Schanen C - Search Results

1

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: schanen c. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.

2

The genetic basis of Rett syndrome: candidate gene considerations.

Percy AK, Schanen C, Dure LS 4th. Percy AK, et al. Among authors: schanen c. Mol Genet Metab. 1998 May;64(1):1-6. doi: 10.1006/mgme.1998.2688. Mol Genet Metab. 1998. PMID: 9682211 Review. No abstract available.

3

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK. Chapleau CA, et al. Among authors: schanen c. Am J Med Genet A. 2013 Jul;161A(7):1638-46. doi: 10.1002/ajmg.a.35979. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696494 Free PMC article.

4

Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.

5

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A. Schanen C, et al. Am J Med Genet A. 2004 Apr 15;126A(2):129-40. doi: 10.1002/ajmg.a.20571. Am J Med Genet A. 2004. PMID: 15057977

6

Variable phenotypic expression of a MECP2 mutation in a family.

Augenstein K, Lane JB, Horton A, Schanen C, Percy AK. Augenstein K, et al. Among authors: schanen c. J Neurodev Disord. 2009 Dec;1(4):313. doi: 10.1007/s11689-009-9034-7. J Neurodev Disord. 2009. PMID: 20151026 Free PMC article.

7

Rett syndrome: a surprising result of mutation in MECP2.

Dragich J, Houwink-Manville I, Schanen C. Dragich J, et al. Among authors: schanen c. Hum Mol Genet. 2000 Oct;9(16):2365-75. doi: 10.1093/hmg/9.16.2365. Hum Mol Genet. 2000. PMID: 11005791 Review.

8

Rethinking the fate of males with mutations in the gene that causes Rett syndrome.

Schanen C. Schanen C. Brain Dev. 2001 Dec;23 Suppl 1:S144-6. doi: 10.1016/s0387-7604(01)00340-0. Brain Dev. 2001. PMID: 11738861 Review.

9

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

Schanen C, Francke U. Schanen C, et al. Am J Hum Genet. 1998 Jul;63(1):267-9. doi: 10.1086/301932. Am J Hum Genet. 1998. PMID: 9637791 Free PMC article. No abstract available.

10

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M. Kudo S, et al. Among authors: schanen c. J Med Genet. 2003 Jul;40(7):487-93. doi: 10.1136/jmg.40.7.487. J Med Genet. 2003. PMID: 12843318 Free PMC article.

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