ライフサイエンスコーパス: cone dystrophy

1 leles leads to XLRP resembling recessive rod-cone dystrophy.

2 different isoforms in 2 murine models of rod-cone dystrophy.

3 that mutations in RLBP1 may lead to FAP with cone dystrophy.

4 ients with RPA and in 1 patient with FAP and cone dystrophy.

5 and a phenotype of a slowly progressing rod/cone dystrophy.

6 GR mutations leading exclusively to X-linked cone dystrophy.

7 und to be associated with autosomal dominant cone dystrophy.

8 (GCAP1), in a family with autosomal dominant cone dystrophy.

9 ral areolar choroidal dystrophy and dominant cone dystrophy.

10 CNGB3 are associated with achromatopsia and cone dystrophies.

11 derstanding and treating chromophore-related cone dystrophies.

12 ed GCAP1 have been linked to the etiology of cone dystrophies.

13 important consequences for the treatment of cone dystrophies.

14 ne arrestin is a candidate gene for X-linked cone dystrophies.

15 ss index 29.1) with a slowly progressive rod-cone dystrophy, a mild learning difficulty, high myopia,

16 istically displayed a slowly progressing rod-cone dystrophy accompanied by accumulation of N-retinyli

17 knockout (-/-) mice exhibited a progressive cone dystrophy accompanied by significant alterations in

18 uman cone diseases, including achromatopsia, cone dystrophies, and early onset macular degeneration.

19 such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) o

20 the GC-E-deficient mouse defines a model for cone dystrophy, but it also demonstrates that morphologi

21 CERKL deficiency in zebrafish may cause rod-cone dystrophy, but not cone-rod dystrophy, while interf

22 on of 11-cis-RDHs causes a slowly developing cone dystrophy caused by inefficient cone pigment regene

23 e genetic causes of autosomal recessive (ar) cone dystrophy (CD) and cone-rod dystrophy (CRD) are cur

24 Six patients with cone dystrophy (CD) and eight patients with retinitis pi

25 pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic varia

26 atients with achromatopsia (A), and six with cone dystrophy (CD) were obtained with frequency domain

27 lized cone degenerations, including X-linked cone dystrophy (COD1).

28 ions in CA4 linked to autosomal dominant rod-cone dystrophy disrupt NBC1-mediated HCO3- transport.

29 In the rod-cone dystrophy dog model of blindness, LiGluR-MAG0(460)

30 tly found to be linked to autosomal dominant cone dystrophy in a British family.

31 Nrl(-/-) background exacerbates age-related cone dystrophy in a light-independent manner, mediated p

32 otential approach to slow the progression of cone dystrophy in affected humans.

33 Cys, a mutation linked to autosomal dominant cone dystrophy in humans, Cys99 is unable to stabilize t

34 ssociated with achromatopsia and progressive cone dystrophy in humans.

35 All had rod-cone dystrophy (International Society for Clinical Elect

36 generation, Stargardt disease, and recessive cone dystrophies is a major cause of blindness.

37 X-linked cone dystrophy is a genetically heterogeneous disorder,

38 X-linked cone dystrophy is a type of hereditary retinal degenerat

39 a disorder that we termed "Newfoundland rod-cone dystrophy" (NFRCD).

40 Patients also may exhibit an isolated cone dystrophy on ERG examination.

41 Ten patients with cone dystrophy participated.

42 tion, including the first reported case of a cone dystrophy phenotype associated with the disorder.

43 7 patients had proven BBS mutations; 1 had a cone dystrophy phenotype on ERG and 6 had a cone-rod pat

44 ologic testing in 6 patients confirmed a rod-cone dystrophy phenotype.

45 mechanism underlying the autosomal dominant cone dystrophies produced by GCAP1 mutations.

46 riants were identified in a patient with rod-cone dystrophy: R722X in exon 16 and R865W in exon 19 on

47 Rod-cone dystrophy (RCD), also known as retinitis pigmentosa

48 Patients with cone dystrophy show different patterns of psychophysical

49 -/-) mice exhibited a slowly progressing rod-cone dystrophy simulating the human disease.

50 We mapped two families with X-linked cone dystrophy to the COD1 locus and identified two dist

51 ave been proposed as the molecular basis for cone dystrophy with supernormal rod electroretinogram.

52 20-40) years, and 6 had an earlier onset rod-cone dystrophy, with a mean (range) age at onset of 12.1

53 patients, 4 had a progressive late-onset rod-cone dystrophy, with a mean (range) age at onset of 29.7

54 ssociated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting

55 ranging from color blindness to progressive cone dystrophy (XLCOD5).