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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 29663667)

  • 1. 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; 176(6):1427-1431. PubMed ID: 29663667
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; ; Lewis RA; Levin AV; Capasso J; Craigen WJ; Rosenfeld JA; Lee B; Burrage LC
    Am J Med Genet A; 2021 Aug; 185(8):2315-2324. PubMed ID: 33949769
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 61(3):134-138. PubMed ID: 29169895
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 98(5):971-980. PubMed ID: 27108797
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
    McEntagart M; Williamson KA; Rainger JK; Wheeler A; Seawright A; De Baere E; Verdin H; Bergendahl LT; Quigley A; Rainger J; Dixit A; Sarkar A; López Laso E; Sanchez-Carpintero R; Barrio J; Bitoun P; Prescott T; Riise R; McKee S; Cook J; McKie L; Ceulemans B; Meire F; Temple IK; Prieur F; Williams J; Clouston P; Németh AH; Banka S; Bengani H; Handley M; Freyer E; Ross A; ; van Heyningen V; Marsh JA; Elmslie F; FitzPatrick DR
    Am J Hum Genet; 2016 May; 98(5):981-992. PubMed ID: 27108798
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
    Dentici ML; Barresi S; Nardella M; Bellacchio E; Alfieri P; Bruselles A; Pantaleoni F; Danieli A; Iarossi G; Cappa M; Bertini E; Tartaglia M; Zanni G
    Gene; 2017 Sep; 628():141-145. PubMed ID: 28698159
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
    Tolonen JP; Parolin Schnekenberg R; McGowan S; Sims D; McEntagart M; Elmslie F; Shears D; Stewart H; Tofaris GK; Dabir T; Morrison PJ; Johnson D; Hadjivassiliou M; Ellard S; Shaw-Smith C; Znaczko A; Dixit A; Suri M; Sarkar A; Harrison RE; Jones G; Houlden H; Ceravolo G; Jarvis J; Williams J; Shanks ME; Clouston P; Rankin J; Blumkin L; Lerman-Sagie T; Ponger P; Raskin S; Granath K; Uusimaa J; Conti H; McCann E; Joss S; Blakes AJM; Metcalfe K; Kingston H; Bertoli M; Kneen R; Lynch SA; Martínez Albaladejo I; Moore AP; Jones WD; ; Becker EBE; Németh AH
    Mov Disord; 2024 Jan; 39(1):141-151. PubMed ID: 37964426
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
    Kinoshita A; Ohyama K; Tanimura S; Matsuda K; Kishino T; Negishi Y; Asahina N; Shiraishi H; Hosoki K; Tomiwa K; Ishihara N; Mishima H; Mori R; Nakashima M; Saitoh S; Yoshiura KI
    Development; 2021 Aug; 148(16):. PubMed ID: 34338282
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 18(1):308. PubMed ID: 30249237
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
    Stendel C; Wagner M; Rudolph G; Klopstock T
    Neuropediatrics; 2019 Dec; 50(6):382-386. PubMed ID: 31340402
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
    Klar J; Ali Z; Farooq M; Khan K; Wikström J; Iqbal M; Zulfiqar S; Faryal S; Baig SM; Dahl N
    Eur J Hum Genet; 2017 Jun; 25(7):848-853. PubMed ID: 28488678
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 194(9):e63655. PubMed ID: 38711238
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
    Huang L; Chardon JW; Carter MT; Friend KL; Dudding TE; Schwartzentruber J; Zou R; Schofield PW; Douglas S; Bulman DE; Boycott KM
    Orphanet J Rare Dis; 2012 Sep; 7():67. PubMed ID: 22986007
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.
    Das J; Lilleker J; Shereef H; Ealing J
    Neurol Neurochir Pol; 2017; 51(6):497-500. PubMed ID: 28826917
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 91(1):86-91. PubMed ID: 27062503
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
    Phulpagar P; Holla VV; Tomar D; Kamble N; Yadav R; Pal PK; Muthusamy B
    J Hum Genet; 2023 Dec; 68(12):859-866. PubMed ID: 37752213
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The genetic architecture of aniridia and Gillespie syndrome.
    Hall HN; Williamson KA; FitzPatrick DR
    Hum Genet; 2019 Sep; 138(8-9):881-898. PubMed ID: 30242502
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Gillespie syndrome: an uncommon presentation of congenital aniridia].
    Defreyn A; Maugery J; Chabrier S; Coullet J
    J Fr Ophtalmol; 2007 Jan; 30(1):e1. PubMed ID: 17287663
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 12(11):e0187503. PubMed ID: 29186133
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.
    Wang L; Hao Y; Yu P; Cao Z; Zhang J; Zhang X; Chen Y; Zhang H; Gu W
    Cerebellum; 2018 Jun; 17(3):294-299. PubMed ID: 29196976
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.