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109 results on '"Kaiser-Kupfer MI"'

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1. Classic nephropathic cystinosis as an adult disease.

2. Amiodarone-Induced Gynecomastia

3. Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.

4. Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

5. Use of nitisinone in patients with alkaptonuria.

6. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

7. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

8. Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy.

9. Congenital iridocorneal malformation in Rieger syndrome.

10. A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.

11. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

12. Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

13. Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

14. Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.

15. Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

16. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

17. Ophthalmic manifestations of Allgrove syndrome: report of a case.

18. Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies.

19. Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement.

20. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

21. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

22. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.

23. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

24. Pilot trial of the safety, tolerability, and retinoid levels of N-(4-hydroxyphenyl) retinamide in combination with tamoxifen in patients at high risk for developing invasive breast cancer.

25. Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.

26. A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis.

27. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

28. Effects of fenretinide (4-HPR) on dark adaptation.

29. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

30. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

31. Evaluation of visual function following neodymium:YAG laser posterior capsulotomy.

32. Association of visual field, cup-disc ratio, and magnetic resonance imaging of optic chiasm.

33. Association of thyroid disease with retinitis pigmentosa and gyrate atrophy.

34. Ocular manifestations of metabolic disorders.

35. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

36. Constructing retinal fundus photomontages. A new computer-based method.

37. Autosomal dominant zonular cataract with sutural opacities in a four-generation family.

38. Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration.

39. Benign cystinosis patients.

40. Ocular manifestations of metabolic disorders.

41. Ocular manifestations of metabolic disorders.

42. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

43. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.

44. Autosomal dominant congenital cataract. Interocular phenotypic variability.

45. Evoked potential analysis of visual pathways in human albinism.

46. Posterior subcapsular cataract in endogenous Cushing syndrome: an uncommon manifestation.

47. Central serous chorioretinopathy in endogenous hypercortisolism.

48. Lens opacities in neurofibromatosis 2: further significant correlations.

49. Lisch nodules in Cushing's disease.

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