119 top medical experts on Frasier Syndrome across 11 countries and 2 U.S. states, including 11 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Frasier Syndrome: A syndrome characterized by chronic kidney failure and gonadal dysgenesis in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (genes, wilms tumor) on chromosome 11.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Genetic Diseases (2,477), 46,XY Disorder of Sex Development (1,750), Chronic Kidney Failure (5,267).
  4. Clinical Trials ClinicalTrials.gov : at least 2 including 1 Completed, 1 Recruiting


  

        

                    


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  1. Carney, Thomas J   Google Publications
    Max-Planck Institute of Immunobiology, Georges-Koehler-Laboratory, Freiburg, Germany.
    Scientist 
    Subjects: Embryo, Nonmammalian; Extracellular Matrix Proteins; Furin; Mutation; Proprotein Convertases
    Categories: Genetics; Embryology; Metabolism
    Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. (2010)

  2. Hammerschmidt, Matthias  Google Publications
    Scientist 
    Subjects: Embryo, Nonmammalian; Extracellular Matrix Proteins; Furin; Mutation; Proprotein Convertases
    Categories: Genetics; Embryology; Metabolism
    Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. (2010)

  3. Bagga, Arvind    Google Publications
    Physician  Case Reports 
    Subjects: Cyclosporine; Gonadoblastoma; Immunosuppressive Agents
    Categories: Therapeutic Use; Complications; Drug Therapy; Genetics
    Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (2010)

  4. Welch, Thomas R   Pediatric Nephrology  Google Publications
    Division of Nephrology.
    Physician 
    Disclosed payments from biomedical company (ABIOMED) in 2021 for $85.5
    Subjects: Denys-Drash Syndrome; Genes, Wilms Tumor; Pediatrics
    Categories: History; Physiology
    50 Years Ago in TheJournal ofPediatrics: Fifty Years from Syndrome to Gene. (2021)

  5. Ovunc, Bugsu   Pediatric Pulmonology  Google Publications
    Physician 
    Disclosed payments in 2021 from 14 biomedical companies, totalling $321.39, including $84.47 from  GlaxoSmithKline, LLC.
    Subjects: Genes, Wilms Tumor; Gonadoblastoma; Kidney Failure, Chronic; Kidney Neoplasms; Mutation
    Categories: Genetics
    Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. (2010)

  6. Chernin, Gil  Google Publications
    Departments of Pediatrics, University of Michigan Health System, Ann Arbor, MI 48109-5646, USA.
    Scientist 
    Subjects: Genes, Wilms Tumor; Gonadoblastoma; Kidney Failure, Chronic; Kidney Neoplasms; Mutation
    Categories: Genetics
    Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. (2010)

  7. Ezaki, Jiro  Google Publications
    Department of Pathology, Faculty of Medicine, Tokyo Womens Medical University, Tokyo, Japan.
    Scientist  Case Reports 
    Subjects: Neoplasms, Germ Cell and Embryonal; Gonadoblastoma; Gonads; Ovarian Neoplasms; WT1 Proteins
    Categories: Diagnostic Imaging; Classification; Complications; Etiology; Genetics; Pathology
    Gonadal tumor in Frasier syndrome: a review and classification. (2015)
    Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. (2017)

  8. Hashimoto, Kazunori   Google Publications
    Department of Obstetrics and Gynecology, Faculty of Medicine, Tokyo Womens Medical University, Tokyo, Japan .
    Scientist  Case Reports 
    Subjects: Neoplasms, Germ Cell and Embryonal; Gonadoblastoma; Gonads; Ovarian Neoplasms; WT1 Proteins
    Categories: Diagnostic Imaging; Classification; Complications; Etiology; Genetics; Pathology
    Gonadal tumor in Frasier syndrome: a review and classification. (2015)
    Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. (2017)

