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Results 1 - 10 of 13 for Diagnostic imaging
  1. How are genetic conditions diagnosed?: MedlinePlus Genetics 
    ... rays, computerized tomography (CT) scans, or magnetic resonance imaging (MRI) to ... a genetic diagnosis. A personal medical history includes past health issues, ...
    https://medlineplus.gov/genetics/understanding/consult/diagnosis - Genetics
  2. Pelizaeus-Merzbacher disease 
    ... Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. ... atrophy on cerebral imaging in 35 patients with PLP1-related disorders. Dev ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  3. Loeys-Dietz syndrome 
    ... A. Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatr Radiol. 2011 Dec;41(12):1495- ... HC 3rd. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014 Aug;16(8): ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  4. Lennox-Gastaut syndrome 
    ... Lennox-Gastaut syndrome: effects of incorporating MRI head imaging in defining the cryptogenic subgroup. Epilepsia. 2000 Apr; ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  5. Miyoshi myopathy 
    ... de Visser M. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. Neuromuscul ...
    https://medlineplus.gov/genetics/condition/miyoshi-myopathy - Genetics
  6. Fucosidosis 
    ... Balestri P, Cerase A, Federico A. MR brain imaging of fucosidosis type I. AJNR Am J Neuroradiol. ... Dhaliwal AS, Raynes H, Naidich TP, Kaufman DM. Diagnosis and Supportive Management of Fucosidosis: A Case Report. ...
    https://medlineplus.gov/genetics/condition/fucosidosis - Genetics
  7. Polycystic ovary syndrome 
    ... follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are ... depending on the criteria used to make the diagnosis, but it is often reported to effect 6 ...
    https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome - Genetics
  8. Gyrate atrophy of the choroid and retina 
    ... intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild ... R, Olpin SE, Besley GT. Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation. J Inherit Metab Dis. ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  9. Primary spontaneous pneumothorax 
    ... any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more ... Marquette CH, Cardillo G. ERS task force statement: diagnosis and treatment of primary spontaneous pneumothorax. Eur Respir ...
    https://medlineplus.gov/.../primary-spontaneous-pneumothorax - Genetics
  10. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms ... S, Buonomo C, Perez-Atayde AR, Fox VL. Diagnosis and management of MNGIE syndrome in children: case ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
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