(Q35272233)

7 August 2017

0 references

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria (English)

1 reference

7 August 2017

2

1 reference

7 August 2017

Hanan M Fathy

7

0 references

Virginia Vega-Warner

3

object named as

Virginia Vega-Warner

1 reference

7 August 2017

Bugsu Ovunc

1

1 reference

7 August 2017

Pawaree Saisawat

4

1 reference

7 August 2017

Shazia Ashraf

5

1 reference

7 August 2017

Gokul Ramaswami

6

1 reference

7 August 2017

Dominik Schoeb

8

1 reference

7 August 2017

Gil Chernin

9

1 reference

7 August 2017

Robert H Lyons

10

1 reference

7 August 2017

Engin Yilmaz

11

1 reference

7 August 2017

Friedhelm Hildebrandt

12

1 reference

7 August 2017

8 September 2011

1 reference

Journal of the American Society of Nephrology

7 August 2017

1 reference

7 August 2017

22

1 reference

7 August 2017

10

1 reference

7 August 2017

1815-1820

1 reference

CUBN is a gene locus for albuminuria

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Cubilin is essential for albumin reabsorption in the renal proximal tubule

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Exome sequencing identifies the cause of a mendelian disorder

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

A systematic approach to mapping recessive disease genes in individuals from outbred populations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Allegro, a new computer program for multipoint linkage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Parametric and nonparametric linkage analysis: a unified multipoint approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Imerslund-Gräsbeck syndrome in an African patient

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Congenital nephrotic syndrome in mice lacking CD2-associated protein

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3187182

Ileal Mucosa in Familial Selective Vitamin B12Malabsorption

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21903995

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Imerslund's disease. Clinical and biological aspects. Apropos of 6 cases]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21903995

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21903995

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2011040337

1 reference

7 August 2017

1 reference

7 August 2017

1 reference