selected publications
- Prevalence of spinal meningeal diverticula in autosomal dominant polycystic kidney disease. AJNR. American journal of neuroradiology. 2024 Academic Article GET IT
- Improved predictions of total kidney volume growth rate in ADPKD using two-parameter least squares fitting. Scientific reports. 2024 Academic Article GET IT
- Evaluation of the rapid Idylla IDH1-2 mutation assay in FFPE glioma samples. Diagnostic pathology. 2024 Academic Article GET IT
- Quantitative susceptibility mapping for detection of kidney stones, hemorrhage differentiation, and cyst classification in ADPKD. Abdominal radiology (New York). 2024 Academic Article GET IT
- Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection. The Journal of molecular diagnostics : JMD. 2023 Academic Article GET IT
- Pleural Effusions on MRI in Autosomal Dominant Polycystic Kidney Disease. Journal of clinical medicine. 2023 Academic Article GET IT
- A Common Intronic Single Nucleotide Variant Modifies PKD1 Expression Level. Clinical genetics. 2022 Academic Article GET IT
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Rapid detection of SARS-CoV-2 variants of concern by single nucleotide polymorphism genotyping using TaqMan assays.
Diagnostic microbiology and infectious disease.
2022
Academic Article
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Times cited: 3 -
Pericardial Effusion on MRI in Autosomal Dominant Polycystic Kidney Disease.
Journal of clinical medicine.
2022
Academic Article
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Times cited: 12 -
Deployed Deep Learning Kidney Segmentation for Polycystic Kidney Disease MRI.
Radiology. Artificial intelligence.
2022
Academic Article
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Times cited: 27 -
System-wide transcriptome damage and tissue identity loss in COVID-19 patients.
Cell reports. Medicine.
2022
Academic Article
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Times cited: 25 -
Combining molecular testing and the Bethesda category III:VI ratio for thyroid fine-needle aspirates: A quality-assurance metric for evaluating diagnostic performance in a cytopathology laboratory.
Cancer cytopathology.
2021
Academic Article
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Times cited: 1 -
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
Journal of the American Society of Nephrology : JASN.
2021
Academic Article
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Times cited: 13 -
Adenovirus viremia after in vivo T-cell depleted allo-transplant in adults: low lymphocyte counts are associated with uncontrolled viremia and fatal outcomes.
Leukemia & lymphoma.
2021
Academic Article
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Times cited: 1 -
Performance Evaluation of the MatMaCorp COVID-19 2SF Assay for the Detection of SARS-CoV-2 from Nasopharyngeal Swabs.
Microbiology spectrum.
2021
Academic Article
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Times cited: 2 - A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee. The Journal of molecular diagnostics : JMD. 2021 Information Resource GET IT
- Next-Generation Sequencing of Cell-Free DNA Extracted From Pleural Effusion Supernatant: Applications and Challenges. Frontiers in medicine. 2021 Academic Article GET IT
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Early introductions and transmission of SARS-CoV-2 variant B.1.1.7 in the United States.
Cell.
2021
Academic Article
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Times cited: 71 -
Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions.
Nature communications.
2021
Academic Article
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Times cited: 89 -
Rapid Implementation of Severe Acute Respiratory Syndrome Coronavirus 2 Emergency Use Authorization RT-PCR Testing and Experience at an Academic Medical Institution.
The Journal of molecular diagnostics : JMD.
2020
Academic Article
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Times cited: 3 -
Performance Characteristics of a Targeted Sequencing Platform for Simultaneous Detection of Single Nucleotide Variants, Insertions/Deletions, Copy Number Alterations, and Gene Fusions in Cancer Genome.
Archives of pathology & laboratory medicine.
2020
Academic Article
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Times cited: 1 - Prevalence of Inferior Vena Cava Compression in ADPKD. Kidney international reports. 2020 Academic Article GET IT
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Hemorrhagic Cysts and Other MR Biomarkers for Predicting Renal Dysfunction Progression in Autosomal Dominant Polycystic Kidney Disease.
Journal of magnetic resonance imaging : JMRI.
2020
Academic Article
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Times cited: 2 -
Clinical Performance of SARS-CoV-2 Molecular Tests.
Journal of clinical microbiology.
2020
Academic Article
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Times cited: 72 -
Comparison of Two High-Throughput Reverse Transcription-PCR Systems for the Detection of Severe Acute Respiratory Syndrome Coronavirus 2.
Journal of clinical microbiology.
2020
Academic Article
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Times cited: 46 -
Safety, tolerability, and clinical outcomes of hydroxychloroquine for hospitalized patients with coronavirus 2019 disease.
PloS one.
2020
Academic Article
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Times cited: 16 -
Preanalytic variables in quality and quantity of nucleic acids extracted from FNA specimens of thyroid gland nodules collected in CytoLyt: Cellularity and storage time.
Cancer cytopathology.
