(Q21202896)

18 August 2022

Olivier Goulet

1

Olivier

Goulet

1 reference

18 August 2022

Christine Vinson

2

Christine

Vinson

1 reference

18 August 2022

Bertrand Roquelaure

3

Bertrand

Roquelaure

1 reference

18 August 2022

Nicole Brousse

4

Nicole

Brousse

1 reference

18 August 2022

Jean-Pierre Cézard

6

Jean-Pierre

Cézard

1 reference

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

28 February 2008

3 references

23 March 2019

21 March 2019

8 April 2021

3 references

23 March 2019

21 March 2019

8 April 2021

3

0 references

issue

1

0 references

page(s)

6

0 references

copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

23 March 2019

Europe PubMed Central

21 March 2019

Europe PubMed Central

on focus list of Wikimedia project

8 April 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Intestinal epithelial dysplasia (tufting enteropathy)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Microvillous inclusion disease (microvillous atrophy)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Irreversible intestinal failure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Intractable diarrhea of infancy with epithelial and basement membrane abnormalities

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Severe neonatal citrullinaemia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Familial microvillous atrophy: a clinicopathological survey of 23 cases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

A unique case of trichorrhexis nodosa; bamboo hairs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Severe and protracted diarrhea: results of the 3-year SIGEP multicenter survey. Working Group of the Italian Society of Pediatric Gastroenterology and Hepatology (SIGEP).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

The molecular basis of intractable diarrhoea of infancy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Intractable Diarrhea of Infancy with Facial Dysmorphism, Trichorrhexis Nodosa, and Cirrhosis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Etiology and risk factors of severe and protracted diarrhea.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2279108

Trichorrhexis nodsa--an error of amino acid metabolism?

29 November 2018

1 reference

12 December 2020

Scanning electron microscopy of normal and abnormal hair shafts

1 reference

12 December 2020

A comparison of the proteins of normal and trichothiodystrophic human hair

1 reference

12 December 2020

Pili torti in association with citrullinemia

1 reference

12 December 2020

What syndrome is this? Netherton syndrome

1 reference

12 December 2020

Oligoclonal gammopathy in phenotypic diarrhea

1 reference

12 December 2020

"Syndromic diarrhea" may have better outcome than previously reported

1 reference

12 December 2020

Trichorrhexis nodosa. Clinical and investigative studies

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-3-6

0 references