Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 181

1.

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
2.

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC.

Clin Genet. 2004 Oct;66(4):318-26.

PMID:
15355434
3.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.

Eur J Hum Genet. 2007 Jan;15(1):29-34. Epub 2006 Oct 11.

4.

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.

Frints SG, Froyen G, Marynen P, Fryns JP.

Clin Genet. 2002 Dec;62(6):423-32. Review.

PMID:
12485186
5.

Renpenning syndrome comes into focus.

Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE.

Am J Med Genet A. 2005 May 1;134(4):415-21.

PMID:
15782410
6.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.

Eur J Hum Genet. 2006 Apr;14(4):418-25.

7.

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 Apr-Jun;48(2):145-52. Epub 2005 Feb 12.

PMID:
16053905
8.

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H.

Eur J Med Genet. 2011 May-Jun;54(3):241-6. doi: 10.1016/j.ejmg.2011.01.010. Epub 2011 Feb 26.

PMID:
21315190
9.

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE.

J Med Genet. 2006 Jun;43(6):e30.

10.

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
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 25;6:16.

12.

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

Cilliers DD, Parveen R, Clayton P, Cairns SA, Clarke S, Shalet SM, Black GC, Newman WG, Clayton-Smith J.

Eur J Med Genet. 2007 May-Jun;50(3):216-23. Epub 2007 Jan 27.

PMID:
17369115
13.

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
14.

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM.

Am J Hum Genet. 2003 Dec;73(6):1341-54. Epub 2003 Nov 18.

15.

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G.

Am J Med Genet A. 2003 Jun 15;119A(3):367-74.

PMID:
12784308
16.

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H.

Tunis Med. 2009 May;87(5):311-8. Review.

17.

X-linked mental retardation.

Lisik MZ, Sieron AL.

Med Sci Monit. 2008 Nov;14(11):RA221-9. Review.

PMID:
18971887
18.

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS.

Am J Hum Genet. 2004 Jul;75(1):97-105. Epub 2004 May 20.

19.

[X-linked mental retardation].

Billuart P, Chelly J, Gilgenkrantz S.

Med Sci (Paris). 2005 Nov;21(11):947-53. Review. French.

20.

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. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552.

Items per page

Supplemental Content

Write to the Help Desk