607 related articles for article (PubMed ID: 27256868)
1. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Masurel-Paulet A; Piton A; Chancenotte S; Redin C; Thauvin-Robinet C; Henrenger Y; Minot D; Creppy A; Ruffier-Bourdet M; Thevenon J; Kuentz P; Lehalle D; Curie A; Blanchard G; Ghosn E; Bonnet M; Archimbaud-Devilliers M; Huet F; Perret O; Philip N; Mandel JL; Faivre L
Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
[TBL] [Abstract][Full Text] [Related]
2. Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
Yalcintepe S; Gurkan H
Clin Dysmorphol; 2021 Jan; 30(1):36-38. PubMed ID: 33278113
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 27142213
[TBL] [Abstract][Full Text] [Related]
4. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.
Zhang X; Wu X; Liu H; Song T; Jiang Y; He H; Yang S; Xie Y
J Clin Lab Anal; 2022 Jan; 36(1):e24123. PubMed ID: 34791706
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 24285247
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 26515654
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 18342287
[TBL] [Abstract][Full Text] [Related]
8. A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
Ilie A; Gao AYL; Boucher A; Park J; Berghuis AM; Hoffer MJV; Hilhorst-Hofstee Y; McKinney RA; Orlowski J
Neurobiol Dis; 2019 Jan; 121():187-204. PubMed ID: 30296617
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 25044251
[TBL] [Abstract][Full Text] [Related]
10. A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A; Gao AY; Reid J; Boucher A; McEwan C; Barrière H; Lukacs GL; McKinney RA; Orlowski J
Mol Neurodegener; 2016 Sep; 11(1):63. PubMed ID: 27590723
[TBL] [Abstract][Full Text] [Related]
11. A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
Gao AYL; Ilie A; Chang PKY; Orlowski J; McKinney RA
Neurobiol Dis; 2019 Oct; 130():104490. PubMed ID: 31175985
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 24630051
[TBL] [Abstract][Full Text] [Related]
13. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML; de Bellescize J; Till M; Flurin V; Labalme A; Chatron N; Sanlaville D; Chemaly N; des Portes V; Ostrowsky K; Arzimanoglou A; Lesca G
Eur J Paediatr Neurol; 2018 Nov; 22(6):1124-1132. PubMed ID: 30126759
[TBL] [Abstract][Full Text] [Related]
14. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Lambert S; Maystadt I; Boulanger S; Vrielynck P; Destrée A; Lederer D; Moortgat S
Eur J Med Genet; 2016 Oct; 59(10):522-5. PubMed ID: 27465203
[TBL] [Abstract][Full Text] [Related]
15. Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.
Coorg R; Weisenberg JL
Pediatr Neurol; 2015 Dec; 53(6):527-31. PubMed ID: 26421989
[TBL] [Abstract][Full Text] [Related]
16. Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.
Kerner-Rossi M; Gulinello M; Walkley S; Dobrenis K
Neurobiol Learn Mem; 2019 Nov; 165():106867. PubMed ID: 29772390
[TBL] [Abstract][Full Text] [Related]
17. Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with
Padmanabha H; Saini AG; Sahu JK; Singhi P
BMJ Case Rep; 2017 Dec; 2017():. PubMed ID: 29275387
[No Abstract] [Full Text] [Related]
18. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
[TBL] [Abstract][Full Text] [Related]
19. BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
[TBL] [Abstract][Full Text] [Related]
20. Genetic disorders associated with postnatal microcephaly.
Seltzer LE; Paciorkowski AR
Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):140-55. PubMed ID: 24839169
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
