Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 93

1.

Natural history of Christianson syndrome.

Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE.

Am J Med Genet A. 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093.

2.

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P.

Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13.

3.

Novel SLC9A6 mutations in two families with Christianson syndrome.

Riess A, Rossier E, Krüger R, Dufke A, Beck-Woedl S, Horber V, Alber M, Gläser D, Riess O, Tzschach A.

Clin Genet. 2013 Jun;83(6):596-7. doi: 10.1111/j.1399-0004.2012.01948.x. Epub 2012 Aug 30. No abstract available.

PMID:
22931061
4.

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E.

Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.

PMID:
24630051
5.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM.

Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19.

6.

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Mignot C, Héron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, Legall A, Billette de Villemeur T, Burglen L.

Brain Dev. 2013 Feb;35(2):172-6. doi: 10.1016/j.braindev.2012.03.010. Epub 2012 Apr 26.

PMID:
22541666
7.

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Sinajon P, Verbaan D, So J.

Hum Genet. 2016 Aug;135(8):841-50. doi: 10.1007/s00439-016-1675-5. Epub 2016 May 3. Review.

PMID:
27142213
8.

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B.

Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19.

PMID:
21932316
9.

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

Sikora J, Leddy J, Gulinello M, Walkley SU.

Dis Model Mech. 2016 Jan;9(1):13-23. doi: 10.1242/dmm.022780. Epub 2015 Oct 29.

10.

New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.

Pettigrew AL, Jackson LG, Ledbetter DH.

Am J Med Genet. 1991 Feb-Mar;38(2-3):200-7.

PMID:
2018058
11.

Christianson syndrome: spectrum of neuroimaging findings.

Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A.

Neuropediatrics. 2014 Aug;45(4):247-51. doi: 10.1055/s-0033-1363091. Epub 2013 Nov 27.

PMID:
24285247
12.

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.

Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y, Saitoh S.

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):799-807. doi: 10.1002/ajmg.b.31221. Epub 2011 Aug 2.

PMID:
21812100
14.

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

Strømme P, Dobrenis K, Sillitoe RV, Gulinello M, Ali NF, Davidson C, Micsenyi MC, Stephney G, Ellevog L, Klungland A, Walkley SU.

Brain. 2011 Nov;134(Pt 11):3369-83. doi: 10.1093/brain/awr250. Epub 2011 Sep 29.

15.
16.

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR.

Am J Med Genet A. 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549.

PMID:
18925673
17.

Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.

Zervos A, Hunt KE, Tong HQ, Avallone J, Morales J, Friedman N, Cohen BH, Clark B, Guo S, Gazda H, Beggs AH, Traboulsi EI.

Eur J Ophthalmol. 2002 Jul-Aug;12(4):253-61.

PMID:
12219993
18.

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL.

Mol Cell Probes. 2016 Feb;30(1):44-9. doi: 10.1016/j.mcp.2016.01.003. Epub 2016 Jan 11. Review.

PMID:
26790960
19.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA.

Am J Med Genet A. 2005 Jun 15;135(3):297-301.

PMID:
15887274
20.

[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].

Zhu H, Bao X, Zhang Y.

Zhonghua Er Ke Za Zhi. 2015 Aug;53(8):626-30. Review. Chinese.

PMID:
26717663

Supplemental Content

Support Center