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Items: 1 to 20 of 85

1.

Cold induced sweating syndrome with urinary system anomaly association.

Aljabari S, Howard E, Bell T, Vasylyeva TL.

Case Rep Pediatr. 2013;2013:173890. doi: 10.1155/2013/173890. Epub 2013 Aug 29.

2.

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.

Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y.

Am J Med Genet A. 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315.

PMID:
20186812
3.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2007 May;80(5):966-70. Epub 2007 Mar 13.

4.

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

Moortgat S, Benoit V, Deprez M, Charon A, Maystadt I.

Eur J Med Genet. 2014 Apr;57(5):212-5. doi: 10.1016/j.ejmg.2014.02.003. Epub 2014 Mar 5.

PMID:
24613578
5.

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

Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG.

J Neurol Sci. 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6.

PMID:
16952376
6.

Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.

Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H.

J Neurol Sci. 2010 Jun 15;293(1-2):68-75. doi: 10.1016/j.jns.2010.02.028. Epub 2010 Apr 18.

PMID:
20400119
7.

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H.

Brain Dev. 2013 Jun;35(6):596-601. doi: 10.1016/j.braindev.2012.08.011. Epub 2012 Sep 29.

PMID:
23026229
8.

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

Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H.

Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10068-73. Epub 2006 Jun 16.

9.

Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.

González Fernández D, Lázaro Pérez M, Santillán Garzón S, Alvarez Martínez V, Encinas Madrazo A, Fernández Toral J, Pérez Oliva N.

Dermatology. 2013;227(2):126-9. doi: 10.1159/000351880. Epub 2013 Aug 30.

PMID:
24008591
10.

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F.

Am J Hum Genet. 2007 May;80(5):971-81. Epub 2007 Mar 30.

11.

Cold-Induced Sweating Syndrome Including Crisponi Syndrome.

Hahn AF, Boman H.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2011 Mar 3 [updated 2016 Mar 17].

12.

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6.

PMID:
24488861
13.

Crisponi/CISS1 syndrome: A case series.

Alhashem AM, Majeed-Saidan MA, Ammari AN, Alrakaf MS, Nojoom M, Maddirevula S, Faqeih E, Alkuraya FS, Garne E, Kurdi AM.

Am J Med Genet A. 2016 May;170A(5):1236-41. doi: 10.1002/ajmg.a.37569. Epub 2016 Jan 24.

PMID:
26804344
14.

Role of cytokine receptor-like factor 1 in hepatic stellate cells and fibrosis.

Stefanovic L, Stefanovic B.

World J Hepatol. 2012 Dec 27;4(12):356-64. doi: 10.4254/wjh.v4.i12.356.

15.

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

Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H.

Am J Hum Genet. 2003 Feb;72(2):375-83. Epub 2002 Dec 31.

16.

Pure autonomic failure with cold induced sweating.

Idiaquez J, Fadic R, Verdugo R, Idiaquez JF, Iodice V, Low DA, Mathias CJ, Lombardi R, Lauria G.

Auton Neurosci. 2013 Jun;176(1-2):98-100. doi: 10.1016/j.autneu.2013.02.019. Epub 2013 Mar 16.

PMID:
23511064
17.

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.

Uzunalic N, Zenciroglu A, Beken S, Piras R, Dilli D, Aydin B, Chiappe F, Okumus N, Crisponi L.

Genet Couns. 2013;24(2):161-6.

PMID:
24032286
18.

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.

Hakan N, Eminoglu FT, Aydin M, Zenciroglu A, Karadag NN, Dursun A, Okumus N, Ceylaner S.

Congenit Anom (Kyoto). 2012 Dec;52(4):216-8. doi: 10.1111/j.1741-4520.2012.00360.x.

PMID:
23181498
19.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026.

PMID:
27392078
20.

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F.

Eur J Hum Genet. 2011 May;19(5):525-33. doi: 10.1038/ejhg.2010.253. Epub 2011 Feb 16.

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