BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 17186471)

  • 1. Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
    Tarpey PS; Stevens C; Teague J; Edkins S; O'Meara S; Avis T; Barthorpe S; Buck G; Butler A; Cole J; Dicks E; Gray K; Halliday K; Harrison R; Hills K; Hinton J; Jones D; Menzies A; Mironenko T; Perry J; Raine K; Richardson D; Shepherd R; Small A; Tofts C; Varian J; West S; Widaa S; Yates A; Catford R; Butler J; Mallya U; Moon J; Luo Y; Dorkins H; Thompson D; Easton DF; Wooster R; Bobrow M; Carpenter N; Simensen RJ; Schwartz CE; Stevenson RE; Turner G; Partington M; Gecz J; Stratton MR; Futreal PA; Raymond FL
    Am J Hum Genet; 2006 Dec; 79(6):1119-24. PubMed ID: 17186471
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
    Borck G; Mollà-Herman A; Boddaert N; Encha-Razavi F; Philippe A; Robel L; Desguerre I; Brunelle F; Benmerah A; Munnich A; Colleaux L
    Hum Mutat; 2008 Jul; 29(7):966-74. PubMed ID: 18428203
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.
    Huo L; Teng Z; Wang H; Liu X
    Brain Behav; 2019 Mar; 9(3):e01221. PubMed ID: 30714330
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
    Saillour Y; Zanni G; Des Portes V; Heron D; Guibaud L; Iba-Zizen MT; Pedespan JL; Poirier K; Castelnau L; Julien C; Franconnet C; Bonthron D; Porteous ME; Chelly J; Bienvenu T
    J Med Genet; 2007 Nov; 44(11):739-44. PubMed ID: 17617514
    [TBL] [Abstract][Full Text] [Related]  

  • 5. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
    Cacciagli P; Desvignes JP; Girard N; Delepine M; Zelenika D; Lathrop M; Lévy N; Ledbetter DH; Dobyns WB; Villard L
    Eur J Hum Genet; 2014 Mar; 22(3):363-8. PubMed ID: 23756445
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
    Ballarati L; Cereda A; Caselli R; Maitz S; Russo S; Selicorni A; Larizza L; Giardino D
    Eur J Med Genet; 2012 Feb; 55(2):124-7. PubMed ID: 22210230
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
    Zhu D; Wang M; Xu Y; Zhang J; Yang F; Yang Z
    Neurogenetics; 2022 Jul; 23(3):179-185. PubMed ID: 35391588
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
    Abidi FE; Holloway L; Moore CA; Weaver DD; Simensen RJ; Stevenson RE; Rogers RC; Schwartz CE
    J Med Genet; 2008 Dec; 45(12):787-93. PubMed ID: 18697827
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
    Kalscheuer VM; Freude K; Musante L; Jensen LR; Yntema HG; Gécz J; Sefiani A; Hoffmann K; Moser B; Haas S; Gurok U; Haesler S; Aranda B; Nshedjan A; Tzschach A; Hartmann N; Roloff TC; Shoichet S; Hagens O; Tao J; Van Bokhoven H; Turner G; Chelly J; Moraine C; Fryns JP; Nuber U; Hoeltzenbein M; Scharff C; Scherthan H; Lenzner S; Hamel BC; Schweiger S; Ropers HH
    Nat Genet; 2003 Dec; 35(4):313-5. PubMed ID: 14634649
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
    Hackett A; Tarpey PS; Licata A; Cox J; Whibley A; Boyle J; Rogers C; Grigg J; Partington M; Stevenson RE; Tolmie J; Yates JR; Turner G; Wilson M; Futreal AP; Corbett M; Shaw M; Gecz J; Raymond FL; Stratton MR; Schwartz CE; Abidi FE
    Eur J Hum Genet; 2010 May; 18(5):544-52. PubMed ID: 20029458
    [TBL] [Abstract][Full Text] [Related]  

