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Items: 1 to 20 of 128

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. Epub 2006 Nov 1.

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. doi: 10.1002/humu.20531.

PMID:
18428203
3.

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. Epub 2007 Jul 6.

4.

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. doi: 10.1016/j.ejmg.2011.12.001. Epub 2011 Dec 17.

PMID:
22210230
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. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12.

6.

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. Epub 2007 Mar 20.

7.

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. Epub 2007 Jun 26.

8.

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. Epub 2003 Nov 23.

PMID:
14634649
9.

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 25;6:16.

10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
11.

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. Epub 2005 Oct 19.

PMID:
16235064
12.

Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.

Rujirabanjerd S, Tongsippunyoo K, Sripo T, Limprasert P.

Eur J Med Genet. 2007 Sep-Oct;50(5):346-54. Epub 2007 May 27.

PMID:
17613295
13.

The ARX mutations: a frequent cause of X-linked mental retardation.

Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T.

Am J Med Genet A. 2006 Apr 1;140(7):727-32.

PMID:
16523516
14.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H.

Am J Hum Genet. 2006 Feb;78(2):265-78. Epub 2005 Dec 29. Erratum in: Am J Hum Genet. 2006 May;78(5):897.

15.

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Christophe-Hobertus C, Kooy F, Gecz J, Abramowicz MJ, Holinski-Feder E, Schwartz C, Christophe D.

BMC Med Genet. 2004 Sep 2;5:22.

16.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC.

Hum Mutat. 2007 Feb;28(2):207-8.

PMID:
17221867
17.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, 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, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M.

Am J Hum Genet. 2007 Feb;80(2):345-52. Epub 2007 Jan 4.

18.

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N.

Eur J Hum Genet. 2008 Nov;16(11):1358-63. doi: 10.1038/ejhg.2008.103. Epub 2008 Jun 4.

19.

X-linked mental retardation: further lumping, splitting and emerging phenotypes.

Kleefstra T, Hamel BC.

Clin Genet. 2005 Jun;67(6):451-67. Review. Erratum in: Clin Genet. 2006 Feb;69(2):197.

PMID:
15857409
20.

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

Troester MM, Trachtenberg T, Narayanan V.

J Child Neurol. 2007 Jun;22(6):744-8.

PMID:
17641262
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