Hoyle J - Search Results

1

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.

Denais C, Dent CL, Southgate L, Hoyle J, Dafou D, Trembath RC, Machado RD. Denais C, et al. Among authors: hoyle j. Hum Mutat. 2011 Feb;32(2):231-9. doi: 10.1002/humu.21413. Hum Mutat. 2011. PMID: 21280149

2

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S, Taly AB, Raghavendra S, Müller F, Maher ER, Trembath RC. Southgate L, et al. Among authors: hoyle j. Neurogenetics. 2010 Oct;11(4):379-89. doi: 10.1007/s10048-010-0243-8. Neurogenetics. 2010. PMID: 20390432 Free PMC article.

3

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.

Shangaris P, Ho A, Marnerides A, George S, AlAdnani M, Yau S, Jansson M, Hoyle J, Ahn JW, Ellard S, Irving M, Wellesley D, Pasupathy D, Holder-Espinasse M. Shangaris P, et al. Among authors: hoyle j. BMC Med Genomics. 2021 Feb 26;14(1):58. doi: 10.1186/s12920-021-00901-6. BMC Med Genomics. 2021. PMID: 33637067 Free PMC article.

4

Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome.

Hoyle J, Yulug IG, Johnstone K, Scambler PJ, Fisher EM. Hoyle J, et al. Hum Genet. 1996 Jan;97(1):117-20. doi: 10.1007/BF00218845. Hum Genet. 1996. PMID: 8557251

5

Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits.

Turner KJ, Hoyle J, Valdivia LE, Cerveny KL, Hart W, Mangoli M, Geisler R, Rees M, Houart C, Poole RJ, Wilson SW, Gestri G. Turner KJ, et al. Among authors: hoyle j. PLoS One. 2019 Jan 29;14(1):e0211073. doi: 10.1371/journal.pone.0211073. eCollection 2019. PLoS One. 2019. PMID: 30695021 Free PMC article.

6

The gene that encodes the phosphatidylinositol-3 kinase regulatory subunit (p85 alpha) maps to chromosome 13 in the mouse.

Hoyle J, Yulug IG, Egan SE, Fisher EM. Hoyle J, et al. Genomics. 1994 Nov 15;24(2):400-2. doi: 10.1006/geno.1994.1638. Genomics. 1994. PMID: 7698770 No abstract available.

7

Genomic organization and mapping of the mouse P26s4 ATPase gene: a member of the remarkably conserved AAA gene family.

Hoyle J, Fisher EM. Hoyle J, et al. Genomics. 1996 Jan 1;31(1):115-8. doi: 10.1006/geno.1996.0017. Genomics. 1996. PMID: 8808288

8

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.

9

Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1).

Hoyle J, Tan KH, Fisher EM. Hoyle J, et al. Hum Genet. 1997 Feb;99(2):285-8. doi: 10.1007/s004390050356. Hum Genet. 1997. PMID: 9048938

10

The gene encoding tripeptidyl peptidase II maps to chromosome 1 in the mouse.

Bermingham NA, McKay T, Hoyle J, Hernandez D, Martin JE, Fisher EM. Bermingham NA, et al. Among authors: hoyle j. Mamm Genome. 1996 May;7(5):390. doi: 10.1007/BF03035314. Mamm Genome. 1996. PMID: 8661741 No abstract available.

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