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Cold-Induced Sweating Syndrome Including Crisponi Syndrome.
Hahn AF, Knappskog PM. Hahn AF, et al. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21370513 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, cam …
CLINICAL CHARACTERISTICS: Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi …
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. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. ...
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermi …
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. Angius A, et al. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold …
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a comp …
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. Yilmaz Gulec E, et al. Clin Genet. 2022 Sep;102(3):201-217. doi: 10.1111/cge.14177. Epub 2022 Jul 12. Clin Genet. 2022. PMID: 35699517
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. ...
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episod …
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. Buers I, et al. Stem Cell Res. 2020 Jul;46:101855. doi: 10.1016/j.scr.2020.101855. Epub 2020 Jun 1. Stem Cell Res. 2020. PMID: 32512309 Free article.
Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. ...
Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe d …
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.
Kolkiran A, Ürel-Demir G, Şimşek-Kiper PÖ, Utine GE. Kolkiran A, et al. Eur J Med Genet. 2021 Jul;64(7):104229. doi: 10.1016/j.ejmg.2021.104229. Epub 2021 Apr 25. Eur J Med Genet. 2021. PMID: 33910095
Crisponi syndrome/Cold Induced Sweating Syndrome 1 (CS/CISS1) is a rare, autosomal recessive, multisystemic disease. ...Mutations in the cytokine receptor like factor 1 (CRLF1) gene causes the CISS1 (Cold- induced sweatin …
Crisponi syndrome/Cold Induced Sweating Syndrome 1 (CS/CISS1) is a rare, autosomal recessive, mult …
Cold induced sweating syndrome with urinary system anomaly association.
Aljabari S, Howard E, Bell T, Vasylyeva TL. Aljabari S, et al. Case Rep Pediatr. 2013;2013:173890. doi: 10.1155/2013/173890. Epub 2013 Aug 29. Case Rep Pediatr. 2013. PMID: 24073352 Free PMC article.
Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by …
Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as col …
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.
Onesimo R, Sforza E, Palermo F, Giorgio V, Leoni C, Rigante D, Trevisan V, Agazzi C, Limongelli D, Proli F, Kuczynska EM, Crisponi L, Crisponi G, Zampino G. Onesimo R, et al. Genes (Basel). 2024 Aug 23;15(9):1109. doi: 10.3390/genes15091109. Genes (Basel). 2024. PMID: 39336700 Free PMC article.
Feeding difficulties are constantly present in patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1). The aim of our study was to describe their prevalence and evolution from birth to adult age. ...
Feeding difficulties are constantly present in patients with Crisponi/cold-induced sweating syndrome type 1 (CS/ …
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.
Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG. Hahn AF, et al. J Neurol Sci. 2006 Dec 1;250(1-2):62-70. doi: 10.1016/j.jns.2006.07.001. Epub 2006 Sep 6. J Neurol Sci. 2006. PMID: 16952376
OBJECTIVES: To characterize the specific autonomic disturbances underlying the cold-induced sweating syndrome (CISS), and to describe a novel genetic variant of this rare recessive disorder. ...The Australian case, however, had no pathogenic sequence v …
OBJECTIVES: To characterize the specific autonomic disturbances underlying the cold-induced sweating syndrome (C …
57 results