Publications by authors named "Aleksandar Rajkovic"

100Publications

Cytogenetic signatures of recurrent pregnancy losses.

Prenat Diagn 2020 Oct 4. Epub 2020 Oct 4.

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

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http://dx.doi.org/10.1002/pd.5838DOI Listing
October 2020

Copy number alterations involving 59 ACMG-recommended secondary findings genes.

Clin Genet 2020 Oct 3. Epub 2020 Oct 3.

Department of Pathology, University of California San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1111/cge.13852DOI Listing
October 2020

Genetics of human female infertility†.

Biol Reprod 2019 09;101(3):549-566

Department of Pathology, University of California San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1093/biolre/ioz084DOI Listing
September 2019

A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.

Genet Med 2019 10 5;21(10):2275-2284. Epub 2019 Apr 5.

Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.

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http://www.nature.com/articles/s41436-019-0505-2
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http://dx.doi.org/10.1038/s41436-019-0505-2DOI Listing
October 2019

Cell-Free DNA Screening During Pregnancy.

JAMA 2019 01;321(3):308-309

University of California, San Francisco.

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http://dx.doi.org/10.1001/jama.2018.18648DOI Listing
January 2019

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.

J Assist Reprod Genet 2019 Jan 7;36(1):39-45. Epub 2018 Nov 7.

Department of Pathology, University of California, San Francisco, CA, 94143-0794, USA.

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http://dx.doi.org/10.1007/s10815-018-1349-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338598PMC
January 2019

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Sci Rep 2018 11 2;8(1):16280. Epub 2018 Nov 2.

Department of OBGYN and Reproductive Sciences, Magee-Womens Research Institute, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

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http://www.nature.com/articles/s41598-018-34262-5
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http://dx.doi.org/10.1038/s41598-018-34262-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214919PMC
November 2018

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

Chromosomal instability in women with primary ovarian insufficiency.

Hum Reprod 2018 03;33(3):531-538

Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, University of Pittsburgh, 300 Halket Street, Pittsburgh, PA 15213, USA.

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https://academic.oup.com/humrep/article/33/3/531/4841816
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http://dx.doi.org/10.1093/humrep/dey012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454535PMC
March 2018

Importance of complete phenotyping in prenatal whole exome sequencing.

Hum Genet 2018 Feb 1;137(2):175-181. Epub 2018 Feb 1.

Medical Genetics and Genomics Laboratories, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s00439-017-1860-1DOI Listing
February 2018

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.

Mol Genet Genomic Med 2018 03 24;6(2):276-281. Epub 2018 Jan 24.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1002/mgg3.345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902394PMC
March 2018

Med12 regulates ovarian steroidogenesis, uterine development and maternal effects in the mammalian egg.

Biol Reprod 2017 01;97(6):822-834

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1093/biolre/iox143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6248388PMC
January 2017

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

Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.

Endocr Rev 2018 02;39(1):1-20

Department of Obstetrics, Gynecology and Reproductive Medicine, Magee-Women's Research Institute, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1210/er.2017-00164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807095PMC
February 2018

Ovary as a Biomarker of Health and Longevity: Insights from Genetics.

Semin Reprod Med 2017 05 28;35(3):231-240. Epub 2017 Jun 28.

Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1055/s-0037-1603571DOI Listing
May 2017

Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.

J Clin Invest 2017 Jun 15;127(6):2106-2117. Epub 2017 May 15.

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

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http://dx.doi.org/10.1172/JCI90281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451230PMC
June 2017

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.

J Med Genet 2017 10 8;54(10):705-709. Epub 2017 May 8.

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104128DOI Listing
October 2017

Synchronous Bilateral Tubal Serous Carcinomas in a Patient With Exon 13 Duplication and Loss of Function of BRCA1.

Int J Gynecol Pathol 2018 Mar;37(2):117-122

Departments of Pathology, Division of Breast & Gynecologic Pathology (G.T.G., K.M.S., S.A.Y., R.B., E.E.) Obstetrics, Gynecology and Reproductive Sciences (S.A.Y., A.R., A.O.) Radiology (R.A.), University of Pittsburgh School of Medicine Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC (S.A.Y., A.R.) Magee-Women's Research Institute (MWRI) (A.R., A.O., R.B., E.E.) Department of Human Genetics and Cancer Genetics, University of Pittsburgh (A.R., N.J.C.), Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1097/PGP.0000000000000392DOI Listing
March 2018

Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause.

Semin Reprod Med 2017 03 9;35(2):147-159. Epub 2017 Mar 9.

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

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http://dx.doi.org/10.1055/s-0037-1599086DOI 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

A design thinking approach to primary ovarian insufficiency.

