(Q33397115)

26 July 2017

title

Age-related penetrance of hereditary atypical hemolytic uremic syndrome (English)

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atypical hemolytic uremic syndrome

26 July 2017

main subject

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Charis Eng

21

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author name string

Maren Sullivan

1

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Lisa A Rybicki

2

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Aurelia Winter

3

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Michael M Hoffmann

4

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Stefanie Reiermann

5

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Hannah Linke

6

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Klaus Arbeiter

7

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Ludwig Patzer

8

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Klemens Budde

9

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Bernd Hoppe

10

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Martin Zeier

11

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Karl Lhotta

12

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Andreas Bock

13

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Thorsten Wiech

14

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Ariana Gaspert

15

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Thomas Fehr

16

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Magdalena Woznowski

17

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Gani Berisha

18

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Angelica Malinoc

19

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Oemer-Necmi Goek

20

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Hartmut P H Neumann

22

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language of work or name

English

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publication date

12 September 2011

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26 July 2017

published in

Annals of Human Genetics

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26 July 2017

volume

75

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issue

6

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26 July 2017

page(s)

639-647

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Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation

26 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Thrombomodulin mutations in atypical hemolytic-uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Mendelian genetics of rare--and not so rare--cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Complement regulatory genes and hemolytic uremic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

New treatment options for atypical hemolytic uremic syndrome with the complement inhibitor eculizumab

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Membrane cofactor protein (MCP or CD46): newest member of the regulators of complement activation gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS): the new thinking

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Familial haemolytic uraemic syndrome and an MCP mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

The molecular basis of hereditary complement factor I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

Thrombotic microangiopathies: new insights and new challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2011.00671.X

10.1111/J.1469-1809.2011.00671.X

21 January 2018

Identifiers

DOI

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26 July 2017

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