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Items: 11

1.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C.

J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856.

PMID:
22693284
2.

Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.

Petriczko E, Biczysko-Mokosa A, Bogdanowicz J, Constantinou M, Zdziennicka E, Horodnicka-Jozwa A, Barg E, Gawlik-Zawislak S, Sulek-Piatkowska A, Dawid G, Walczak M, Pesz K, Kedzia A, Zajaczek S.

Am J Med Genet A. 2012 Jun;158A(6):1442-6. doi: 10.1002/ajmg.a.35345. Epub 2012 May 11. Review.

PMID:
22581569
3.

Non-progressive congenital ataxia with cerebellar hypoplasia in three families.

Yapici Z, Eraksoy M.

Acta Paediatr. 2005 Feb;94(2):248-53. Review.

PMID:
15981765
4.

Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.

Damji KF, Allingham RR, Pollock SC, Small K, Lewis KE, Stajich JM, Yamaoka LH, Vance JM, Pericak-Vance MA.

Arch Neurol. 1996 Apr;53(4):338-44. Review.

PMID:
8929156
5.

Exome sequencing and the genetics of intellectual disability.

Topper S, Ober C, Das S.

Clin Genet. 2011 Aug;80(2):117-26. doi: 10.1111/j.1399-0004.2011.01720.x. Epub 2011 Jun 15. Review.

6.

Genetics of recessive cognitive disorders.

Musante L, Ropers HH.

Trends Genet. 2014 Jan;30(1):32-9. doi: 10.1016/j.tig.2013.09.008. Epub 2013 Oct 28. Review.

PMID:
24176302
7.

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.

Khan MA, Khan S, Windpassinger C, Badar M, Nawaz Z, Mohammad RM.

Ann Hum Genet. 2016 Nov;80(6):342-368. doi: 10.1111/ahg.12176. Review.

PMID:
27870114
8.

Genetic basis of intellectual disability.

Ellison JW, Rosenfeld JA, Shaffer LG.

Annu Rev Med. 2013;64:441-50. doi: 10.1146/annurev-med-042711-140053. Epub 2012 Sep 27. Review.

PMID:
23020879
9.

Genetics of early onset cognitive impairment.

Ropers HH.

Annu Rev Genomics Hum Genet. 2010;11:161-87. doi: 10.1146/annurev-genom-082509-141640. Review.

PMID:
20822471
10.

Autosomal recessive spinocerebellar ataxias in Japan.

Tanaka F, Doi H, Kunii M.

Rinsho Shinkeigaku. 2016 Jun 22;56(6):395-9. doi: 10.5692/clinicalneurol.cn-000879. Epub 2016 May 14. Review. Japanese.

PMID:
27181749
11.

Next-Generation Sequencing in Intellectual Disability.

Carvill GL, Mefford HC.

J Pediatr Genet. 2015 Sep;4(3):128-35. doi: 10.1055/s-0035-1564439. Epub 2015 Oct 12. Review.

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