149 related articles for article (PubMed ID: 30142437)
1. 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]
2. 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]
3. Expanding the clinical spectrum of recessive truncating mutations of
Bruel AL; Bigoni S; Kennedy J; Whiteford M; Buxton C; Parmeggiani G; Wherlock M; Woodward G; Greenslade M; Williams M; St-Onge J; Ferlini A; Garani G; Ballardini E; van Bon BW; Acuna-Hidalgo R; Bohring A; Deleuze JF; Boland A; Meyer V; Olaso R; Ginglinger E; Study D; Rivière JB; Brunner HG; Hoischen A; Newbury-Ecob R; Faivre L; Thauvin-Robinet C; Thevenon J
J Med Genet; 2017 Dec; 54(12):830-835. PubMed ID: 29074562
[TBL] [Abstract][Full Text] [Related]
4. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
Cheraghi S; Moghbelinejad S; Najmabadi H; Kahrizi K; Najafipour R
Eur J Med Genet; 2020 Apr; 63(4):103849. PubMed ID: 31953236
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
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. 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]
13. 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]
14. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Jeffries L; Olivieri JE; Ji W; Spencer-Manzon M; Bale A; Konstantino M; Lakhani SA
Eur J Med Genet; 2019 Sep; 62(9):103551. PubMed ID: 30300710
[TBL] [Abstract][Full Text] [Related]
15. 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]
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. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh JK; Lima de Carvalho JR; Sun YJ; Ragi S; Yang J; Levi SR; Ryu J; Bassuk AG; Mahajan VB; Tsang SH
Orphanet J Rare Dis; 2019 Dec; 14(1):295. PubMed ID: 31856884
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
