(Q46964230)

26 December 2017

title

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis (English)

1 reference

26 December 2017

Hanan M Fathy

14

0 references

Ari J. Wassner

Ari J Wassner

32

0 references

Daniela A Braun

Daniela A Braun

3

0 references

Heon Yung Gee

Heon Yung Gee

4

0 references

Tilman Jobst-Schwan

7

Tilman Jobst-Schwan

1 reference

26 December 2017

Asaf Vivante

8

Asaf Vivante

1 reference

26 December 2017

author name string

Ankana Daga

1

1 reference

26 December 2017

Amar J Majmundar

2

1 reference

26 December 2017

Jennifer A Lawson

5

1 reference

26 December 2017

Shirlee Shril

6

1 reference

26 December 2017

David Schapiro

9

1 reference

26 December 2017

Weizhen Tan

10

1 reference

26 December 2017

Jillian K Warejko

11

1 reference

26 December 2017

Eugen Widmeier

12

1 reference

26 December 2017

Caleb P Nelson

13

1 reference

26 December 2017

Zoran Gucev

15

1 reference

26 December 2017

Neveen A Soliman

16

1 reference

26 December 2017

Seema Hashmi

17

1 reference

26 December 2017

Jan Halbritter

18

1 reference

26 December 2017

Margarita Halty

19

1 reference

26 December 2017

Jameela A Kari

20

1 reference

26 December 2017

Sherif El-Desoky

21

1 reference

26 December 2017

Michael A Ferguson

22

1 reference

26 December 2017

Michael J G Somers

23

1 reference

26 December 2017

Avram Z Traum

24

1 reference

26 December 2017

Deborah R Stein

25

1 reference

26 December 2017

Ghaleb H Daouk

26

1 reference

26 December 2017

Nancy M Rodig

27

1 reference

26 December 2017

Avi Katz

28

1 reference

26 December 2017

Christian Hanna

29

1 reference

26 December 2017

Andrew L Schwaderer

30

1 reference

26 December 2017

John A Sayer

31

1 reference

26 December 2017

Shrikant Mane

33

1 reference

26 December 2017

Richard P Lifton

34

1 reference

26 December 2017

Danko Milosevic

35

1 reference

26 December 2017

Velibor Tasic

36

1 reference

26 December 2017

Michelle A Baum

37

1 reference

26 December 2017

Friedhelm Hildebrandt

38

1 reference

26 December 2017

language of work or name

English

0 references

publication date

8 September 2017

1 reference

26 December 2017

published in

Kidney International

1 reference

26 December 2017

Mutations in SLC26A1 Cause Nephrolithiasis

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Exploring the genetic basis of early-onset chronic kidney disease

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

MutationTaster2: mutation prediction for the deep-sequencing age.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Temporal trends in incidence of kidney stones among children: a 25-year population based study

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Prevalence of kidney stones in the United States

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

A method and server for predicting damaging missense mutations

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

The Sequence Alignment/Map format and SAMtools

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

HomozygosityMapper--an interactive approach to homozygosity mapping

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Kidney stones and the risk for chronic kidney disease

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

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

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Identification of novel cystinuria mutations in pediatric patients

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

NHERF1 mutations and responsiveness of renal parathyroid hormone

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Early oral cysteamine therapy for nephropathic cystinosis

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase

29 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5750088

ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention

29 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28893421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detailed studies of growth hormone secretion in cystinosis patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28893421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28893421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.KINT.2017.06.025

1 reference

26 December 2017

0 references

1 reference

26 December 2017