Panminerva Med 2017 Mar 9;59(1):15-32. Epub 2016 Nov 9.

Division of Intramural Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA -

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http://dx.doi.org/10.23736/S0031-0808.16.03259-6DOI Listing
March 2017

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

J Clin Endocrinol Metab 2017 02;102(2):576-582

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania 15213.

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http://dx.doi.org/10.1210/jc.2016-2565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413161PMC
February 2017

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.

Am J Med Genet A 2017 Jan 20;173(1):221-224. Epub 2016 Sep 20.

Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37981DOI Listing
January 2017

TAF4b Regulates Oocyte-Specific Genes Essential for Meiosis.

PLoS Genet 2016 06 24;12(6):e1006128. Epub 2016 Jun 24.

MCB Department, Brown University, Providence, Rhode Island, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920394PMC
June 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

Response to Sahoo et al.

Genet Med 2016 Mar 21;18(3):277. Epub 2016 Jan 21.

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

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http://dx.doi.org/10.1038/gim.2015.195DOI Listing
March 2016

Prenatal whole-exome sequencing: parental attitudes.

Prenat Diagn 2015 Oct 6;35(10):1030-6. Epub 2015 Jul 6.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1002/pd.4635DOI Listing
October 2015

Reproductive aging and MCM8/9.

Oncotarget 2015 Jun;6(18):15750-1

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599234PMC
http://dx.doi.org/10.18632/oncotarget.4589DOI Listing
June 2015

Lhx8 regulates primordial follicle activation and postnatal folliculogenesis.

BMC Biol 2015 Jun 16;13:39. Epub 2015 Jun 16.

Magee-Womens Research Institute, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, 15213, USA.

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http://dx.doi.org/10.1186/s12915-015-0151-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487509PMC
June 2015

X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.

N Engl J Med 2015 May 13;372(22):2097-107. Epub 2015 May 13.

From the Departments of Obstetrics, Gynecology, and Reproductive Sciences (A.N.Y., A.P.G., J.S., A. Rajkovic, S.A.Y.) and Urology (T.J.), University of Pittsburgh School of Medicine, and the Department of Biological Sciences, University of Pittsburgh, Kenneth P. Dietrich School of Arts and Sciences (A.J.B.) - all in Pittsburgh; the Institute of Human Genetics (A. Röpke, F.T.) and Center of Reproductive Medicine and Andrology (B.W., S.K., S.S.), University of Münster, Münster, Germany; and the Department of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Poznań (M.O., M.K.).

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http://dx.doi.org/10.1056/NEJMoa1406192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470617PMC
May 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

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.

Clin Case Rep 2015 Feb 15;3(2):92-5. Epub 2014 Oct 15.

Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center Pittsburgh, Pennsylvania ; Department of Pathology, University of Pittsburgh School of Medicine Pittsburgh, Pennsylvania ; Department of Human Genetics, University of Pittsburgh School of Medicine Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ccr3.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352360PMC
February 2015

Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.

Hum Reprod Update 2015 Sep-Oct;21(5):690-2. Epub 2015 Mar 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA Center for Fetal Medicine, Magee-Women's Research Institute, Pittsburgh, PA, USA

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https://academic.oup.com/humupd/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humupd/dmv015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296407PMC
October 2015

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.

Genet Med 2015 Oct 8;17(10):836-8. Epub 2015 Jan 8.

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

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http://dx.doi.org/10.1038/gim.2014.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496325PMC
October 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

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

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.

Case Rep Genet 2014 13;2014:517952. Epub 2014 Jul 13.

Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1155/2014/517952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120792PMC
August 2014

High quality RNA in semen and sperm: isolation, analysis and potential application in clinical testing.

J Urol 2015 Jan 1;193(1):352-9. Epub 2014 Aug 1.

Department of Obstetrics, Gynecology and Reproductive Sciences, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Pathology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.juro.2014.07.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382362PMC
January 2015

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.

Am J Med Genet A 2014 Oct 29;164A(10):2623-6. Epub 2014 Jul 29.

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.36627DOI Listing
October 2014

High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm.

Prenat Diagn 2014 May 27;34(5):469-77. Epub 2014 Feb 27.

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA; Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1002/pd.4331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266320PMC
May 2014

Spermatogonial SOHLH1 nucleocytoplasmic shuttling associates with initiation of spermatogenesis in the rhesus monkey (Macaca mulatta).

Mol Hum Reprod 2014 Apr 9;20(4):350-7. Epub 2013 Dec 9.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1093/molehr/gat093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969541PMC
April 2014

The transition from stem cell to progenitor spermatogonia and male fertility requires the SHP2 protein tyrosine phosphatase.

