(Q33916225)

30 July 2017

0 references

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q (English)

1 reference

30 July 2017

1 reference

L N Bull

1

1 reference

30 July 2017

E Roche

2

1 reference

30 July 2017

E J Song

3

1 reference

30 July 2017

J Pedersen

4

1 reference

30 July 2017

A S Knisely

5

1 reference

30 July 2017

C B van Der Hagen

6

1 reference

30 July 2017

K Eiklid

7

1 reference

30 July 2017

O Aagenaes

8

1 reference

30 July 2017

N B Freimer

9

1 reference

30 July 2017

language of work or name

English

0 references

publication date

30 August 2000

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

67

1 reference

30 July 2017

994-999

1 reference

30 July 2017

4

1 reference

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Progressive familial intrahepatic cholestasis: a personal perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Molecular cloning and characterization of the murine bile salt export pump

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

A gene for lymphedema-distichiasis maps to 16q24.3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Hereditary lymphedema: evidence for linkage and genetic heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Hereditary recurrent intrahepatic cholestasis from birth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Lymphoedema in Hereditary Recurrent Cholestasis from Birth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Hereditary recurrent cholestasis with lymphoedema--two new families.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287903

Hereditary lymphedema and obstructive jaundice

29 October 2018

1 reference

12 December 2020

Primary lymphoedema combined with hereditary recurrent intrahepatic cholestasis

1 reference

12 December 2020

Aagenaes's syndrome in an Italian child

1 reference

12 December 2020

Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age

1 reference

12 December 2020

Genetic cholestasis syndromes

1 reference

12 December 2020

Phenotypic and genotypic heterogeneity in familial Milroy lymphedema

1 reference

12 December 2020

Identifiers

DOI

10.1086/303080

1 reference

30 July 2017

1 reference

30 July 2017

1 reference