Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2015 1
2017 1
2019 1
2020 1
2022 2
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. ...Recently, variants in other genes, includi …
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodacty …
CRLF1 and CLCF1 in Development, Health and Disease.
Crisponi L, Buers I, Rutsch F. Crisponi L, et al. Int J Mol Sci. 2022 Jan 17;23(2):992. doi: 10.3390/ijms23020992. Int J Mol Sci. 2022. PMID: 35055176 Free PMC article. Review.
In this review, we highlight the role of the soluble type I cytokine receptor CRLF1 (cytokine receptor-like factor-1) and the Interleukin (IL)-6 cytokine CLCF1 (cardiotrophin-like cytokine factor 1) during development in physiological and pathological conditions with particular e …
In this review, we highlight the role of the soluble type I cytokine receptor CRLF1 (cytokine receptor-like factor-1) and the Interleukin (I …
A new case series of Crisponi syndrome in a Turkish family and review of the literature.
Bayraktar-Tanyeri B, Hepokur M, Bayraktar S, Persico I, Crisponi L. Bayraktar-Tanyeri B, et al. Clin Dysmorphol. 2017 Apr;26(2):66-72. doi: 10.1097/MCD.0000000000000163. Clin Dysmorphol. 2017. PMID: 27977424 Review.
Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for CS and in the evolutive one for CISS. The syndrome usually manifests at birth. The aim of th …
Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenot …
Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.
A R, Chandran S, Ghatak AR, Thomas N, Danda S. A R, et al. Indian J Pediatr. 2022 Nov;89(11):1148-1150. doi: 10.1007/s12098-022-04263-4. Epub 2022 Aug 19. Indian J Pediatr. 2022. PMID: 35984556 Review.
Crisponi syndrome (CS) is a rare autosomal recessive syndrome, characterized by episodic facial muscle contraction with trismus, abundant salivation along with intermittent hyperthermia, feeding difficulties, characteristic facial dysmorphism, and camptodacty …
Crisponi syndrome (CS) is a rare autosomal recessive syndrome, characterized by episodic facial muscle contraction with …
Cardiotrophin-like cytokine factor 1 (CLCF1) and neuropoietin (NP) signalling and their roles in development, adulthood, cancer and degenerative disorders.
Sims NA. Sims NA. Cytokine Growth Factor Rev. 2015 Oct;26(5):517-22. doi: 10.1016/j.cytogfr.2015.07.014. Epub 2015 Jul 14. Cytokine Growth Factor Rev. 2015. PMID: 26198769 Review.
Mutations in cardiotrophin-like cytokine factor (CLCF1) and the related cytokine to which it binds, cytokine receptor-like factor 1 (CRLF1), are associated with Crisponi/cold induced sweating syndromes, and lead to early neonatal death in mice due to a suckling defect. ...
Mutations in cardiotrophin-like cytokine factor (CLCF1) and the related cytokine to which it binds, cytokine receptor-like factor 1 (CRLF1), …
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.
Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Nannenberg EA, et al. Am J Med Genet A. 2005 Feb 15;133A(1):90-2. doi: 10.1002/ajmg.a.30536. Am J Med Genet A. 2005. PMID: 15637710 Review.
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and l …
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the fac …