2020
Academic Article
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Times cited: 3 -
Spleen phenotype in autosomal dominant polycystic kidney disease.
Clinical radiology.
2019
Academic Article
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Times cited: 3 -
Integrative Molecular Analysis of Patients With Advanced and Metastatic Cancer.
JCO precision oncology.
2019
Academic Article
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Times cited: 33 -
Prophylactic rituximab prevents EBV PTLD in haplo-cord transplant recipients at high risk.
Leukemia & lymphoma.
2019
Academic Article
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Times cited: 11 -
Relationship of Seminal Megavesicles, Prostate Median Cysts, and Genotype in Autosomal Dominant Polycystic Kidney Disease.
Journal of magnetic resonance imaging : JMRI.
2018
Academic Article
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Times cited: 2 -
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN.
2018
Academic Article
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Times cited: 47 -
Evaluation of a human adenovirus viral load assay using the Altona RealStar® PCR test.
Diagnostic microbiology and infectious disease.
2017
Academic Article
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Times cited: 2 -
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.
Journal of the American Medical Informatics Association : JAMIA.
2017
Academic Article
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Times cited: 81 -
Accuracy of next-generation sequencing for the identification of clinically relevant variants in cytology smears in lung adenocarcinoma.
Cancer cytopathology.
2017
Academic Article
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Times cited: 22 -
Immunohistochemistry Improves the Detection of Adenovirus in Gastrointestinal Biopsy Specimens From Hematopoietic Stem Cell Transplant Recipients.
American journal of clinical pathology.
2016
Academic Article
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Times cited: 6 -
Haplo-cord transplant: HLA-matching determines graft dominance.
Leukemia & lymphoma.
2016
Letter
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Times cited: 9 -
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.
NPJ genomic medicine.
2016
Academic Article
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Times cited: 66 -
Cord blood chimerism and relapse after haplo-cord transplantation.
Leukemia & lymphoma.
2016
Academic Article
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Times cited: 19 -
Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
Radiology.
2016
Academic Article
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Times cited: 39 - Development of a BK virus real-time quantitative assay using the bioMérieux analyte-specific reagents in plasma specimens. American journal of clinical pathology. 2015 Academic Article GET IT
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Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.
JAMA oncology.
2015
Academic Article
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Times cited: 230 -
How we handled the dextran shortage: an alternative washing or dilution solution for cord blood infusions.
Transfusion.
2015
Academic Article
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Times cited: 14 -
Development and validation of a whole genome amplification long-range PCR sequencing method for ADPKD genotyping of low-level DNA samples.
Gene.
2014
Academic Article
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Times cited: 6 -
Urine microRNA as potential biomarkers of autosomal dominant polycystic kidney disease progression: description of miRNA profiles at baseline.
PloS one.
2014
Academic Article
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Times cited: 85 -
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
The Journal of molecular diagnostics : JMD.
2013
Academic Article
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Times cited: 59 -
IL28B polymorphism, pretreatment CXCL10, and HCV RNA levels predict treatment response in racially diverse HIV/HCV coinfected and HCV monoinfected patients.
Journal of acquired immune deficiency syndromes (1999).
2013
Academic Article
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Times cited: 7 -
Avoiding pitfalls in bone marrow engraftment analysis: a case study highlighting the weakness of using buccal cells for determining a patient's constitutional genotype after hematopoietic stem cell transplantation.
Cytotherapy.
2012
Academic Article
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Times cited: 8 -
Pharmacogenomics and the future of toxicology testing.
Clinics in laboratory medicine.
2012
Information Resource
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Times cited: 2 -
A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.
The Journal of molecular diagnostics : JMD.
2012
Academic Article
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Times cited: 43 -
Evaluation of a BK virus viral load assay using the QIAGEN Artus BK Virus RG PCR test.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.
2012
Academic Article
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Times cited: 14 -
Comparison of Real-time PCR to ELISA for the detection of human cytomegalovirus infection in renal transplant patients in the Sudan.
Virology journal.
2011
Academic Article
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Times cited: 14 -
Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.
Biochimica et biophysica acta.
2011
Information Resource
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Times cited: 49 -
Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2011
Academic Article
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Times cited: 39 -
Performance of the COBAS® AmpliPrep/COBAS TaqMan® automated system for hepatitis C virus (HCV) quantification in a multi-center comparison.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.
2010
Academic Article
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Times cited: 12 -
Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma.
The American journal of surgical pathology.
2010
Academic Article
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Times cited: 82 -
Clinical, pathologic, and molecular features of early-onset colorectal carcinoma.
The American journal of surgical pathology.
2009
Academic Article
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Times cited: 121 -
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Human mutation.
2009
Academic Article
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Times cited: 53 -
Joint effects of inflammation and androgen metabolism on prostate cancer severity.
International journal of cancer.
2008
Academic Article
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Times cited: 18 -
Common 8q24 sequence variations are associated with Asian Indian advanced prostate cancer risk.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2008
Academic Article
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Times cited: 30 -
Evaluation of prostate cancer characteristics in four populations worldwide.