Stem Cells 2014 Mar;32(3):741-53

Department of Obstetrics, Gynecology and Reproductive Sciences, Center for Research in Reproductive Physiology, Magee Women's Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://doi.wiley.com/10.1002/stem.1572
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http://dx.doi.org/10.1002/stem.1572DOI Listing
March 2014

Genomic markers of ovarian reserve.

Semin Reprod Med 2013 Nov 7;31(6):399-415. Epub 2013 Oct 7.

Department of Obstetrics, Gynecology, and Reproductive Sciences.

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http://dx.doi.org/10.1055/s-0033-1356476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043392PMC
November 2013

Mouse HORMAD1 is a meiosis i checkpoint protein that modulates DNA double- strand break repair during female meiosis.

Biol Reprod 2013 Aug;89(2):29

Magee-Womens Research Institute, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1095/biolreprod.112.106773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076362PMC
August 2013

Granulocyte colony-stimulating factor with or without stem cell factor extends time to premature ovarian insufficiency in female mice treated with alkylating chemotherapy.

Fertil Steril 2013 Jun 26;99(7):2045-54.e3. Epub 2013 Feb 26.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania 15213, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00150282130019
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http://dx.doi.org/10.1016/j.fertnstert.2013.01.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672312PMC
June 2013

Generation of a germ cell-specific mouse transgenic CHERRY reporter, Sohlh1-mCherryFlag.

Genesis 2013 Jan 3;51(1):50-8. Epub 2012 Nov 3.

Magee-Womens Research Institute, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1002/dvg.22347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547139PMC
January 2013

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

SOHLH1 and SOHLH2 coordinate spermatogonial differentiation.

Dev Biol 2012 Jan 26;361(2):301-12. Epub 2011 Oct 26.

Magee-Womens Research Institute, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S001216061101333
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249242PMC
http://dx.doi.org/10.1016/j.ydbio.2011.10.027DOI Listing
January 2012

Oogenesis: transcriptional regulators and mouse models.

Mol Cell Endocrinol 2012 Jun 12;356(1-2):31-9. Epub 2011 Aug 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.mce.2011.07.049DOI Listing
June 2012

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

Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.

Fertil Steril 2011 Apr 22;95(5):1595-600. Epub 2011 Jan 22.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2010.12.052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062633PMC
April 2011

Body size phenotypes and inflammation in the Women's Health Initiative Observational Study.

Obesity (Silver Spring) 2011 Jul 13;19(7):1482-91. Epub 2011 Jan 13.

Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1038/oby.2010.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124587PMC
July 2011

The oocyte-specific transcription factor, Nobox, regulates the expression of Pad6, a peptidylarginine deiminase in the oocyte.

FEBS Lett 2010 Aug 24;584(16):3629-34. Epub 2010 Jul 24.

Department of Biomedical Science, CHA University, Seoul 135-081, Republic of Korea.

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http://dx.doi.org/10.1016/j.febslet.2010.07.037DOI Listing
August 2010

MicroRNA transcriptome in the newborn mouse ovaries determined by massive parallel sequencing.

Mol Hum Reprod 2010 Jul 9;16(7):463-71. Epub 2010 Mar 9.

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1093/molehr/gaq017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882868PMC
July 2010

A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.

Nat Genet 2010 Mar 24;42(3):224-8. Epub 2010 Jan 24.

Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/ng.522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853179PMC
March 2010

Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.

Nat Genet 2009 Sep 2;41(9):986-90. Epub 2009 Aug 2.

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http://dx.doi.org/10.1038/ng.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839871PMC
September 2009

Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays.

Mol Hum Reprod 2009 Sep 30;15(9):563-8. Epub 2009 Jun 30.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/molehr/gap050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725754PMC
September 2009

