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 *

122 related articles for article (PubMed ID: 34673285)

  • 21. Loss-of-function mutation of c-Ret causes cerebellar hypoplasia in mice with Hirschsprung disease and Down's syndrome.
    Ohgami N; Iizuka A; Hirai H; Yajima I; Iida M; Shimada A; Tsuzuki T; Jijiwa M; Asai N; Takahashi M; Kato M
    J Biol Chem; 2021; 296():100389. PubMed ID: 33561442
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Evidence for "Uner Tan Syndrome" as a human model for reverse evolution.
    Tan U
    Int J Neurosci; 2006 Dec; 116(12):1539-47. PubMed ID: 17145687
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A wrist-walker exhibiting no "Uner Tan Syndrome": a theory for possible mechanisms of human devolution toward the atavistic walking patterns.
    Tan U
    Int J Neurosci; 2007 Jan; 117(1):147-56. PubMed ID: 17365105
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome.
    Shapiro LJ; Cole WG; Young JW; Raichlen DA; Robinson SR; Adolph KE
    PLoS One; 2014; 9(7):e101758. PubMed ID: 25029457
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
    Zambonin JL; Bellomo A; Ben-Pazi H; Everman DB; Frazer LM; Geraghty MT; Harper AD; Jones JR; Kamien B; Kernohan K; Koenig MK; Lines M; Palmer EE; Richardson R; Segel R; Tarnopolsky M; Vanstone JR; Gibbons M; Collins A; Fogel BL; ; Dudding-Byth T; Boycott KM
    Orphanet J Rare Dis; 2017 Jun; 12(1):121. PubMed ID: 28659154
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt.
    Zerem A; Hacohen Y; Ben-Sira L; Lev D; Malinger G; Lerman-Sagie T
    J Child Neurol; 2013 Feb; 28(2):279-80. PubMed ID: 23345527
    [No Abstract]   [Full Text] [Related]  

  • 30. Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.
    Obayashi M; Ishikawa K; Izumi Y; Takahashi M; Niimi Y; Sato N; Onodera O; Kaji R; Nishizawa M; Mizusawa H
    J Hum Genet; 2012 Mar; 57(3):202-6. PubMed ID: 22318346
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
    Meng L; Isohanni P; Shao Y; Graham BH; Hickey SE; Brooks S; Suomalainen A; Joset P; Steindl K; Rauch A; Hackenberg A; High FA; Armstrong-Javors A; Mencacci NE; Gonzàlez-Latapi P; Kamel WA; Al-Hashel JY; Bustos BI; Hernandez AV; Krainc D; Lubbe SJ; Van Esch H; De Luca C; Ballon K; Ravelli C; Burglen L; Qebibo L; Calame DG; Mitani T; Marafi D; Pehlivan D; Saadi NW; Sahin Y; Maroofian R; Efthymiou S; Houlden H; Maqbool S; Rahman F; Gu S; Posey JE; Lupski JR; Hunter JV; Wangler MF; Carroll CJ; Yang Y
    Ann Neurol; 2021 Apr; 89(4):828-833. PubMed ID: 33443317
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study.
    Bernardino F; Rentmeister K; Schmidt MJ; Bruehschwein A; Matiasek K; Matiasek LA; Lauda A; Schoon HA; Fischer A
    PLoS One; 2015; 10(2):e0117670. PubMed ID: 25668516
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca
    Casey JP; Hirouchi T; Hisatsune C; Lynch B; Murphy R; Dunne AM; Miyamoto A; Ennis S; van der Spek N; O'Hici B; Mikoshiba K; Lynch SA
    J Neurol; 2017 Jul; 264(7):1444-1453. PubMed ID: 28620721
    [TBL] [Abstract][Full Text] [Related]  

  • 35. An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
    Novak MJ; Sweeney MG; Li A; Treacy C; Chandrashekar HS; Giunti P; Goold RG; Davis MB; Houlden H; Tabrizi SJ
    Mov Disord; 2010 Oct; 25(13):2176-82. PubMed ID: 20669319
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
    van de Leemput J; Chandran J; Knight MA; Holtzclaw LA; Scholz S; Cookson MR; Houlden H; Gwinn-Hardy K; Fung HC; Lin X; Hernandez D; Simon-Sanchez J; Wood NW; Giunti P; Rafferty I; Hardy J; Storey E; Gardner RJ; Forrest SM; Fisher EM; Russell JT; Cai H; Singleton AB
    PLoS Genet; 2007 Jun; 3(6):e108. PubMed ID: 17590087
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.
    Türkmen S; Demirhan O; Hoffmann K; Diers A; Zimmer C; Sperling K; Mundlos S
    J Med Genet; 2006 May; 43(5):461-4. PubMed ID: 16371500
    [TBL] [Abstract][Full Text] [Related]  

  • 38. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
    Biancheri R; Cassandrini D; Pinto F; Trovato R; Di Rocco M; Mirabelli-Badenier M; Pedemonte M; Panicucci C; Trucks H; Sander T; Zara F; Rossi A; Striano P; Minetti C; Santorelli FM
    J Neurol; 2013 Jul; 260(7):1866-70. PubMed ID: 23564332
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
    Sasaki M; Ohba C; Iai M; Hirabayashi S; Osaka H; Hiraide T; Saitsu H; Matsumoto N
    J Neurol; 2015 May; 262(5):1278-84. PubMed ID: 25794864
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.