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Journal Abstract Search

294 related items for PubMed ID: 27108798

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  • 2. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
    Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.
    Am J Hum Genet; 2016 May 05; 98(5):971-980. PubMed ID: 27108797
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  • 3. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
    Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC.
    Am J Med Genet A; 2021 Aug 05; 185(8):2315-2324. PubMed ID: 33949769
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  • 4. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
    Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM.
    Eur J Med Genet; 2018 Mar 05; 61(3):134-138. PubMed ID: 29169895
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  • 6. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
    Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR.
    Am J Med Genet A; 2018 Jun 05; 176(6):1427-1431. PubMed ID: 29663667
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  • 10. Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H.
    BMC Pediatr; 2018 Sep 24; 18(1):308. PubMed ID: 30249237
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  • 12. Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
    Harris S, Putra M, Gilmore KL, Vora NL.
    Prenat Diagn; 2023 Oct 24; 43(11):1463-1466. PubMed ID: 37705153
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  • 13. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
    Hsiao CT, Liu YT, Liao YC, Hsu TY, Lee YC, Soong BW.
    PLoS One; 2017 Oct 24; 12(11):e0187503. PubMed ID: 29186133
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  • 14. Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
    Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G.
    Clin Genet; 2017 Jan 24; 91(1):86-91. PubMed ID: 27062503
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  • 15. Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
    Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F.
    Int J Mol Sci; 2022 Jun 16; 23(12):. PubMed ID: 35743164
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  • 16. Retrocollis as the cardinal feature in a de novo ITRP1 variant.
    Zachou A, Palaiologou D, Kanavakis E, Anagnostou E.
    Brain Dev; 2022 May 16; 44(5):347-352. PubMed ID: 35148930
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  • 18. ITPR1: The missing gene in miosis-ataxia syndrome?
    Chesneau B, Calvas P, Cassagne M, Varenne F, Rozet JM, Bonneville F, Chassaing N, Fournié P, Fares-Taie L, Plaisancié J.
    Am J Med Genet A; 2024 Sep 16; 194(9):e63655. PubMed ID: 38711238
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