Urvashi Surti

Urvashi Surti

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Urvashi Surti

Publications by authors named "Urvashi Surti"

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Low-level BCR-ABL1 transcripts in individuals without overt hematologic malignancy.

Leuk Res 2019 Jun 22;81:98-101. Epub 2019 Apr 22.

University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2019.04.009DOI Listing
June 2019

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

Eur J Med Genet 2019 Apr 23;62(4):239-242. Epub 2018 Jul 23.

Medical Genetics & Genomics Laboratories, Magee-Womens Hospital of UPMC, Pittsburgh, PA, Unitetd States; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, Unitetd States; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Unitetd States; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, Unitetd States; Magee-Womens Research Institute, Pittsburgh, PA, Unitetd States. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.021DOI Listing
April 2019

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.

J Hum Genet 2019 Mar 12;64(3):253-255. Epub 2018 Dec 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1038/s10038-018-0543-7DOI Listing
March 2019

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Am J Med Genet A 2018 12 10;176(12):2720-2732. Epub 2018 Oct 10.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.40646
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http://dx.doi.org/10.1002/ajmg.a.40646DOI Listing
December 2018

CD49d shows superior performance characteristics for flow cytometric prognostic testing in chronic lymphocytic leukemia/small lymphocytic lymphoma.

Cytometry B Clin Cytom 2018 01 27;94(1):129-135. Epub 2016 Jun 27.

Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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http://doi.wiley.com/10.1002/cyto.b.21384
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http://dx.doi.org/10.1002/cyto.b.21384DOI Listing
January 2018

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Am J Med Genet A 2017 Dec 19;173(12):3153-3157. Epub 2017 Oct 19.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38497DOI Listing
December 2017

Further Exploration of the Complexities of Large B-Cell Lymphomas With MYC Abnormalities and the Importance of a Blastoid Morphology.

Am J Surg Pathol 2017 Sep;41(9):1155-1166

University of Pittsburgh School of Medicine, Pittsburgh, PA.

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http://dx.doi.org/10.1097/PAS.0000000000000818DOI Listing
September 2017

Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.

Placenta 2017 Sep 2;57:33-41. Epub 2017 Jun 2.

Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.placenta.2017.05.018DOI Listing
September 2017

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Mol Cytogenet 2017 19;10:24. Epub 2017 Jun 19.

Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.

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http://dx.doi.org/10.1186/s13039-017-0326-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477234PMC
June 2017

The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia.

Cytogenet Genome Res 2016 18;150(3-4):242-252. Epub 2017 Feb 18.

Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1159/000456572DOI Listing
April 2017

Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.

Cytogenet Genome Res 2016 3;150(3-4):253-261. Epub 2017 Mar 3.

Department of Pathology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1159/000458167DOI Listing
April 2017

Correlation of Classic and Molecular Cytogenetic Alterations in Soft-Tissue Sarcomas: Analysis of 46 Tumors With Emphasis on Adipocytic Tumors and Synovial Sarcoma.

Appl Immunohistochem Mol Morphol 2017 03;25(3):168-177

*Department of Pathology, Presbyterian-Shadyside Hospitals ‡Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital, University of Pittsburgh Medical Center †Department of Pathology, University of Pittsburgh School of Medicine §Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA.

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http://Insights.ovid.com/crossref?an=00129039-201703000-0000
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http://dx.doi.org/10.1097/PAI.0000000000000294DOI Listing
March 2017

Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.

Fertil Steril 2017 02 23;107(2):457-466.e9. Epub 2016 Nov 23.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Pathology, Magee-Women's Hospital of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania; Magee-Women's Research Institute, Pittsburgh, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2016.10.035DOI Listing
February 2017

Chronic lymphocytic leukemia/small lymphocytic lymphoma: another neoplasm related to the B-cell follicle?

Leuk Lymphoma 2015 26;56(12):3378-86. Epub 2015 May 26.

a University of Pittsburgh School of Medicine , Pittsburgh , PA , USA.

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http://dx.doi.org/10.3109/10428194.2015.1037759DOI Listing
September 2016

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Am J Med Genet A 2016 09 10;170(9):2365-71. Epub 2016 Jun 10.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37793DOI Listing
September 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Expression of S100 Protein in CD4-positive T-cell Lymphomas Is Often Associated With T-cell Prolymphocytic Leukemia.

Am J Surg Pathol 2015 Dec;39(12):1679-87

*Department of Pathology, Division of Hematopathology, University of Pittsburgh School of Medicine, Pittsburgh, PA ¶Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA §Department of Pathology, Penn State College of Medicine, Milton S. Hershey Medical Center, Hershey, PA ‡Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA ∥Department of Pathology, City of Hope Medical Center, Duarte, CA Departments of †Pathology #Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PAS.0000000000000496DOI Listing
December 2015

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Am J Med Genet A 2015 Aug 10;167A(8):1921-6. Epub 2015 Apr 10.

Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.37110
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http://dx.doi.org/10.1002/ajmg.a.37110DOI Listing
August 2015

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

J Neurodev Disord 2015 6;7(1):26. Epub 2015 Aug 6.

Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.

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http://dx.doi.org/10.1186/s11689-015-9122-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528395PMC
August 2015

Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.

J Assoc Genet Technol 2014 ;40(1):16-21

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, and Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, and Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA.

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June 2015

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Am J Med Genet A 2015 May 21;167A(5):1047-53. Epub 2015 Mar 21.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36839DOI Listing
May 2015

Recent advances of genomic testing in perinatal medicine.

Semin Perinatol 2015 Feb 28;39(1):44-54. Epub 2014 Nov 28.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA; Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Ave, Pittsburgh, PA 15213; Department of Pathology, University of Pittsburgh, Pittsburgh, PA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1053/j.semperi.2014.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4883661PMC
February 2015

Resolving the complexity of the human genome using single-molecule sequencing.

Nature 2015 Jan 10;517(7536):608-11. Epub 2014 Nov 10.

1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.

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https://www.nature.com/articles/nature13907.pdf
Web Search
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317254/
Web Search
http://www.nature.com/articles/nature13907
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http://dx.doi.org/10.1038/nature13907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317254PMC
January 2015

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Am J Hum Genet 2014 Dec;95(6):754-62

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15261, USA; Department of Human Genetics, University of Pittsburgh, PA 15261, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259971PMC
December 2014

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

J Med Genet 2014 Sep 5;51(9):623-34. Epub 2014 Aug 5.

Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102546DOI Listing
September 2014

Large B-cell lymphoma of the base of the tongue and oral cavity: a practical approach to identifying prognostically important subtypes.

Oral Surg Oral Med Oral Pathol Oral Radiol 2014 Sep 14;118(3):338-47. Epub 2014 Jun 14.

Professor of Pathology, Department of Pathology, Division of Hematopathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.oooo.2014.06.002DOI Listing
September 2014

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Am J Med Genet A 2014 Mar 17;164A(3):810-4. Epub 2014 Jan 17.

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, Pennsylvania; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36359DOI Listing
March 2014

Whole-genome single nucleotide polymorphism array analysis is complementary to classical cytogenetic analysis in the evaluation of lymphoid proliferations.

Am J Clin Pathol 2014 Feb;141(2):247-55

UPMC Presbyterian Hospital, Room G-314, 200 Lothrop St, Pittsburgh, PA 15213; e-mail:

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http://dx.doi.org/10.1309/AJCPRHGHT28DUWLADOI Listing
February 2014

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Am J Med Genet A 2013 Jan 7;161A(1):179-84. Epub 2012 Dec 7.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA.

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http://dx.doi.org/10.1002/ajmg.a.35658DOI Listing
January 2013

Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Prenat Diagn 2012 Dec 26;32(12):1166-9. Epub 2012 Sep 26.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1002/pd.3977DOI Listing
December 2012

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Genet Res Int 2011 17;2011:185271. Epub 2011 Jul 17.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://www.hindawi.com/journals/gri/2011/185271/
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http://dx.doi.org/10.4061/2011/185271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335458PMC
August 2012

Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.

PLoS One 2012 12;7(3):e33251. Epub 2012 Mar 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0033251PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299761PMC
August 2012

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

Fetal Diagn Ther 2012 14;31(2):129-33. Epub 2011 Dec 14.

Magee-Womens Hospital, Pittsburgh, PA 15237, USA.

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http://dx.doi.org/10.1159/000332968DOI Listing
July 2012

Altered neutrophil maturation patterns that limit identification of myelodysplastic syndromes.

Cytometry B Clin Cytom 2012 Jul 19;82(4):217-28. Epub 2012 Mar 19.

Department of Pathology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1002/cyto.b.21016DOI Listing
July 2012

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Prenat Diagn 2012 Jun 11;32(6):542-9. Epub 2012 Apr 11.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1002/pd.3853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308692PMC
June 2012

ZAP-70 and Bcl-2 expression in B lymphoblastic leukemia cells and hematogones.

Cytometry B Clin Cytom 2012 Mar 26;82(2):85-92. Epub 2011 Oct 26.

Division of Hematopathology, Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1002/cyto.b.20623DOI Listing
March 2012

The genetics of gestational trophoblastic disease: a rare complication of pregnancy.

