telangiectasia वाक्य
उदाहरण वाक्य
मोबाइल
- Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.
- In humans endoglin may be involved in the autosomal dominant disorder known as hereditary hemorrhagic telangiectasia ( HHT ) type 1.
- CHD4 has been shown to interact with HDAC1, Histone deacetylase 2, MTA2, and Ataxia telangiectasia and Rad3 related.
- Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.
- The defect also causes a rare and fatal childhood disease called AT ( ataxia telangiectasia ), which affects neurological and immune function.
- The inherited neurological disorders Machado Joseph disease, ataxia telangiectasia, and Friedreich's ataxia cause progressive neurodegeneration linked to cerebellar loss.
- Macular telangiectasia describes two distinct retinal diseases affecting the macula of the eye, macular telangiectasia type 1 and macular telangiectasia type 2.
- Macular telangiectasia describes two distinct retinal diseases affecting the macula of the eye, macular telangiectasia type 1 and macular telangiectasia type 2.
- Macular telangiectasia describes two distinct retinal diseases affecting the macula of the eye, macular telangiectasia type 1 and macular telangiectasia type 2.
- One of Charves's daughters has ataxia telangiectasia, a deadly genetic disease that afflicts only about 650 children in the United States.
- Although infantile hemangiomas spontaneously regress over time, some may leave residual redundant fibrofatty tissue, scar, residual telangiectasia, or pigmentary changes.
- Macular telangiectasia type 2 usually present first between the ages of 50 and 60 years, with a mean age of 55 59 years.
- These are ataxia with oculomotor apraxia type 1 ( AOA1 ), ataxia with oculomotor apraxia 2 ( AOA2 ), and ataxia telangiectasia.
- Ataxia telangiectasia ( AT ) is a rare human disease characterized by cerebellar degeneration, extreme cellular sensitivity to radiation and a predisposition to cancer.
- For instance two dominant-negative germ line mutations were identified in the Ataxia telangiectasia mutated ( ATM ) gene which increases susceptibility to breast cancer.
- Even though ataxia telangiectasia is an autosomal recessive disorder, people who are heterozygotes for this still have an increased risk of developing a lymphoproliferative disorder.
- Mutations in ATR are responsible for Seckel syndrome, a rare human disorder that shares some characteristics with ataxia telangiectasia, which results from ATM mutation.
- In the presence of ionizing radiation ( IR ), the Smc1 subunit of cohesin is phosphorylated by the ataxia telangiectasia mutated ( ATM ) kinase.
- These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.
- Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and, although not all, some patients show head thrusts,.
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