investigation of subcellular damage in H9c2 cells caused by pavetamine, a novel polyamine.

Ellis CE, Naicker D, Basson KM, Botha CJ, Meintjes RA, Schultz RA.

Toxicol In Vitro. 2010 Jun;24(4):1258-65. doi: 10.1016/j.tiv.2010.02.002. Epub 2010 Feb 8.

PMID:
20149863
32.

Damage to some contractile and cytoskeleton proteins of the sarcomere in rat neonatal cardiomyocytes after exposure to pavetamine.

Ellis CE, Naicker D, Basson KM, Botha CJ, Meintjes RA, Schultz RA.

Toxicon. 2010 Jun 1;55(6):1071-9. doi: 10.1016/j.toxicon.2009.12.006. Epub 2009 Dec 21.

PMID:
20026156
33.

Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.

Davari P, Hebert JL, Albertson DG, Huey B, Roy R, Mancianti ML, Horvai AE, McDaniel LD, Schultz RA, Epstein EH Jr.

Carcinogenesis. 2010 Jun;31(6):968-73. doi: 10.1093/carcin/bgp309. Epub 2009 Dec 8.

34.

Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agents.

Hemphill AW, Akkari Y, Newell AH, Schultz RA, Grompe M, North PS, Hickson ID, Jakobs PM, Rennie S, Pauw D, Hejna J, Olson SB, Moses RE.

Cytogenet Genome Res. 2009;125(3):165-75. doi: 10.1159/000230001. Epub 2009 Sep 4.

35.

Changes in sheep oesophageal diameter and function during Geigeria ornativa (vermeerbos) poisoning and subsequent recovery.

Snyman LD, Carstens A, Schultz RA, Joubert JP, Labuschagne L.

J S Afr Vet Assoc. 2008 Dec;79(4):178-84.

PMID:
19496318
36.

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.

Bhoj EJ, Romeo S, Baroni MG, Bartov G, Schultz RA, Zinn AR.

Mol Cytogenet. 2009 Feb 13;2:5. doi: 10.1186/1755-8166-2-5.

37.

XPF/ERCC4 and ERCC1: their products and biological roles.

McDaniel LD, Schultz RA.

Adv Exp Med Biol. 2008;637:65-82. Review.

PMID:
19181112
38.

Cytotoxicity and ultrastructural changes in H9c2(2-1) cells treated with pavetamine, a novel polyamine.

Ellis CE, Naicker D, Basson KM, Botha CJ, Meintjes RA, Schultz RA.

Toxicon. 2010 Jan;55(1):12-9. doi: 10.1016/j.toxicon.2008.11.017. Epub 2008 Dec 6.

PMID:
19095003
39.

Cardiotoxic effects of pavetamine extracted from Pavetta harborii in the rat.

Hay L, Schultz RA, Schutte PJ.

Onderstepoort J Vet Res. 2008 Sep;75(3):249-53.

PMID:
19040139
40.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW.

Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14.

PMID:
18411254
41.

Translocation (4;19)(q35;q13.1)-associated primitive round cell sarcoma: report of a case and review of the literature.

Rakheja D, Goldman S, Wilson KS, Lenarsky C, Weinthal J, Schultz RA.

Pediatr Dev Pathol. 2008 May-Jun;11(3):239-44. Epub 2007 Jul 16.

PMID:
17990934
42.

Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.

Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Mendonca BB, Hanaki K, Kanzaki S, Rhoads DB, Misra M, Bulun SE.

Hum Mol Genet. 2007 Nov 1;16(21):2529-41. Epub 2007 Jun 21.

PMID:
17584767
43.

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13.

Garcia NM, Allgood J, Santos LJ, Lonergan D, Batanian JR, Henkemeyer M, Bartsch O, Schultz RA, Zinn AR, Baker LA.

J Pediatr Urol. 2006 Aug;2(4):233-242.

44.

Validation of XP-C pathogenic variations in archival material from a live XP patient.

McDaniel LD, Rivera-Begeman A, Doughty AT, Schultz RA, Friedberg EC.

DNA Repair (Amst). 2007 Jan 4;6(1):115-20. Epub 2006 Nov 3.

PMID:
17084680
45.

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

Rivera-Begeman A, McDaniel LD, Schultz RA, Friedberg EC.

DNA Repair (Amst). 2007 Jan 4;6(1):100-14. Epub 2006 Oct 31.

PMID:
17079196
46.

A Tlr7 translocation accelerates systemic autoimmunity in murine lupus.

Subramanian S, Tus K, Li QZ, Wang A, Tian XH, Zhou J, Liang C, Bartov G, McDaniel LD, Zhou XJ, Schultz RA, Wakeland EK.

Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):9970-5. Epub 2006 Jun 15.

47.

TERF2-XPF: caught in the middle; beginnings from the end.

McDaniel LD, Schultz RA, Friedberg EC.

DNA Repair (Amst). 2006 Jul 13;5(7):868-72. Epub 2006 Jun 9.

PMID:
16762604
48.

Immunophenotypic identification of acute myeloid leukemia with monocytic differentiation.

Xu Y, McKenna RW, Wilson KS, Karandikar NJ, Schultz RA, Kroft SH.

Leukemia. 2006 Jul;20(7):1321-4. Epub 2006 Apr 27. No abstract available.

PMID:
16642046
49.

A study of the pathology and pathogenesis of the myocardial lesions in gousiekte, a plant-induced cardiotoxicosis of ruminants.

Prozesky L, Bastianello SS, Fourie N, Schultz RA.

Onderstepoort J Vet Res. 2005 Sep;72(3):219-30.

PMID:
16300190
50.

The role of fluorescence polarization immuno-assay in the diagnosis of plant-induced cardiac glycoside poisoning livestock in South Africa.

Schultz RA, Kellerman TS, Van Den Berg H.

Onderstepoort J Vet Res. 2005 Sep;72(3):189-201.

PMID:
16300187

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