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326 related items for PubMed ID: 28724397

  • 1. 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. PubMed ID: 28724397
    [Abstract] [Full Text] [Related]

  • 2. 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 19; 39(7):983-992. PubMed ID: 29688594
    [Abstract] [Full Text] [Related]

  • 3. 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 04; 90(5):864-70. PubMed ID: 22503633
    [Abstract] [Full Text] [Related]

  • 4. 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 07; 93(5):915-25. PubMed ID: 24140113
    [Abstract] [Full Text] [Related]

  • 5. 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 07; 34(5):714-24. PubMed ID: 23418020
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 63(12):104073. PubMed ID: 33002628
    [Abstract] [Full Text] [Related]

  • 7. Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
    Oud MM, Latour BL, Bakey Z, Letteboer SJ, Lugtenberg D, Wu KM, Cornelissen EAM, Yntema HG, Schmidts M, Roepman R, Bongers EMHF.
    Cilia; 2018 Dec 07; 7():1. PubMed ID: 30479745
    [Abstract] [Full Text] [Related]

  • 8. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
    Rivolta C, Berson EL, Dryja TP.
    Arch Ophthalmol; 2002 Nov 07; 120(11):1566-71. PubMed ID: 12427073
    [Abstract] [Full Text] [Related]

  • 9. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
    Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM.
    Front Genet; 2022 Nov 07; 13():931822. PubMed ID: 35873489
    [Abstract] [Full Text] [Related]

  • 10. 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 07; 91(4):640-646. PubMed ID: 27874174
    [Abstract] [Full Text] [Related]

  • 11. [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 02; 57(11):884-886. PubMed ID: 31665845
    [Abstract] [Full Text] [Related]

  • 12. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
    Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE.
    Mol Vis; 2018 Nov 02; 24():478-484. PubMed ID: 30090012
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  • 14. 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. PubMed ID: 29121203
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 100(6):829-33. PubMed ID: 26359340
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  • 16. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
    Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.
    Hum Mol Genet; 2015 Jan 01; 24(1):230-42. PubMed ID: 25168386
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  • 17. LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
    Soler-Palacín P, Garcia-Prat M, Martín-Nalda A, Franco-Jarava C, Rivière JG, Plaja A, Bezdan D, Bosio M, Martínez-Gallo M, Ossowski S, Colobran R.
    Front Immunol; 2018 Jan 01; 9():2397. PubMed ID: 30386343
    [Abstract] [Full Text] [Related]

  • 18. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 01; 120(6):1239-46. PubMed ID: 23499059
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