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Items: 16

1.

A novel mouse model of creatine transporter deficiency.

Baroncelli L, Alessandrì MG, Tola J, Putignano E, Migliore M, Amendola E, Gross C, Leuzzi V, Cioni G, Pizzorusso T.

F1000Res. 2014 Sep 29;3:228. doi: 10.12688/f1000research.5369.1. eCollection 2014.

2.

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R, Ropers HH, Gärtner J, Zirn B.

JIMD Rep. 2014;13:91-9. doi: 10.1007/8904_2013_261. Epub 2013 Nov 5.

3.

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

Marshall LS, Simon J, Wood T, Peng M, Owen R, Feldman GS, Zaragoza MV.

BMC Med Genet. 2013 May 1;14:49. doi: 10.1186/1471-2350-14-49.

4.

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM.

J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10.

5.

The genetic basis of non-syndromic intellectual disability: a review.

Kaufman L, Ayub M, Vincent JB.

J Neurodev Disord. 2010 Dec;2(4):182-209. Epub 2010 Jul 29.

6.

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, Massacrier A, Délepine M, Dessen P, Lazar V, Robaglia-Schlupp A, Lesca G, Jouve E, Rudolf G, Rochette J, Lathrop GM, Szepetowski P.

PLoS One. 2010 Oct 29;5(10):e13750. doi: 10.1371/journal.pone.0013750.

7.

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS.

Eur J Hum Genet. 2011 Jan;19(1):56-63. doi: 10.1038/ejhg.2010.134. Epub 2010 Aug 18.

8.

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.

Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A.

Am J Hum Genet. 2007 Apr;80(4):751-8. Epub 2007 Feb 26.

9.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ.

Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4.

10.

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D.

J Inherit Metab Dis. 2006 Feb;29(1):214-9. Erratum in: J Inherit Metab Dis. 2006 Dec;29(6):764. Anselm, IM [corrected to Anselm, IA].

11.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.

Am J Hum Genet. 2005 Sep;77(3):442-53. Epub 2005 Jul 29.

12.

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL.

Am J Hum Genet. 2004 Aug;75(2):318-24. Epub 2004 Jun 7.

13.

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.

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.
16.

Human, rat and chicken small intestinal Na+ - Cl- -creatine transporter: functional, molecular characterization and localization.

Peral MJ, García-Delgado M, Calonge ML, Durán JM, De La Horra MC, Wallimann T, Speer O, Ilundáin A.

J Physiol. 2002 Nov 15;545(Pt 1):133-44.

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