(Q80488819)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Karl-Heinz Grzeschik

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

10 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

197-205

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18193458%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-007-0458-4

1 January 2020

exact match

0 references

cites work

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

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12 December 2020

A comprehensive genetic map of the human genome based on 5,264 microsatellites

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12 December 2020

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

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Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

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12 December 2020

Comprehensive human genetic maps: individual and sex-specific variation in recombination

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12 December 2020

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

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12 December 2020

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

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12 December 2020

A second-generation linkage map of the human genome

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12 December 2020

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

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12 December 2020

Faster sequential genetic linkage computations

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12 December 2020

The inheritance of primary lymphoedema

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12 December 2020

Exact genetic linkage computations for general pedigrees.

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12 December 2020

Milroy disease and the VEGFR-3 mutation phenotype

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12 December 2020

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

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12 December 2020

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

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12 December 2020

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

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12 December 2020

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

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12 December 2020

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

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12 December 2020

Mapping of primary congenital lymphedema to the 5q35.3 region

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12 December 2020

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

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12 December 2020

A combined linkage-physical map of the human genome

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12 December 2020