Francis D - Search Results

1

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE. Hwang YT, et al. Among authors: francis d. Genes (Basel). 2016 Sep 21;7(9):68. doi: 10.3390/genes7090068. Genes (Basel). 2016. PMID: 27657133 Free PMC article.

2

"Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.

Loesch DZ, Petrovic V, Francis DI, Oertel R, Slater H. Loesch DZ, et al. Among authors: francis di. Clin Genet. 1997 Jan;51(1):1-6. doi: 10.1111/j.1399-0004.1997.tb02405.x. Clin Genet. 1997. PMID: 9084926

3

Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.

Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR. Delatycki MB, et al. Among authors: francis d. J Med Genet. 1999 Apr;36(4):335-8. J Med Genet. 1999. PMID: 10227406 Free PMC article.

4

Identification of small FRAXA premutations.

Francis D, Burgess T, Mitchell J, Slater H. Francis D, et al. Mol Diagn. 2000 Sep;5(3):221-5. doi: 10.1054/modi.2000.9809. Mol Diagn. 2000. PMID: 11070156

5

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U. Schüle B, et al. BMC Med Genet. 2005 May 6;6:18. doi: 10.1186/1471-2350-6-18. BMC Med Genet. 2005. PMID: 15877813 Free PMC article.

6

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, Slater HR. Bruno DL, et al. Among authors: francis di. Am J Med Genet A. 2006 Dec 15;140(24):2786-93. doi: 10.1002/ajmg.a.31552. Am J Med Genet A. 2006. PMID: 17106871

7

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Loesch DZ, Godler DE, Evans A, Bui QM, Gehling F, Kotschet KE, Trost N, Storey E, Stimpson P, Kinsella G, Francis D, Thorburn DR, Venn A, Slater HR, Horne M. Loesch DZ, et al. Among authors: francis d. Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362. Genet Med. 2011. PMID: 21270637 Free PMC article.

8

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

Godler DE, Slater HR, Bui QM, Ono M, Gehling F, Francis D, Amor DJ, Hopper JL, Hagerman R, Loesch DZ. Godler DE, et al. Among authors: francis d. J Mol Diagn. 2011 Sep;13(5):528-36. doi: 10.1016/j.jmoldx.2011.05.006. Epub 2011 Jun 30. J Mol Diagn. 2011. PMID: 21723415 Free PMC article.

9

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, Hills L, James PA, O'Rielly D, Oertel R, Savarirayan R, Prabhakara K, Salce N, Slater HR. Bruno DL, et al. Among authors: francis d. Hum Mutat. 2011 Dec;32(12):1500-6. doi: 10.1002/humu.21581. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21850686

10

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.

Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR. Bruno DL, et al. Among authors: francis d. J Med Genet. 2011 Dec;48(12):831-9. doi: 10.1136/jmedgenet-2011-100372. Epub 2011 Oct 29. J Med Genet. 2011. PMID: 22039585

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