Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 01

Lebersche kongenitale Amaurose 1 ist eine autosomal rezessive Erkrankung, die auf Mutationen des GUCY2D-Gens beruht.

Gliederung

Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
GUCY2D
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Referenzen:

1.

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

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2.

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

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3.

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

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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.

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5.

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

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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.

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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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.

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16.

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

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17.

None (1968) Leber's congenital tapetoretinal degeneration.

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18.

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

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19.

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

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20.

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

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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.

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

None (1966) Congenital amaurosis of Leber.

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29.

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

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30.

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

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31.

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

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