Cancer Genet 2012 Mar;205(3):63-77

Magee-Womens Research Institute and Foundation, Pittsburgh, PA, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S221077621200006
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http://dx.doi.org/10.1016/j.cancergen.2012.01.004DOI Listing
March 2012

A recurrent translocation is mediated by homologous recombination between HERV-H elements.

Mol Cytogenet 2012 Jan 19;5(1). Epub 2012 Jan 19.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1186/1755-8166-5-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292815PMC
January 2012

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Am J Med Genet A 2011 Nov 11;155A(11):2795-800. Epub 2011 Oct 11.

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.34237DOI Listing
November 2011

Reassessment of small lymphocytic lymphoma in the era of monoclonal B-cell lymphocytosis.

Haematologica 2011 Aug 5;96(8):1144-52. Epub 2011 May 5.

Department of Pathology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.3324/haematol.2011.042333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148908PMC
August 2011

Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.

Am J Med Genet A 2011 Aug 7;155A(8):1996-2002. Epub 2011 Jul 7.

Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.34106DOI Listing
August 2011

Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.

Fertil Steril 2011 Jun 29;95(7):2433.e9-15. Epub 2011 Apr 29.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00150282110051
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http://dx.doi.org/10.1016/j.fertnstert.2011.03.082DOI Listing
June 2011

Structural and regulatory characterization of the placental epigenome at its maternal interface.

PLoS One 2011 Feb 23;6(2):e14723. Epub 2011 Feb 23.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0014723PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044138PMC
February 2011

Simultaneous detection of imprinted gene expression (p57(KIP2)) and molecular cytogenetics (FICTION) in the evaluation of molar pregnancies.

J Reprod Med 2010 May-Jun;55(5-6):219-28

Magee-Women's Research Institute, Pittsburgh, PA 15213, USA.

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October 2010

High-resolution human genome structure by single-molecule analysis.

Proc Natl Acad Sci U S A 2010 Jun 1;107(24):10848-53. Epub 2010 Jun 1.

The Laboratory for Molecular and Computational Genomics, Department of Chemistry, Laboratory of Genetics and Biotechnology Center, University of Wisconsin, 425 Henry Mall, Madison, WI 53706-1580, USA.

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http://dx.doi.org/10.1073/pnas.0914638107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890719PMC
June 2010

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.

Am J Med Genet A 2010 May;152A(5):1295-9

Department of Radiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.

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http://dx.doi.org/10.1002/ajmg.a.33367DOI Listing
May 2010

Defining the borders of splenic marginal zone lymphoma: a multiparameter study.

Hum Pathol 2010 Apr 11;41(4):540-51. Epub 2009 Dec 11.

Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.humpath.2009.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879876PMC
April 2010

Follicular lymphomas with plasmacytic differentiation include two subtypes.

Mod Pathol 2010 Jan 16;23(1):71-9. Epub 2009 Oct 16.

Division of Hematopathology, Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1038/modpathol.2009.146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349384PMC
January 2010

A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Prenat Diagn 2009 Nov;29(11):1020-30

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, PA 15213, USA.

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http://doi.wiley.com/10.1002/pd.2335
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http://dx.doi.org/10.1002/pd.2335DOI Listing
November 2009

Fluorescence in situ hybridization studies on direct smears: an approach to enhance the fine-needle aspiration biopsy diagnosis of B-cell non-Hodgkin lymphomas.

Cancer 2009 Oct;117(5):338-48

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1002/cncy.20040DOI Listing
October 2009

Malignant granular cell tumor of the ulnar nerve with novel cytogenetic and molecular genetic findings.

Cancer Genet Cytogenet 2009 May;191(1):46-50

Department of Pathology, Presbyterian-Shadyside Hospital, University of Pittsburgh Medical Center, Room WG2.9, Pittsburgh, PA 15232, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016546080900082
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http://dx.doi.org/10.1016/j.cancergencyto.2009.01.011DOI Listing
May 2009

Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature.

Diagn Pathol 2009 May 18;4:15. Epub 2009 May 18.

Department of Pathology, Presbyterian-Shadyside Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1186/1746-1596-4-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690580PMC
May 2009

The equivocally amplified HER2 FISH result on breast core biopsy: indications for further sampling do affect patient management.

Am J Clin Pathol 2008 Mar;129(3):383-90

Department of Pathology, Magee-Womens Hospital, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1309/KFKDNK8CENVN24VUDOI Listing
March 2008

EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma.

Genes Chromosomes Cancer 2007 Dec;46(12):1051-60

Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.

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http://dx.doi.org/10.1002/gcc.20491DOI Listing
December 2007

Chondromyxoid fibroma of rib with a novel chromosomal translocation: a report of four additional cases at unusual sites.

