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Items: 1 to 20 of 89

1.

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.

2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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.

8.

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
9.

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
10.

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
11.

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
12.

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
13.

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.

14.

Cardiotrophin-like cytokine factor 1 (CLCF1) and neuropoietin (NP) signalling and their roles in development, adulthood, cancer and degenerative disorders.

Sims NA.

Cytokine Growth Factor Rev. 2015 Oct;26(5):517-22. doi: 10.1016/j.cytogfr.2015.07.014. Epub 2015 Jul 14. Review.

PMID:
26198769
15.

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
16.

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
17.

PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME.

Rafiq M, Almasry S, Abdulrahman A, Al-Sohabani M, Tobias JD.

Middle East J Anaesthesiol. 2016 Jun;23(5):563-7.

PMID:
27487643
18.

Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.

Dessì A, Fanos V, Crisponi G, Frau A, Ottonello G.

J Obstet Gynaecol Res. 2012 Mar;38(3):582-5. doi: 10.1111/j.1447-0756.2011.01741.x. Epub 2012 Feb 16.

PMID:
22381110
19.

Mutations in CRLF1 cause familial achalasia.

Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA.

Clin Genet. 2016 Dec 15. doi: 10.1111/cge.12953. [Epub ahead of print]

PMID:
27976805
20.

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

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