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Results: 20

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
21326283
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.

Di Leo R, Nolano M, Boman H, Pierangeli G, Provitera V, Knappskog PM, Cortelli P, Vita G, Rodolico C.

Neurology. 2010 Oct 26;75(17):1567-9. doi: 10.1212/WNL.0b013e3181f96237. No abstract available.

PMID:
20975058
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action.

Herholz J, Crisponi L, Mallick BN, Rutsch F.

Dev Med Child Neurol. 2010 May;52(5):494-7. doi: 10.1111/j.1469-8749.2010.03630.x. Epub 2010 Feb 24. No abstract available.

PMID:
20187881
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus.

Thomas N, Danda S, Kumar M, Jana AK, Crisponi G, Meloni A, Crisponi L.

Am J Med Genet A. 2008 Nov 1;146A(21):2831-4. doi: 10.1002/ajmg.a.32487. No abstract available.

PMID:
18837055
[PubMed - indexed for MEDLINE]
13.

Central apneas in a case of Crisponi syndrome.

Della Marca G, Barone G, Vollono C, Dittoni S, Vasta I, Timpani G, Crisponi G, Zampino G.

Sleep Med. 2008 Aug;9(6):703-4. Epub 2007 Oct 24. No abstract available.

PMID:
17921063
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
17436252
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
17436251
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
16782820
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Crisponi syndrome: report of a further patient.

Accorsi P, Giordano L, Faravelli F.

Am J Med Genet A. 2003 Dec 1;123A(2):183-5.

PMID:
14598344
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
12509788
[PubMed - indexed for MEDLINE]
Free PMC Article

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