  • 11. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.
    Stepp ML; Cason AL; Finnis M; Mangelsdorf M; Holinski-Feder E; Macgregor D; MacMillan A; Holden JJ; Gecz J; Stevenson RE; Schwartz CE
    BMC Med Genet; 2005 Apr; 6():16. PubMed ID: 15850492
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
    Raymond FL; Tarpey PS; Edkins S; Tofts C; O'Meara S; Teague J; Butler A; Stevens C; Barthorpe S; Buck G; Cole J; Dicks E; Gray K; Halliday K; Hills K; Hinton J; Jones D; Menzies A; Perry J; Raine K; Shepherd R; Small A; Varian J; Widaa S; Mallya U; Moon J; Luo Y; Shaw M; Boyle J; Kerr B; Turner G; Quarrell O; Cole T; Easton DF; Wooster R; Bobrow M; Schwartz CE; Gecz J; Stratton MR; Futreal PA
    Am J Hum Genet; 2007 May; 80(5):982-7. PubMed ID: 17436253
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
    Field M; Tarpey PS; Smith R; Edkins S; O'Meara S; Stevens C; Tofts C; Teague J; Butler A; Dicks E; Barthorpe S; Buck G; Cole J; Gray K; Halliday K; Hills K; Jenkinson A; Jones D; Menzies A; Mironenko T; Perry J; Raine K; Richardson D; Shepherd R; Small A; Varian J; West S; Widaa S; Mallya U; Wooster R; Moon J; Luo Y; Hughes H; Shaw M; Friend KL; Corbett M; Turner G; Partington M; Mulley J; Bobrow M; Schwartz C; Stevenson R; Gecz J; Stratton MR; Futreal PA; Raymond FL
    Am J Hum Genet; 2007 Aug; 81(2):367-74. PubMed ID: 17668385
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
    Montpetit A; Côté S; Brustein E; Drouin CA; Lapointe L; Boudreau M; Meloche C; Drouin R; Hudson TJ; Drapeau P; Cossette P
    PLoS Genet; 2008 Dec; 4(12):e1000296. PubMed ID: 19057675
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.
    Lazzaro MA; Todd MA; Lavigne P; Vallee D; De Maria A; Picketts DJ
    BMC Med Genet; 2008 Feb; 9():11. PubMed ID: 18302774
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
    Tarpey PS; Smith R; Pleasance E; Whibley A; Edkins S; Hardy C; O'Meara S; Latimer C; Dicks E; Menzies A; Stephens P; Blow M; Greenman C; Xue Y; Tyler-Smith C; Thompson D; Gray K; Andrews J; Barthorpe S; Buck G; Cole J; Dunmore R; Jones D; Maddison M; Mironenko T; Turner R; Turrell K; Varian J; West S; Widaa S; Wray P; Teague J; Butler A; Jenkinson A; Jia M; Richardson D; Shepherd R; Wooster R; Tejada MI; Martinez F; Carvill G; Goliath R; de Brouwer AP; van Bokhoven H; Van Esch H; Chelly J; Raynaud M; Ropers HH; Abidi FE; Srivastava AK; Cox J; Luo Y; Mallya U; Moon J; Parnau J; Mohammed S; Tolmie JL; Shoubridge C; Corbett M; Gardner A; Haan E; Rujirabanjerd S; Shaw M; Vandeleur L; Fullston T; Easton DF; Boyle J; Partington M; Hackett A; Field M; Skinner C; Stevenson RE; Bobrow M; Turner G; Schwartz CE; Gecz J; Raymond FL; Futreal PA; Stratton MR
    Nat Genet; 2009 May; 41(5):535-43. PubMed ID: 19377476
    [TBL] [Abstract][Full Text] [Related]  

  • 17. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
    Van Esch H; Zanni G; Holvoet M; Borghgraef M; Chelly J; Fryns JP; Devriendt K
    Eur J Med Genet; 2005; 48(2):145-52. PubMed ID: 16053905
    [TBL] [Abstract][Full Text] [Related]  

  • 18. AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
    Klee KMC; Janecke AR; Civan HA; Rosipal Š; Heinz-Erian P; Huber LA; Müller T; Vogel GF
    Hum Genet; 2020 Oct; 139(10):1247-1259. PubMed ID: 32306098
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [X-linked mental retardation--treatment scheme].
    Lisik MZ; Sieroń AL
    Wiad Lek; 2008; 61(4-6):146-53. PubMed ID: 18939366
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
    Poirier K; Lacombe D; Gilbert-Dussardier B; Raynaud M; Desportes V; de Brouwer AP; Moraine C; Fryns JP; Ropers HH; Beldjord C; Chelly J; Bienvenu T
    Neurogenetics; 2006 Mar; 7(1):39-46. PubMed ID: 16235064
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.