(Q24682847)

10

0 references

Fatima Djouadi

object named as

F Djouadi

8

0 references

author name string

N Dagoneau

1

0 references

S Bellais

2

0 references

P Blanchet

3

0 references

P Sarda

4

0 references

L I Al-Gazali

5

0 references

M Di Rocco

6

0 references

C Huber

7

0 references

C Le Goff

9

0 references

V Cormier-Daire

American Journal of Human Genetics

11

0 references

language of work or name

English

0 references

publication date

May 2007

0 references

published in

0 references

volume

80

0 references

issue

5

0 references

page(s)

966-70

0 references

cites work

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

A null mutation in the human CNTF gene is not causally related to neurological diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Suckling defect in mice lacking the soluble haemopoietin receptor NR6.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852726

Crisponi syndrome: Report of a further patient

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17436251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17436251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17436251