(Q45255400)

11 December 2017

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations (English)

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congenital short bowel syndrome

11 December 2017

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3

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11 December 2017

10

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11 December 2017

Matthew Carroll

4

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Yunia Sribudiani

object named as

Yunia Sribudiani

2

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author name string

Christine S van der Werf

1

1 reference

11 December 2017

Edward O'Loughlin

5

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11 December 2017

Chien-Huan Chen

6

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11 December 2017

Alice S Brooks

7

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11 December 2017

M Kathryn Liszewski

8

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11 December 2017

John P Atkinson

9

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11 December 2017

language of work or name

English

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publication date

4 October 2012

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11 December 2017

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11 December 2017

15

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11 December 2017

4

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11 December 2017

310-313

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https://scigraph.springernature.com/pub.10.1038/gim.2012.123

11 December 2017

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cites work

Small intestinal length: a factor essential for gut adaptation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Long-term survival of a patient with congenital short bowel and malrotation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Congenital short bowel syndrome: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Filamin A: phenotypic diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Familial cardiac valvulopathy due to filamin A mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Congenital short-bowel; a case study and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

CLMP, a novel member of the CTX family and a new component of epithelial tight junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

Long-Term Outcome of a Patient with Congenital Short Bowel Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

21 January 2018

Congenital short bowel

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

inferred from DOI database lookup

7 January 2021

based on heuristic

Congenital short-bowel and malrotation: clinical presentation and outcome of six affected offspring in three related families

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.123

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2012.123

1 reference

Dimensions Publication ID

11 December 2017

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1 reference