Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäres Lymphödem Typ 1a

Das hereditäre Lymphödem Typ 1a ist eine autosomal dominante Erkrankung, die durch Mutationen im FLT4-Gen hervorgerufen wird.

Gliederung

Hereditäres Lymphödem
Emberger-Syndrom
Hennekam-Syndrom
Hereditäres Lymphödem Typ 1a
FLT4
Hereditäres Lymphödem Typ 1c
Hereditäres Lymphödem Typ 1d
Hereditäres Lymphödem mit Distichiasis
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom

Referenzen:

1.

Ferrell RE et. al. (1998) Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

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2.

Karkkainen MJ et. al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.

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3.

Evans AL et. al. (2003) Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

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4.

Spiegel R et. al. (2006) Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

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5.

Ghalamkarpour A et. al. (2006) Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

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6.

Connell FC et. al. (2009) Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

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7.

Ghalamkarpour A et. al. (2009) Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.

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8.

Gordon K et al. (2013) Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

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9.

None (1978) Congenital hereditary lymphedema in the pig.

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10.

None (1978) The pathogenesis of congenital hereditary lymphedema in the pig.

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11.

Evans AL et. al. (1999) Mapping of primary congenital lymphedema to the 5q35.3 region.

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12.

Holberg CJ et. al. (2001) Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families.

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13.

HURWITZ PA et. al. (1964) PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES.

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14.

None (1965) CONGENITAL HEREDITARY LYMPHOEDEMA.

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15.

Brice G et. al. (2005) Milroy disease and the VEGFR-3 mutation phenotype.

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16.

Balboa-Beltran E et. al. (2014) A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

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