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Items: 1 to 20 of 136

1.

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.

2.

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.

3.

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
4.

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
5.

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
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.

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
8.

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
9.

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
10.

Crisponi syndrome: a new case with additional features and new mutation in CRLF1.

Okur I, Tumer L, Crisponi L, Eminoglu FT, Chiappe F, Cinaz P, Yenicesu I, Hasanoglu A.

Am J Med Genet A. 2008 Dec 15;146A(24):3237-9. doi: 10.1002/ajmg.a.32531. No abstract available.

PMID:
19012339
11.

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
12.

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.

Clin Dysmorphol. 2017 Apr;26(2):66-72. doi: 10.1097/MCD.0000000000000163. Review.

PMID:
27977424
13.

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.

14.

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.

Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC.

Am J Med Genet A. 2005 Feb 15;133A(1):90-2. Review.

PMID:
15637710
15.

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V.

Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x.

PMID:
20447141
16.

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

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.

17.

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.

18.

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.

Cosar H, Kahramaner Z, Erdemir A, Turkoglu E, Kanik A, Sutcuoglu S, Onay H, Alpman A, Ozkinay F, Ozer EA.

Clin Dysmorphol. 2011 Oct;20(4):187-9. doi: 10.1097/MCD.0b013e328348836c.

PMID:
21691203
19.

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
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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