Create issue ticket

263 Possible Causes for TDD, gene

Show results in: Deutsch

  • Schindler Disease

    Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: International Advocate For Glycoprotein Storage Diseases[metrohealth.net] Southern and Northern hybridization analyses of DNA and RNA from the affected homozygotes revealed a grossly normal alpha-GalNAc gene structure and normal transcript sizes[ncbi.nlm.nih.gov] Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: NAGA ( 1 gene ) Coverage[fulgentgenetics.com]

  • Terminal 4q Deletion Syndrome

    (800)332-2373 Email: [email protected] Internet: The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD[metrohealth.net] […] containing gene) at 4q31.3, Aspartyl-glucosamine gene at 4q32-q33, Caspase-3 (Apoptosis-related cystiene peptidase) gene at 4q34, adenine nucleotide translocator at 4q35[ncbi.nlm.nih.gov] @yahoo.com Internet: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD[metrohealth.net]

  • Usher Syndrome Type I

    : (800) 683-5551 Phone: (410) 423-0600 Local TDD: (410) 363-7139 Email: [email protected] Alexander Graham Bell Association for the Deaf and Hard of Hearing 3417 Volta[mazornet.com] Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome. 2006 Wiley-Liss,[ncbi.nlm.nih.gov] The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1J

    : (800) 683-5551 Phone: (410) 423-0600 Local TDD: (410) 363-7139 Email: [email protected] Alexander Graham Bell Association for the Deaf and Hard of Hearing 3417 Volta[mazornet.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] Usher syndrome is caused by mutations in specific genes.[rarediseases.org]

  • Leber Congenital Amaurosis

    : 202-467-5085 Email: [email protected] Foundation Fighting Blindness 11435 Cronhill Drive Owings Mills MD 21117-2220 Phone: 800-683-5555 (toll-free); 800-683-5551 (toll-free TDD[ncbi.nlm.nih.gov] To date, 23 LCA genes have been identified. Gene replacement in the RPE65 form of LCA represents a major advance in treatment, although limitations have been recognized.[ncbi.nlm.nih.gov] One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65).[ncbi.nlm.nih.gov]

  • Pachyonychia Congenita

    […] pachyonychia.org Internet: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD[metrohealth.net] A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12–q21. J. med. Genet. 31 , 675–678 (1994). 8 Bowden, P.E., Stark, H.[doi.org] CONCLUSION: Many differentially-expressed genes identified in PC-involved skin encode components critical for skin barrier homeostasis including keratinocyte proliferation[ncbi.nlm.nih.gov]

  • Staphylococcus

    The type strains of M. equipercicus, M. caseolyticus, M. bovicus and M. carouselicus are ATTCC 51831T ( DD 9350T) ATCC 13548T ( TDD 4508T) (Schleifer et al. 1982, ATCC 51825T[ncbi.nlm.nih.gov] […] one or more genes.[doi.org] The type strains of M. equipercicus, M. caseolyticus, M. bovicus and M. carouselicus are ATCC 51831 T ( DD 9350 T ), ATCC 13548 T ( TDD 4508 T ) (Schleifer et al. 1982), ATCC[doi.org]

  • Fanconi Anemia

    […] netnet.net Internet: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD[web.archive.org] genes, coding for DNA repair enzymes [1].[ncbi.nlm.nih.gov] At the same time, genome editing constitutes the next generation of technology to further develop a safer, personalized, targeted gene therapy.[ncbi.nlm.nih.gov]

  • Pachyonychia Congenita, Type 2

    […] pachyonychia.org Internet: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD[metrohealth.net] The sequence of a type II keratin gene expressed in human skin: Conservation of structure among all intermediate filament genes . Proc. Natl. Acad. Sci.[nature.com] A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12–q21. J. med. Genet. 31 , 675–678 (1994). 8 Bowden, P.E., Stark, H.[nature.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome

    Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: MyFace 333 East 30th Street, Lobby Unit New York, NY 10016[metrohealth.net] The abnormalities in CS are caused by mutated CSA or CSB genes.[ncbi.nlm.nih.gov] […] netnet.net Internet: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD[healthmedicinet.com]

Further symptoms