The Canadian journal of urology.
2008
Academic Article
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Times cited: 61 -
Analysis of the RNASEL/HPC1, and macrophage scavenger receptor 1 in Asian-Indian advanced prostate cancer.
Urology.
2008
Academic Article
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Times cited: 12 -
Genetic susceptibility to prostate cancer in men of African descent: implications for global disparities in incidence and outcomes.
The Canadian journal of urology.
2008
Information Resource
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Times cited: 39 -
A comprehensive study of nondysplastic and dysplastic serrated polyps of the vermiform appendix.
The American journal of surgical pathology.
2007
Academic Article
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Times cited: 38 -
Incidence and risk factors for weight loss during dual HIV/hepatitis C virus therapy.
Journal of acquired immune deficiency syndromes (1999).
2007
Academic Article
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Times cited: 14 -
An alternative spliced RNASEL variant in peripheral blood leukocytes.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research.
2006
Academic Article
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Times cited: 5 -
RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2006
Academic Article
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Times cited: 20 -
Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
Prenatal diagnosis.
2005
Academic Article
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Times cited: 6 -
SMN1 dosage analysis in spinal muscular atrophy from India.
BMC medical genetics.
2005
Academic Article
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Times cited: 5 -
Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2005
Academic Article
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Times cited: 73 -
Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practice.
The Journal of molecular diagnostics : JMD.
2003
Academic Article
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Times cited: 41 -
Combined cytogenetic and array-based comparative genomic hybridization analyses of Wilms tumors: amplification and overexpression of the multidrug resistance associated protein 1 gene (MRP1) in a metachronous tumor.
Cancer genetics and cytogenetics.
2003
Academic Article
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Times cited: 12 - A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews. American journal of human genetics. 2002 Academic Article GET IT
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Genetic risk assessment in carrier testing for spinal muscular atrophy.
American journal of medical genetics.
2002
Academic Article
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Times cited: 119 -
Spinal muscular atrophy genetic testing experience at an academic medical center.
The Journal of molecular diagnostics : JMD.
2002
Academic Article
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Times cited: 40 -
Heteroduplex formation in SMN gene dosage analysis.
The Journal of molecular diagnostics : JMD.
2001
Academic Article
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Times cited: 15 -
Population colorectal cancer screening with fecal occult blood test.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
2001
Academic Article
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Times cited: 37 -
Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology.
2001
Academic Article
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Times cited: 43 -
Evidence for early hematopoietic progenitor cell involvement in acute promyelocytic leukemia.
American journal of clinical pathology.
1999
Academic Article
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Times cited: 34 - A novel, non-nested reverse-transcriptase polymerase chain reaction (RT-PCR) test for the detection of the t(15;17) translocation: a comparative study of RT-PCR cytogenetics, and fluorescence In situ hybridization. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. 1999 Academic Article GET IT
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Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy.
American journal of medical genetics.
1999
Academic Article
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Times cited: 56 - Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. 1996 Academic Article GET IT
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The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2).
Genomics.
1994
Academic Article
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Times cited: 63 -
The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA.
DNA and cell biology.
1992
Academic Article
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Times cited: 32 -
Regulated expression of sterol carrier protein 2 in the ovary: a key role for cyclic AMP.
Biochemistry.
1991
Academic Article
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Times cited: 44 -
Cloning and expression of a cDNA encoding human sterol carrier protein 2.
Proceedings of the National Academy of Sciences of the United States of America.
1991
Academic Article
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Times cited: 120 -
A cDNA encoding a rat mitochondrial cytochrome P450 catalyzing both the 26-hydroxylation of cholesterol and 25-hydroxylation of vitamin D3: gonadotropic regulation of the cognate mRNA in ovaries.
DNA and cell biology.
1990
Academic Article
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Times cited: 102 -
Generation of regulatory oxysterols: 26-hydroxylation of cholesterol by ovarian mitochondria.
Endocrinology.
1990
Academic Article
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Times cited: 37 -
Lack of effect by prostaglandin F2 alpha and verapamil on calcium uptake by isolated corpora lutea from pseudopregnant rats.
Biochemical pharmacology.
1989
Academic Article
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Times cited: 2 -
Mechanism of the luteolytic action of prostaglandin F-2 alpha in the rat.
Journal of reproduction and fertility. Supplement.
1989
Academic Article
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Times cited: 29 - Calmodulin inhibitors and 8-(N,N-diethylamino)-octyl-3,4,5-trimethoxybenzoate do not prevent the inhibitory effect of prostaglandin F2 alpha on cyclic AMP production in isolated rat corpora lutea. The Journal of endocrinology. 1987 Academic Article GET IT
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Inhibition by vanadate of cyclic AMP production in rat corpora lutea incubated in vitro.
Life sciences.
1986
Academic Article
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Times cited: 6