(Q34248892)

31 July 2017

title

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus (English)

1 reference

31 July 2017

62

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31 July 2017

Caterina Garone

27

0 references

Jill E. Urquhart

Jill E Urquhart

7

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Simon C Lovell

Simon C Lovell

58

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Paul Kasher

Paul R Kasher

2

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Gillian I. Rice

Gillian I Rice

63

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Duccio M. Cordelli

Duccio M Cordelli

22

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Emilio Franzoni

Emilio Franzoni

26

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Jon Stone

Jon Stone

50

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Yanick J. Crow

Yanick J Crow

64

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Katrin Õunap

42

Katrin Ounap

1 reference

Elisabeth Oppliger Leibundgut

31 July 2017

11

Elisabeth Oppliger Leibundgut

1 reference

31 July 2017

Beverley H Anderson

1

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31 July 2017

Josephine Mayer

3

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31 July 2017

Marcin Szynkiewicz

4

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31 July 2017

Emma M Jenkinson

5

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31 July 2017

Sanjeev S Bhaskar

6

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31 July 2017

Sarah B Daly

8

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31 July 2017

Jonathan E Dickerson

9

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31 July 2017

James O'Sullivan

10

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31 July 2017

Joanne Muter

12

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31 July 2017

Ghada M H Abdel-Salem

13

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31 July 2017

Riyana Babul-Hirji

14

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31 July 2017

Peter Baxter

15

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31 July 2017

Andrea Berger

16

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31 July 2017

Luisa Bonafé

17

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31 July 2017

Janice E Brunstom-Hernandez

18

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31 July 2017

Johannes A Buckard

19

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31 July 2017

David Chitayat

20

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31 July 2017

Wui K Chong

21

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31 July 2017

Patrick Ferreira

23

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31 July 2017

Joel Fluss

24

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31 July 2017

Ewan H Forrest

25

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31 July 2017

Simon R Hammans

28

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31 July 2017

Gunnar Houge

29

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31 July 2017

Imelda Hughes

30

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31 July 2017

Sebastien Jacquemont

31

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31 July 2017

Pierre-Yves Jeannet

32

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31 July 2017

Rosalind J Jefferson

33

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31 July 2017

Ram Kumar

34

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31 July 2017

Georg Kutschke

35

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31 July 2017

Staffan Lundberg

36

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31 July 2017

Charles M Lourenço

37

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31 July 2017

Ramesh Mehta

38

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31 July 2017

Sakkubai Naidu

39

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31 July 2017

Ken K Nischal

40

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31 July 2017

Luís Nunes

41

1 reference

31 July 2017

Michel Philippart

43

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31 July 2017

Prab Prabhakar

44

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31 July 2017

Sarah R Risen

45

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31 July 2017

Raphael Schiffmann

46

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31 July 2017

Calvin Soh

47

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31 July 2017

John B P Stephenson

48

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31 July 2017

Helen Stewart

49

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31 July 2017

John L Tolmie

51

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31 July 2017

Marjo S van der Knaap

52

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31 July 2017

Jose P Vieira

53

1 reference

31 July 2017

Catheline N Vilain

54

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31 July 2017

Emma L Wakeling

55

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31 July 2017

Vanessa Wermenbol

56

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31 July 2017

Andrea Whitney

57

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31 July 2017

Stefan Meyer

59

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31 July 2017

John H Livingston

60

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31 July 2017

Gabriela M Baerlocher

61

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31 July 2017

language of work or name

English

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publication date

22 January 2012

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31 July 2017

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31 July 2017

volume

44

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31 July 2017

issue

3

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31 July 2017

page(s)

338-342

1 reference

Telomeric strategies: means to an end.

31 July 2017

cites work

1 reference

The genetics and clinical manifestations of telomere biology disorders

21 January 2018

1 reference

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification

21 January 2018

1 reference

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

21 January 2018

1 reference

Leukoencephalopathy, cerebral calcifications, and cysts: new observations

21 January 2018

1 reference

Cerebroretinal microangiopathy with calcifications and cysts.

21 January 2018

1 reference

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

21 January 2018

1 reference

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

21 January 2018

1 reference

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

21 January 2018

1 reference

Conservation of telomere protein complexes: shuffling through evolution

21 January 2018

1 reference

Evolution of CST function in telomere maintenance

21 January 2018

1 reference

Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes

21 January 2018

1 reference

RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway

21 January 2018

1 reference

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

21 January 2018

1 reference

A DNA polymerase-{alpha}⋅primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells

21 January 2018

1 reference

CST meets shelterin to keep telomeres in check

21 January 2018

1 reference

Dyskeratosis congenita as a disorder of telomere maintenance

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22267198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The mechanism of action of an accessory protein for DNA polymerase alpha/primase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22267198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.1084

1 reference

Dimensions Publication ID

31 July 2017

1042776923

0 references

1 reference