Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea. (Q65950468)

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English	Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

part of the series

Gene Wiki Review Series

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1 reference

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inferred from title

Madhur Ravikumara

13

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

author name string

C Poulton

1

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

G Pathak

2

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

K Mina

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

T Lassman

4

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

D N Azmanov

5

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26 July 2019

http://europepmc.org/abstract/MED/30844479

E McCormack

6

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Europe PubMed Central

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26 July 2019

http://europepmc.org/abstract/MED/30844479

S Broley

7

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

L Dreyer

8

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Europe PubMed Central

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26 July 2019

http://europepmc.org/abstract/MED/30844479

D Gration

9

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26 July 2019

http://europepmc.org/abstract/MED/30844479

E Taylor

10

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

M OSullivan

11

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

A Siafarikis

12

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

H Dawkins

14

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Europe PubMed Central

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26 July 2019

http://europepmc.org/abstract/MED/30844479

N Pachter

15

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

G Baynam

16

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

language of work or name

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publication date

4 March 2019

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Europe PubMed Central

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26 July 2019

http://europepmc.org/abstract/MED/30844479

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

699

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

110-114

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Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndromic diarrhea/Tricho-hepato-enteric syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Threading the barrel of the RNA exosome

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https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The yeast ski complex: crystal structure and RNA channeling to the exosome complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initiating an undiagnosed diseases program in the Western Australian public health system

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30844479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.GENE.2019.02.059

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2019

http://europepmc.org/abstract/MED/30844479

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