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Results: 1 to 20 of 97

1.

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
[PubMed - in process]
2.

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
[PubMed - in process]
3.

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.

PMID:
18342287
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
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 Jul 14. doi: 10.1002/ana.24225. [Epub ahead of print]

PMID:
25044251
[PubMed - as supplied by publisher]
6.

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.

PMID:
21964919
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
20949524
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.

J Med Genet. 2012 Dec;49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25.

PMID:
23099646
[PubMed - indexed for MEDLINE]
11.

Genetic disorders associated with postnatal microcephaly.

Seltzer LE, Paciorkowski AR.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16.

PMID:
24839169
[PubMed - in process]
12.

Angelman Syndrome.

Dagli AI, Williams CA.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1998 Sep 15 [updated 2011 Jun 16].

PMID:
20301323
[PubMed]
Books & Documents
13.

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.

Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.

PMID:
22236771
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
[PubMed - indexed for MEDLINE]
15.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS.

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

PMID:
24785942
[PubMed - indexed for MEDLINE]
16.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D.

Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171.

PMID:
23924083
[PubMed - indexed for MEDLINE]
17.

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.

Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199. Epub 2009 Nov 11.

PMID:
19904302
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.

Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI.

Neuropediatrics. 1994 Aug;25(4):183-90. Review.

PMID:
7824090
[PubMed - indexed for MEDLINE]
19.

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E.

Cerebellum. 2014 Feb;13(1):79-88. doi: 10.1007/s12311-013-0521-8.

PMID:
24013853
[PubMed - in process]
20.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L.

Eur J Hum Genet. 2013 Jul;21(7):736-42. doi: 10.1038/ejhg.2012.251. Epub 2012 Nov 28.

PMID:
23188044
[PubMed - indexed for MEDLINE]
Free PMC Article

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