223 related articles for article (PubMed ID: 17436252)
1. 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. PubMed ID: 17436252
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17436251
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20186812
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24488861
[TBL] [Abstract][Full Text] [Related]
5. Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.
Kolkiran A; Ürel-Demir G; Şimşek-Kiper PÖ; Utine GE
Eur J Med Genet; 2021 Jul; 64(7):104229. PubMed ID: 33910095
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 24613578
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 24008591
[TBL] [Abstract][Full Text] [Related]
8. 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; 99(1):236-45. PubMed ID: 27392078
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 21326283
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23181498
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 26804344
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12509788
[TBL] [Abstract][Full Text] [Related]
13. 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; 2017 Jul; 92(1):104-108. PubMed ID: 27976805
[TBL] [Abstract][Full Text] [Related]
14. 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; 293(1-2):68-75. PubMed ID: 20400119
[TBL] [Abstract][Full Text] [Related]
15. 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; 250(1-2):62-70. PubMed ID: 16952376
[TBL] [Abstract][Full Text] [Related]
16. 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
Clin Genet; 2020 Jan; 97(1):209-221. PubMed ID: 31497877
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24032286
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Yilmaz Gulec E; Turgut GT; Gezdirici A; Karaman V; Ozturk FN; Avci S; Kalayci T; Senturk L; Ayaz A; Kayserili H; Uyguner ZO; Altunoğlu U
Clin Genet; 2022 Sep; 102(3):201-217. PubMed ID: 35699517
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 23026229
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A; Uva P; Oppo M; Buers I; Persico I; Onano S; Cuccuru G; Van Allen MI; Hulait G; Aubertin G; Muntoni F; Fry AE; Annerén G; Stattin EL; Palomares-Bralo M; Santos-Simarro F; Cucca F; Crisponi G; Rutsch F; Crisponi L
Clin Genet; 2019 May; 95(5):607-614. PubMed ID: 30859550
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
