Lebersche kongenitale Amaurose 01

Camuzat A et. al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.

Camuzat A et. al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Perrault I et. al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Hanein S et. al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Khan AO et. al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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.

Sohocki MM et. al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Khanna H et. al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Zernant J et. al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Riess O et. al. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis.

Wagner RS et. al. (1985) High hyperopia in Leber's congenital amaurosis.

Russell-Eggitt IM et. al. (1989) Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

Hayasaka S et. al. (1986) Leber's congenital amaurosis associated with hyperthreoninemia.

Schroeder R et. al. (1987) Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.

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.

Rahn EK et. al. (1968) Leber's congenital amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family.

None (1968) Leber's congenital tapetoretinal degeneration.

Moore AT et. al. (1984) A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

Nickel B et. al. (1982) Leber's congenital amaurosis. Is mental retardation a frequent associated defect?

Lambert SR et. al. (1993) Concordance and recessive inheritance of Leber congenital amaurosis.

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.

Yano S et. al. (1998) Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

Schuil J et. al. (1998) Mental retardation in amaurosis congenita of Leber.

Perrault I et. al. (1999) Leber congenital amaurosis.

Cremers FP et. al. (2002) Molecular genetics of Leber congenital amaurosis.

Milam AH et. al. (2003) Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

WAARDENBURG PJ et. al. (1963) ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS.

None (1966) Congenital amaurosis of Leber.

Chung DC et. al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

Sorsby A et. al. (1960) Retinal Aplasia as a Clinical Entity.

Wiszniewski W et. al. (2011) Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.