ライフサイエンスコーパス: Best disease

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1 pants: Forty-five individuals diagnosed with Best disease.

2 mutation spectrum of BEST1 in patients with Best disease.

3 gs, mfERG amplitudes, prevalence estimate of Best disease.

4 is proposed as a new large animal model for Best disease.

5 pensity for the macula to develop lesions in Best disease.

6 ed with vitelliform macular degeneration, or Best disease.

7 altered electrooculogram of individuals with Best disease.

8 ed in the dominantly inherited eye disorder, Best disease.

9 Best disease, an autosomal dominant inherited macular de

10 ubjects, 39 unrelated probands with familial Best disease, and 57 unrelated probands with the ophthal

11 tive eye diseases such as Stargardt disease, Best disease, and age-related macular degeneration.

12 The lesions in Best disease are primarily restricted to the macula, a s

13 atients with the ophthalmoscopic features of Best disease are probably affected with some other macul

14 described previously in Danish patients with Best disease are reviewed.

15 Patients with the clinical diagnosis of Best disease are significantly more likely to have a mut

16 al appearance typical of and consistent with Best disease at various stages, except that the presenta

17 Best disease (BD) is an inherited degenerative disease o

18 the 57 probands with a clinical diagnosis of Best disease but no family history revealed 16 with muta

19 robands with the ophthalmoscopic findings of Best disease but no family history were screened for seq

20 two other alleles previously associated with Best disease, cotransfection with wild-type bestrophin-1

21 is common in the fundus of individuals with Best disease, diagnosis is based on a reduced ratio of t

22 An eye from a Best disease donor with a T6R mutation was found to have

23 It not only results in the best disease-free term survival rates, but also provides

24 Fifteen of the 20 patients with Best disease had more than 1 visit, and the imaging stud

25 A prevalence estimate of Best disease in Denmark based on the number of diagnosed

26 Best disease is a macular dystrophy caused by mutations

27 On clinical examination, Best disease is characterized by an elevated lesion bene

28 Our frequency estimate confirms that Best disease is one of the most common causes of early m

29 Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal do

30 Of the 39 probands with familial Best disease, mutations were detected in all 39 (33 by S

31 -causing mutations were found in one or more Best disease or AMD patients.

32 Best disease, or vitelliform macular degeneration, is an

33 Unaffected (n = 11) and Best disease patients (n = 7) were imaged at approximate

34 ose proximity to multiple seed nodes are the best disease-related candidate genes.

35 s after the start of light adaptation, while Best disease subjects exhibited a significant increase i

36 jects, and the lack of a light peak phase in Best disease subjects is associated with an increase in

37 dark and light adaptation in unaffected and Best disease subjects, and to compare these changes to t

38 logy of two donors with clinically diagnosed Best disease were also examined.

39 ular manifestation of BEST1 mutation causing Best disease were ascertained retrospectively from the c

40 MD may actually have a late-onset variant of Best disease, whereas at the same time, a considerable f

41 tely sequenced in six probands with familial Best disease who showed no SSCP shift.

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