131 related articles for article (PubMed ID: 32493688)
1. [General anesthesia for Crisponi syndrome: case report].
Allary C; Caruselli M; Fabre A; Audic F; Michel F
Braz J Anesthesiol; 2020; 70(3):299-301. PubMed ID: 32493688
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 27487643
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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):187-189. PubMed ID: 21691203
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.
Schierz IAM; Serra G; Antona V; Persico I; Corsello G; Piro E
Clin Dysmorphol; 2020 Jul; 29(3):141-143. PubMed ID: 32433043
[No Abstract] [Full Text] [Related]
8. Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.
A R; Chandran S; Ghatak AR; Thomas N; Danda S
Indian J Pediatr; 2022 Nov; 89(11):1148-1150. PubMed ID: 35984556
[TBL] [Abstract][Full Text] [Related]
9. Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family.
Sahi PK; Mandal A; Persico I; Seth A; Crisponi L
Indian Pediatr; 2020 Nov; 57(11):1075-1076. PubMed ID: 33231180
[No Abstract] [Full Text] [Related]
10. 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. PubMed ID: 22381110
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.
Agresta A; Fasciani R; Padua L; Petroni S; La Torraca I; Dickmann A; Zampino G; Caporossi A
Ophthalmic Genet; 2017; 38(1):83-87. PubMed ID: 27054527
[TBL] [Abstract][Full Text] [Related]
15. Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.
Akleyin E; Yeniçeri Özata M; Crisponi G
Clin Dysmorphol; 2022 Jul; 31(3):136-140. PubMed ID: 35102033
[No Abstract] [Full Text] [Related]
16. 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]
17. 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]
18. 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. PubMed ID: 27977424
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26804344
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
