Publications by authors named "Roger A Schultz"

44Publications

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

Am J Med Genet A 2014 Jan 20;164A(1):259-63. Epub 2013 Nov 20.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36163DOI Listing
January 2014

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

Leuk Lymphoma 2014 Mar 10;55(3):680-2. Epub 2013 Jul 10.

Department of Pathology, Johns Hopkins University , Baltimore, MD , USA.

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http://dx.doi.org/10.3109/10428194.2013.809076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251429PMC
March 2014

The use of cytogenetic microarrays in myelodysplastic syndrome characterization.

Methods Mol Biol 2013 ;973:69-85

Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.

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http://link.springer.com/content/pdf/10.1007/978-1-62703-281
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http://dx.doi.org/10.1007/978-1-62703-281-0_5DOI Listing
July 2013

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

Curr Opin Genet Dev 2012 Jun 13;22(3):264-71. Epub 2012 Feb 13.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.

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http://dx.doi.org/10.1016/j.gde.2012.01.005DOI Listing
June 2012

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

Carcinogenesis 2010 Jun 8;31(6):968-73. Epub 2009 Dec 8.

Children's Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA.

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http://dx.doi.org/10.1093/carcin/bgp309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878356PMC
June 2010

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

Mol Cytogenet 2009 Feb 13;2. Epub 2009 Feb 13.

McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1186/1755-8166-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2646739PMC
February 2009

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

Adv Exp Med Biol 2008 ;637:65-82

Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-9072, USA.

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http://dx.doi.org/10.1007/978-0-387-09599-8_8DOI Listing
February 2009

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

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

Department of Pathology, Children's Medical Center, and UT Southwestern Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.2350/07-06-0296.1DOI Listing
August 2008

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

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

Division of Reproductive Biology Research, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.

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http://dx.doi.org/10.1093/hmg/ddm145DOI Listing
November 2007

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

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

Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9072, USA.

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http://dx.doi.org/10.1016/j.dnarep.2006.09.009DOI Listing
January 2007

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.

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

Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9072, USA.

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http://dx.doi.org/10.1016/j.dnarep.2006.09.008DOI Listing
January 2007

A Tlr7 translocation accelerates systemic autoimmunity in murine lupus.

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

Center for Immunology and Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.

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http://dx.doi.org/10.1073/pnas.0603912103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502563PMC
June 2006

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

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

Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, 75390, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S156878640600144
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http://dx.doi.org/10.1016/j.dnarep.2006.03.012DOI Listing
July 2006

Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.

Am J Hum Genet 2005 Jul 10;77(1):132-9. Epub 2005 May 10.

Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390-9072, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970760909
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http://dx.doi.org/10.1086/431328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226185PMC
July 2005

"Proximal-type" and classic epithelioid sarcomas represent a clinicopathologic continuum: case report.

Pediatr Dev Pathol 2005 Jan-Feb;8(1):105-14. Epub 2004 Nov 17.

Department of Pathology, Children's Medical Center of Dallas, 1935 Motor Street, Dallas, TX 75235, USA.

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http://dx.doi.org/10.1007/s10024-004-7086-yDOI Listing
June 2005

Renal metanephric adenoma with previously unreported cytogenetic abnormalities: case report and review of the literature.

Pediatr Dev Pathol 2005 Mar-Apr;8(2):218-23. Epub 2005 Mar 8.

Department of Pathology, Children's Medical Center of Dallas, 1935 Motor Street, Dallas, TX 75235, USA.

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http://link.springer.com/10.1007/s10024-004-7081-3
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http://dx.doi.org/10.1007/s10024-004-7081-3DOI Listing
July 2005

Extrapleural benign solitary fibrous tumor in the shoulder of a 9-year-old girl: case report and review of the literature.

Pediatr Dev Pathol 2004 Nov-Dec;7(6):653-60. Epub 2004 Nov 17.

Department of Pathology, MC 9073, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1007/s10024-004-6065-7DOI Listing
May 2005

Bone marrow-derived cells contribute to contractile dysfunction in endotoxic shock.

Am J Physiol Heart Circ Physiol 2005 Feb 30;288(2):H577-83. Epub 2004 Sep 30.

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9063, USA.

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http://dx.doi.org/10.1152/ajpheart.00745.2004DOI Listing
February 2005

The role of endogenous and exogenous DNA damage and mutagenesis.

Curr Opin Genet Dev 2004 Feb;14(1):5-10

Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9072, USA.

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http://www.bath.ac.uk/bio-sci/hejmadi/BB200230110/2007-8/rep
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http://linkinghub.elsevier.com/retrieve/pii/S0959437X0300163
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http://dx.doi.org/10.1016/j.gde.2003.11.001DOI Listing
February 2004

Chromosome instability and tumor predisposition inversely correlate with BLM protein levels.

DNA Repair (Amst) 2003 Dec;2(12):1387-404

Department of Pathology, CY1.107, UT Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8840, USA.

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http://dx.doi.org/10.1016/j.dnarep.2003.08.006DOI Listing
December 2003

Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.

N Engl J Med 2003 May;348(19):1855-65

Department of Obstetrics and Gynecology, University of Illinois at Chicago, Chicago, USA.

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http://www.nejm.org/doi/abs/10.1056/NEJMoa021559
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http://dx.doi.org/10.1056/NEJMoa021559DOI Listing
May 2003

The gene CSTF2T, encoding the human variant CstF-64 polyadenylation protein tauCstF-64, lacks introns and may be associated with male sterility.

Genomics 2002 Nov;80(5):509-14

Department of Cell Biology & Biochemistry, Texas Tech University Health Sciences Center, Lubbock, Texas, 79430, USA.

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November 2002

Characteristics and capabilities of the hyperspectral imaging microscope.

IEEE Eng Med Biol Mag 2002 Jul-Aug;21(4):104-17

McDermott Center for Human Growth and Development, Center for Biomedical Inventions, University of Texas Southwestern Medical Center, USA.

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http://dx.doi.org/10.1109/memb.2002.1032647DOI Listing
February 2003

Genomic organization and mapping of the gene encoding the PP2A B56gamma regulatory subunit.

Genomics 2002 Mar;79(3):344-8

Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, 6000 Harry Hines Blvd., Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1006/geno.2002.6721DOI Listing
March 2002

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

Am J Hum Genet 2002 Feb 27;70(2):537-42. Epub 2001 Nov 27.

Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, United Kingdom.

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http://dx.doi.org/10.1086/338708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384927PMC
February 2002