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Items: 18

1.

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. doi: 10.1002/humu.23539. Epub 2018 May 8.

2.

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN).

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16.

3.

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S.

Hum Mol Genet. 2018 Jan 15;27(2):266-282. doi: 10.1093/hmg/ddx396.

PMID:
29121203
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 19;11(1):16. doi: 10.1186/s40246-017-0111-9.

5.

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR.

Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16.

PMID:
27874174
6.

The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.

Bifari IN, Elkhamary SM, Bolz HJ, Khan AO.

Br J Ophthalmol. 2016 Jun;100(6):829-33. doi: 10.1136/bjophthalmol-2015-307555. Epub 2015 Sep 10.

PMID:
26359340
7.

Nasal nitric oxide in patients with inherited retinal dystrophies.

Heffler E, Marchese C, Boita M, Rolla G.

J Investig Med. 2015 Mar;63(3):554-7. doi: 10.1097/JIM.0000000000000139.

PMID:
25551411
8.

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. doi: 10.1016/j.jaapos.2013.11.016.

PMID:
24698627
9.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

10.

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. doi: 10.1002/humu.22294.

11.

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 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

12.

Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses.

Mortellaro C, Bello L, Pucci A, Lucchina AG, Migliario M.

J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb.

PMID:
20856047
13.

MR findings of dysplastic hips in Saldino-Mainzer syndrome.

Vanhoenacker FM, Van Hoeck K.

JBR-BTR. 2008 Jan-Feb;91(1):21. No abstract available.

PMID:
18447128
14.

Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.

Traboulsi EI, Koenekoop R, Stone EM.

Ophthalmic Genet. 2006 Dec;27(4):113-5.

PMID:
17148037
15.

Hereditary sclerosing glomerulopathy in the conorenal syndrome.

Mendley SR, Poznanski AK, Spargo BH, Langman CB.

Am J Kidney Dis. 1995 May;25(5):792-7.

PMID:
7747734
16.

Leber's congenital amaurosis.

De Laey JJ.

Bull Soc Belge Ophtalmol. 1991;241:41-50. Review.

PMID:
1840995
17.

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).

Ellis DS, Heckenlively JR, Martin CL, Lachman RS, Sakati NA, Rimoin DL.

Am J Ophthalmol. 1984 Feb;97(2):233-9.

PMID:
6696034
18.

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