Diagn Pathol 2007 Nov 24;2:44. Epub 2007 Nov 24.

Department of Pathology, Presbyterian-Shadyside Hospital, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

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http://diagnosticpathology.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1746-1596-2-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2203974PMC
November 2007

The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction.

Am J Med Genet A 2007 Oct;143A(19):2249-55

Center for Reproductive Biology and School of Molecular Biosciences, Washington State University, Pullman, Washington 99164-4660, USA.

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http://dx.doi.org/10.1002/ajmg.a.31918DOI Listing
October 2007

The origin of trisomy 13.

Am J Med Genet A 2007 Oct;143A(19):2242-8

Center for Reproductive Biology and School of Molecular Biosciences, Washington State University, Pullman, Washington 99164-4660, USA.

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http://dx.doi.org/10.1002/ajmg.a.31913DOI Listing
October 2007

Familial multiple lipomatosis: report of a new family.

Cutis 2007 Mar;79(3):227-32

University of Pittsburgh School of Medicine, Pennsylvania, USA.

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March 2007

Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma.

Mutat Res 2006 Dec 12;602(1-2):43-53. Epub 2006 Oct 12.

Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, Cincinnati, OH 45267-0524, USA.

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http://dx.doi.org/10.1016/j.mrfmmm.2006.07.007DOI Listing
December 2006

Application of multicolor banding for identification of complex chromosome 18 rearrangements.

J Mol Diagn 2006 Sep;8(4):521-5; quiz 528

Department of Genetics, Magee-Womens Hospital Pittsburgh, PA 15213, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867622PMC
http://dx.doi.org/10.2353/jmoldx.2006.060001DOI Listing
September 2006

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis.

Prenat Diagn 2006 May;26(5):454-61

School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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http://doi.wiley.com/10.1002/pd.1437
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May 2006

A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34.

J Am Soc Nephrol 2006 Apr;17(4):1158-67

Department of Pediatrics, Division of Pediatric Nephrology, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1681/ASN.2005040404DOI Listing
April 2006

Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype.

Prenat Diagn 2005 Nov;25(11):1048-56

Department of Pathology, University of Pittsburgh School of Medicine, Magee-Women's Hospital, Pittsburgh, PA 15213, USA.

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http://doi.wiley.com/10.1002/pd.1255
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November 2005

Loss of DNA copy number of 10q is associated with aggressive behavior of leiomyosarcomas: a comparative genomic hybridization study.

Cancer Genet Cytogenet 2005 Aug;161(1):20-7

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016546080500049
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http://dx.doi.org/10.1016/j.cancergencyto.2005.01.011DOI Listing
August 2005

Tetrasomy 9q in an infant with cleft palate and multiple anomalies.

Clin Dysmorphol 2005 Jul;14(3):145-7

Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449, USA.

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http://dx.doi.org/10.1097/00019605-200507000-00008DOI Listing
July 2005

A case of myelodysplastic syndrome with acquired monosomy 7 in a child with a constitutional t(1;19) and a mosaicism for trisomy 21.

Cancer Genet Cytogenet 2005 Jan;156(1):62-7

Pittsburgh Cytogenetics Laboratory, University of Pittsburgh Center for Human Genetics and Integrative Biology, Magee-Womens Hospital of UPMC Health System, 300 Halket Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.cancergencyto.2004.03.011DOI Listing
January 2005

Clinicopathologic, immunophenotypic, and molecular cytogenetic fluorescence in situ hybridization analysis of primary and secondary cutaneous follicular lymphomas.

Am J Surg Pathol 2005 Jan;29(1):69-82

Department of Pathology, Division of Hematopathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1097/01.pas.0000146015.22624.c7DOI Listing
January 2005

The clinical use of karyotyping spontaneous abortions.

Am J Obstet Gynecol 2003 Aug;189(2):397-400; discussion 400-2

Department of Genetics, Magee-Womens Hospital, University of Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1067/s0002-9378(03)00700-2DOI Listing
August 2003

Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: evidence of locus on chromosome 13q.

Kidney Int 2003 Jul;64(1):17-24

Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1046/j.1523-1755.2003.00066.xDOI Listing
July 2003

Primary and secondary cutaneous diffuse large B-cell lymphomas: a multiparameter analysis of 25 cases including fluorescence in situ hybridization for t(14;18) translocation.

Am J Surg Pathol 2003 Mar;27(3):356-64

Department of Pathology, Division of Hematopathology, University of Pittsburgh School of Medicine, 200 Lothrop Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1097/00000478-200303000-00009DOI Listing
March 2003