(Q54839579)

7 June 2018

title

Renal anomalies in Alagille syndrome: a disease-defining feature. (English)

1 reference

7 June 2018

1 reference

Binita M Kamath

1

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7 June 2018

Gisele Podkameni

2

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7 June 2018

Anne L Hutchinson

3

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7 June 2018

Laura D Leonard

4

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7 June 2018

Jennifer Gerfen

5

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7 June 2018

Ian D Krantz

6

1 reference

7 June 2018

David A Piccoli

7

1 reference

7 June 2018

Nancy B Spinner

8

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7 June 2018

Kathleen M Loomes

9

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7 June 2018

Kevin Meyers

10

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7 June 2018

language of work or name

English

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publication date

21 November 2011

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7 June 2018

American Journal of Medical Genetics

published in

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7 June 2018

volume

158A

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7 June 2018

issue

1

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7 June 2018

page(s)

85-89

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7 June 2018

An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Alagille syndrome and liver transplantation

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

The contribution of Notch1 to nephron segmentation in the developing kidney is revealed in a sensitized Notch2 background and can be augmented by reducing Mint dosage.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Cell and molecular biology of kidney development

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Consequences of JAG1 mutations

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

National Kidney Foundation practice guidelines for chronic kidney disease: evaluation, classification, and stratification

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Notch signaling and inherited disease syndromes

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Notch signaling in kidney development

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Variable morbidity in alagille syndrome: a review of 43 cases

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

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

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia)

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Effect of Notch activation on the regenerative response to acute renal failure

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Renal function in pediatric liver transplantation: a long-term follow-up study

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Successful stenting for renal artery stenosis in a patient with Alagille syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4511708

Alagille Syndrome in Adult Patients: It Is Never Too Late

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34369

Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome)

21 January 2018

1 reference

12 December 2020

The prevalence and associated features of posterior embryotoxon in the general ophthalmic clinic

1 reference

12 December 2020

Renal abnormalities in paucity of interlobular bile ducts

1 reference

12 December 2020

Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy

1 reference

12 December 2020

Fluids and electrolytes: physiology

1 reference

12 December 2020

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

1 reference

12 December 2020

Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?

1 reference

12 December 2020

Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.34369

1 reference

7 June 2018

PMC publication ID

4511708

1 reference

7 June 2018

PubMed publication ID

22105858

1 reference

7 June 2018