  9. Shibata, Noriyuki   Google Publications
    Department of Pathology, Faculty of Medicine, Tokyo Womens Medical University, Tokyo, Japan.
    Scientist  Case Reports 
    Subjects: Neoplasms, Germ Cell and Embryonal; Gonadoblastoma; Gonads; Ovarian Neoplasms; WT1 Proteins
    Categories: Diagnostic Imaging; Classification; Complications; Etiology; Genetics; Pathology
    Gonadal tumor in Frasier syndrome: a review and classification. (2015)
    Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. (2017)

  10. Kanavakis, Emmanuel  Google Publications
    Scientist  Case Reports 
    Subjects: Gonadoblastoma; Sertoli Cell Tumor; WT1 Proteins
    Categories: Genetics
    Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation. (2012)

  11. Kitsiou-Tzeli, Sophia  Google Publications
    Department of Medical Genetics, Medical School, University of Athens, Aghia Sophia Childrens Hospital, Athens, Greece.
    Scientist  Case Reports 
    Subjects: Gonadoblastoma; Sertoli Cell Tumor; WT1 Proteins
    Categories: Genetics
    Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation. (2012)

  12. Matsuoka, Daisuke  Google Publications
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
    Scientist  Case Reports 
    Subjects: Antigen-Antibody Complex; Glomerulonephritis, Membranoproliferative; Glomerulosclerosis, Focal Segmental; Kidney
    Categories: Pathology
    Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature. (2020)

  13. Nozu, Kandai    Google Publications
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
    Physician  Case Reports 
    Subjects: Antigen-Antibody Complex; Glomerulonephritis, Membranoproliferative; Glomerulosclerosis, Focal Segmental; Kidney
    Categories: Pathology
    Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature. (2020)

  14. Tsukaguchi, Hiroyasu   Google Publications
    Second Department of Internal Medicine, Division of Nephrology, Kansai Medical University, 2-5-1 Shinmachi Hirakata, Osaka, 573-1191, Japan. .
    Scientist  Case Reports 
    Subjects: Antigen-Antibody Complex; Glomerulonephritis, Membranoproliferative; Glomerulosclerosis, Focal Segmental; Kidney
    Categories: Pathology
    Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature. (2020)

  15. Agarwala, Sandeep    Google Publications
    Physician  Case Reports 
    Subjects: Cyclosporine; Gonadoblastoma; Immunosuppressive Agents
    Categories: Therapeutic Use; Complications; Drug Therapy; Genetics
    Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (2010)

  16. Hari, Pankaj    Google Publications
    Physician  Case Reports 
    Subjects: Cyclosporine; Gonadoblastoma; Immunosuppressive Agents
    Categories: Therapeutic Use; Complications; Drug Therapy; Genetics
    Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (2010)

  17. Zhao, Feng   Google Publications
    Scientist 
    Medical school: Other (MD, 1982)
    Medicare Accepted
    Disclosed payments in 2021 from 7 biomedical companies, totalling $146.59, including $57.59 from  Novartis Pharmaceuticals Corporation
    Subjects: Denys-Drash Syndrome; Kidney Failure, Chronic; Nephrotic Syndrome; WT1 Proteins
    Categories: Genetics
    Patients with different or identical genotypes of the WT1 gene present different phenotypes. (2013)

  18. Bache, Manon  Google Publications
    Nephrology Dialysis Children Unit, University Hospital, Avenue Molière, 67098 Strasbourg Cedex, France.
    Scientist  Case Reports 
    Subjects: Kidney Failure, Chronic
    Categories: Complications; Etiology
    Frasier syndrome, a potential cause of end-stage renal failure in childhood. (2010)

  19. Fischbach, Michel  Google Publications
    Scientist  Case Reports 
    Subjects: Kidney Failure, Chronic
    Categories: Complications; Etiology
    Frasier syndrome, a potential cause of end-stage renal failure in childhood. (2010)

  20. Sinha, Aditi  Google Publications
    Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
    Scientist  Case Reports 
    Subjects: Cyclosporine; Gonadoblastoma; Immunosuppressive Agents
    Categories: Therapeutic Use; Complications; Drug Therapy; Genetics
    Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (2010)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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