BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 32492556)

  • 1. Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.
    Schöning L; Loges NT; Nitschke Y; Höben IM; Röpke A; Crisponi L; Omran H; Rutsch F; Buers I
    Stem Cell Res; 2020 Jul; 46():101820. PubMed ID: 32492556
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.
    Buers I; Schöning L; Tomas Loges N; Nitschke Y; Höben IM; Röpke A; Crisponi L; Omran H; Rutsch F
    Stem Cell Res; 2020 Jul; 46():101855. PubMed ID: 32512309
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.
    Kanthi A; Hebbar M; Bielas SL; Girisha KM; Shukla A
    Eur J Med Genet; 2019 Jun; 62(6):103528. PubMed ID: 30142437
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CRLF1 and CLCF1 in Development, Health and Disease.
    Crisponi L; Buers I; Rutsch F
    Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35055176
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.