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

Authors:
Shahana Ahmed Gilles Thomas Maya Ghoussaini Catherine S Healey Manjeet K Humphreys Radka Platte Jonathan Morrison Melanie Maranian Karen A Pooley Robert Luben Diana Eccles D Gareth Evans Olivia Fletcher Nichola Johnson Isabel dos Santos Silva Julian Peto Michael R Stratton Nazneen Rahman Kevin Jacobs Ross Prentice Garnet L Anderson Aleksandar Rajkovic J David Curb Regina G Ziegler Christine D Berg Saundra S Buys Catherine A McCarty Heather Spencer Feigelson Eugenia E Calle Michael J Thun W Ryan Diver Stig Bojesen Børge G Nordestgaard Henrik Flyger Thilo Dörk Peter Schürmann Peter Hillemanns Johann H Karstens Natalia V Bogdanova Natalia N Antonenkova Iosif V Zalutsky Marina Bermisheva Sardana Fedorova Elza Khusnutdinova Daehee Kang Keun-Young Yoo Dong Young Noh Sei-Hyun Ahn Peter Devilee Christi J van Asperen R A E M Tollenaar Caroline Seynaeve Montserrat Garcia-Closas Jolanta Lissowska Louise Brinton Beata Peplonska Heli Nevanlinna Tuomas Heikkinen Kristiina Aittomäki Carl Blomqvist John L Hopper Melissa C Southey Letitia Smith Amanda B Spurdle Marjanka K Schmidt Annegien Broeks Richard R van Hien Sten Cornelissen Roger L Milne Gloria Ribas Anna González-Neira Javier Benitez Rita K Schmutzler Barbara Burwinkel Claus R Bartram Alfons Meindl Hiltrud Brauch Christina Justenhoven Ute Hamann Jenny Chang-Claude Rebecca Hein Shan Wang-Gohrke Annika Lindblom Sara Margolin Arto Mannermaa Veli-Matti Kosma Vesa Kataja Janet E Olson Xianshu Wang Zachary Fredericksen Graham G Giles Gianluca Severi Laura Baglietto Dallas R English Susan E Hankinson David G Cox Peter Kraft Lars J Vatten Kristian Hveem Merethe Kumle Alice Sigurdson Michele Doody Parveen Bhatti Bruce H Alexander Maartje J Hooning Ans M W van den Ouweland Rogier A Oldenburg Mieke Schutte Per Hall Kamila Czene Jianjun Liu Yuqing Li Angela Cox Graeme Elliott Ian Brock Malcolm W R Reed Chen-Yang Shen Jyh-Cherng Yu Giu-Cheng Hsu Shou-Tung Chen Hoda Anton-Culver Argyrios Ziogas Irene L Andrulis Julia A Knight Jonathan Beesley Ellen L Goode Fergus Couch Georgia Chenevix-Trench Robert N Hoover Bruce A J Ponder David J Hunter Paul D P Pharoah Alison M Dunning Stephen J Chanock Douglas F Easton

Nat Genet 2009 May 29;41(5):585-90. Epub 2009 Mar 29.

Department of Oncology, University of Cambridge, UK.

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http://dx.doi.org/10.1038/ng.354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748125PMC
May 2009

MicroRNAs and mammalian ovarian development.

Semin Reprod Med 2008 Nov 24;26(6):461-8. Epub 2008 Oct 24.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1055/s-0028-1096126DOI Listing
November 2008

Germ cell-specific transcriptional regulator sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expression.

Biol Reprod 2008 Dec 27;79(6):1176-82. Epub 2008 Aug 27.

Fertility Center of CHA General Hospital, CHA Research Institute, Pochon CHA University, Seoul 135-081, Republic of Korea.

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http://dx.doi.org/10.1095/biolreprod.108.071217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780471PMC
December 2008

Placenta percreta at 7th week of pregnancy in a woman with previous caesarean section.

J Obstet Gynaecol 2008 Apr;28(3):338-40

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1080/01443610802047828DOI Listing
April 2008

Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival.

Biol Reprod 2008 Sep 28;79(3):442-9. Epub 2008 May 28.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1095/biolreprod.108.069393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710541PMC
September 2008

NOBOX homeobox mutation causes premature ovarian failure.

Am J Hum Genet 2007 Sep 10;81(3):576-81. Epub 2007 Jul 10.

Center for Reproductive Medicine, Shandong Provincial Hospital of Shandong University, Jinan, China.

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http://dx.doi.org/10.1086/519496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950834PMC
September 2007

Analysis of TATA-binding protein 2 (TBP2) and TBP expression suggests different roles for the two proteins in regulation of gene expression during oogenesis and early mouse development.

Reproduction 2007 Jul;134(1):51-62

Institut de Génétique et de Biologie Moléculaire et Cellulaire, UMR 7104, CNRS, INSERM, ULP, BP 10142, CU de Strasbourg, 67404 Illkirch Cedex, France.

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https://rep.bioscientifica.com/view/journals/rep/134/1/13400
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http://dx.doi.org/10.1530/REP-06-0337DOI Listing
July 2007

Analysis of LHX8 mutation in premature ovarian failure.

Fertil Steril 2008 Apr 10;89(4):1012-4. Epub 2007 Jul 10.

Center for Reproductive Medicine, Shandong Provincial Hospital of Shandong University, Jinan, China.

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http://dx.doi.org/10.1016/j.fertnstert.2007.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680741PMC
April 2008

Genetics of ovarian failure and development.

Semin Reprod Med 2007 Jul;25(4):223-4

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1055/s-2007-980215DOI Listing
July 2007