These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
108 related articles for article (PubMed ID: 31665845)
1. [Mainzer-Saldino syndrome caused by IFT140 gene variation]. Zhao X; Rong ZH; Li Y; Jiang LJ; Su QX; Dou ZY Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):884-886. PubMed ID: 31665845 [TBL] [Abstract][Full Text] [Related]
2. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Perrault I; Saunier S; Hanein S; Filhol E; Bizet AA; Collins F; Salih MA; Gerber S; Delphin N; Bigot K; Orssaud C; Silva E; Baudouin V; Oud MM; Shannon N; Le Merrer M; Roche O; Pietrement C; Goumid J; Baumann C; Bole-Feysot C; Nitschke P; Zahrate M; Beales P; Arts HH; Munnich A; Kaplan J; Antignac C; Cormier-Daire V; Rozet JM Am J Hum Genet; 2012 May; 90(5):864-70. PubMed ID: 22503633 [TBL] [Abstract][Full Text] [Related]
3. IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association. Montolío-Marzo S; Català-Mora J; Madrid-Aris Á; Armstrong J; Díaz-Carcajosa J; Carreras E Eur J Med Genet; 2020 Dec; 63(12):104073. PubMed ID: 33002628 [TBL] [Abstract][Full Text] [Related]
4. Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Helm BM; Willer JR; Sadeghpour A; Golzio C; Crouch E; Vergano SS; Katsanis N; Davis EE Hum Genomics; 2017 Jul; 11(1):16. PubMed ID: 28724397 [TBL] [Abstract][Full Text] [Related]
5. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Geoffroy V; Stoetzel C; Scheidecker S; Schaefer E; Perrault I; Bär S; Kröll A; Delbarre M; Antin M; Leuvrey AS; Henry C; Blanché H; Decker E; Kloth K; Klaus G; Mache C; Martin-Coignard D; McGinn S; Boland A; Deleuze JF; Friant S; Saunier S; Rozet JM; Bergmann C; Dollfus H; Muller J Hum Mutat; 2018 Jul; 39(7):983-992. PubMed ID: 29688594 [TBL] [Abstract][Full Text] [Related]
6. Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome. Romano F; Dautaj A; Esposito RA; Bertelli M; Staurenghi G; Salvetti AP Ophthalmic Genet; 2021 Apr; 42(2):218-221. PubMed ID: 33393400 [No Abstract] [Full Text] [Related]
7. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Schmidts M; Frank V; Eisenberger T; Al Turki S; Bizet AA; Antony D; Rix S; Decker C; Bachmann N; Bald M; Vinke T; Toenshoff B; Di Donato N; Neuhann T; Hartley JL; Maher ER; Bogdanović R; Peco-Antić A; Mache C; Hurles ME; Joksić I; Guć-Šćekić M; Dobricic J; Brankovic-Magic M; Bolz HJ; Pazour GJ; Beales PL; Scambler PJ; Saunier S; Mitchison HM; Bergmann C Hum Mutat; 2013 May; 34(5):714-24. PubMed ID: 23418020 [TBL] [Abstract][Full Text] [Related]
9. Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers. Soyaltın E; Kasap-Demir B; Alparslan C; Arslansoyu-Çamlar S; Öncel EP; Kırbıyık Ö; Alaygut D; Yavaşcan Ö; Türe G; Mutlubaş F Pediatr Nephrol; 2018 May; 33(5):801-803. PubMed ID: 28741273 [No Abstract] [Full Text] [Related]
10. Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. Khan AO; Bolz HJ; Bergmann C J AAPOS; 2014 Apr; 18(2):203-5. PubMed ID: 24698627 [TBL] [Abstract][Full Text] [Related]
11. Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. Low T; Kostakis A; Balasubramanian M Ophthalmic Genet; 2018 Apr; 39(2):286-287. PubMed ID: 29111861 [No Abstract] [Full Text] [Related]
12. Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. Yokota T; Shiojiri T; Gotoda T; Arai H N Engl J Med; 1996 Dec; 335(23):1770-1. PubMed ID: 8965888 [No Abstract] [Full Text] [Related]
13. Case of IFT140-associated Mainzer Saldino Syndrome. Patel SH; Bakhsh S; Conboy E; Hajrasouliha AR Ophthalmic Genet; 2023 Apr; 44(2):208-210. PubMed ID: 36063079 [No Abstract] [Full Text] [Related]