Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing (Q28285241)

35

0 references

Eric Lander

42

0 references

Andreas Gnirke

2

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Corinne Antignac

19

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Matthew DeFelice

15

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Brendan Blumenstiel

6

0 references

Kristian Cibulskis

27

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Carrie Sougnez

26

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Stacey Gabriel

36

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Melissa Parkin

28

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Petr Vyletal

Petr Vylet'al

18

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Snaevar Sigurdsson

Snaevar Sigurdsson

24

0 references

Helena Hůlková

Helena Hůlková

16

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Nathalie Pochet

Nathalie Pochet

5

0 references

Chad Nusbaum

39

Chad Nusbaum

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Mark Joseph Daly

43

Mark J Daly

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Mitchell Guttman

20

Mitchell Guttman

0 references

Ramnik J Xavier

32

Ramnik J Xavier

0 references

Jana Sovová

17

Jana Sovová

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Veronika Barešová

4

Veronika Barešová

0 references

Michael C. Zody

31

Michael C Zody

0 references

Danielle Perrin

22

Danielle Perrin

0 references

Andrew Kirby

1

Andrew Kirby

0 references

Elizabeth J Rossin

30

Elizabeth Rossin

0 references

Robert E Handsaker

21

Robert E Handsaker

0 references

Christine Stevens

9

Christine Stevens

0 references

Brendan Blumenstiel

6

Brendan Blumenstiel

0 references

author name string

Chun Ye

7

0 references

Daniel Aird

8

0 references

James T Robinson

10

0 references

Moran N Cabili

11

0 references

Irit Gat-Viks

12

0 references

Edward Kelliher

13

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Riza Daza

14

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Scott Steelman

23

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Steven J Scheinman

25

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Todd Green

29

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Martin R Pollak

33

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Seth L Alper

34

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P Suzanne Hart

37

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Stanislav Kmoch

40

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Anthony J Bleyer

A map of human genome variation from population-scale sequencing

41

0 references

language of work or name

English

0 references

publication date

March 2013

0 references

published in

Nature Genetics

0 references

volume

45

0 references

issue

3

0 references

page(s)

299-303

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901305

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20 March 2017

1 reference

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 March 2017

1 reference

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MUC1: a multifunctional cell surface component of reproductive tissue epithelia

20 March 2017

1 reference

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Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901305

Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing

7 April 2017

1 reference

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Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

29 September 2017

1 reference

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Variable tandem repeats accelerate evolution of coding and regulatory sequences.

29 September 2017

1 reference

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Hereditary Interstitial Kidney Disease

29 September 2017

1 reference

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CKD surveillance using laboratory data from the population-based National Health and Nutrition Examination Survey (NHANES).

29 September 2017

1 reference

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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901305

Sequence-based estimation of minisatellite and microsatellite repeat variability

29 September 2017

1 reference

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Uromodulin storage diseases: clinical aspects and mechanisms

29 September 2017

1 reference

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Tamm-Horsfall glycoprotein: biology and clinical relevance

29 September 2017

1 reference

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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

29 September 2017

1 reference

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Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

2 June 2018

1 reference

Telomeric refinement of the MCKD1 locuson chromosome 1q21**See Editorial by Bichet and Fujiwara, p. 864

21 January 2018

1 reference

MUC 1: a genetic susceptibility to infertility?

21 January 2018

1 reference

Hypervariability of the membrane-associated mucin and cancer marker MUC1.

21 January 2018

1 reference

The MUC1 SEA module is a self-cleaving domain.

21 January 2018

1 reference

Delayed mammary tumor progression in Muc-1 null mice.

21 January 2018

1 reference

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3901305

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23396133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23396133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Medullary cystic kidney disease type 1 in a large Native-American kindred

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.2543

1 reference

Dimensions Publication ID

1017642739

0 references

1 reference

1 reference

PubMed publication ID

23396133

1 reference