Lebersche kongenitale Amaurose 01
Lebersche kongenitale Amaurose 1 ist eine autosomal rezessive Erkrankung, die auf Mutationen des GUCY2D-Gens beruht.
Gliederung
Referenzen:
1. |
Camuzat A et. al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p. [^] |
2. |
Camuzat A et. al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. [^] |
3. |
Perrault I et. al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. [^] |
4. |
Hanein S et. al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. [^] |
5. |
Khan AO et. al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. [^] |
6. |
Hanein S et. al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. [^] |
7. |
Sohocki MM et. al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. [^] |
8. |
Khanna H et. al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. [^] |
9. |
Zernant J et. al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. [^] |
10. |
Riess O et. al. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. [^] |
11. |
Wagner RS et. al. (1985) High hyperopia in Leber's congenital amaurosis. [^] |
12. |
Russell-Eggitt IM et. al. (1989) Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. [^] |
13. |
Hayasaka S et. al. (1986) Leber's congenital amaurosis associated with hyperthreoninemia. [^] |
14. |
Schroeder R et. al. (1987) Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. [^] |
15. |
Ek J et. al. (1986) Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. [^] |
16. |
Rahn EK et. al. (1968) Leber's congenital amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family. [^] |
17. |
None (1968) Leber's congenital tapetoretinal degeneration. [^] |
18. |
Moore AT et. al. (1984) A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis. [^] |
19. |
Nickel B et. al. (1982) Leber's congenital amaurosis. Is mental retardation a frequent associated defect? [^] |
20. |
Lambert SR et. al. (1993) Concordance and recessive inheritance of Leber congenital amaurosis. [^] |
21. |
Ehara H et. al. (1997) New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. [^] |
22. |
Yano S et. al. (1998) Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies. [^] |
23. |
Schuil J et. al. (1998) Mental retardation in amaurosis congenita of Leber. [^] |
24. |
Perrault I et. al. (1999) Leber congenital amaurosis. [^] |
25. |
Cremers FP et. al. (2002) Molecular genetics of Leber congenital amaurosis. [^] |
26. |
Milam AH et. al. (2003) Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. [^] |
27. |
WAARDENBURG PJ et. al. (1963) ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS. [^] |
28. |
None (1966) Congenital amaurosis of Leber. [^] |
29. |
Chung DC et. al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. [^] |
30. |
Sorsby A et. al. (1960) Retinal Aplasia as a Clinical Entity. [^] |
31. |
Wiszniewski W et. al. (2011) Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. [^] |