Mole SE - Search Results

1

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.

Gardner E, Papi L, Easton DF, Cummings T, Jackson CE, Kaplan M, Love DR, Mole SE, Moore JK, Mulligan LM, et al. Gardner E, et al. Among authors: mole se. Hum Mol Genet. 1993 Mar;2(3):241-6. doi: 10.1093/hmg/2.3.241. Hum Mol Genet. 1993. PMID: 8098977

2

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci.

Decker RA, Ponder BA, Mole SE, Weber JL. Decker RA, et al. Among authors: mole se. Hum Mol Genet. 1992 Dec;1(9):777. doi: 10.1093/hmg/1.9.777. Hum Mol Genet. 1992. PMID: 1302619 No abstract available.

3

A multiple interval physical map of the pericentromeric region of human chromosome 10.

Tunnacliffe A, Jackson MS, Gardner E, Love DR, Moore JK, Mole SE, Mulligan LM, Graham A, Finocchiaro G, Orstavik S, et al. Tunnacliffe A, et al. Among authors: mole se. Hum Genet. 1994 Mar;93(3):313-8. doi: 10.1007/BF00212029. Hum Genet. 1994. PMID: 7907314

4

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2.

Mole SE, Mulligan LM, Healey CS, Ponder BA, Tunnacliffe A. Mole SE, et al. Hum Mol Genet. 1993 Mar;2(3):247-52. doi: 10.1093/hmg/2.3.247. Hum Mol Genet. 1993. PMID: 8098978

5

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, et al. Mulligan LM, et al. Among authors: mole se. Nature. 1993 Jun 3;363(6428):458-60. doi: 10.1038/363458a0. Nature. 1993. PMID: 8099202

6

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.

Gardner E, Mole SE. Gardner E, et al. Among authors: mole se. Front Neurol. 2021 Oct 18;12:754045. doi: 10.3389/fneur.2021.754045. eCollection 2021. Front Neurol. 2021. PMID: 34733232 Free PMC article. Review.

7

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.

Dobloug S, Kjellström U, Anderson G, Gardner E, Mole SE, Sheth J, Puschmann A. Dobloug S, et al. Among authors: mole se. Mol Genet Genomic Med. 2024 Aug;12(8):e2505. doi: 10.1002/mgg3.2505. Mol Genet Genomic Med. 2024. PMID: 39108195 Free PMC article.

8

Characterisation of a boundary between satellite III and alphoid sequences on human chromosome 10.

Jackson MS, Mole SE, Ponder BA. Jackson MS, et al. Among authors: mole se. Nucleic Acids Res. 1992 Sep 25;20(18):4781-7. doi: 10.1093/nar/20.18.4781. Nucleic Acids Res. 1992. PMID: 1408791 Free PMC article.

9

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE. Mitchison HM, et al. Among authors: mole se. Am J Hum Genet. 1995 Mar;56(3):654-62. Am J Hum Genet. 1995. PMID: 7887419 Free PMC article.

10

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH. Taschner PE, et al. Among authors: mole se. Am J Hum Genet. 1995 Mar;56(3):663-8. Am J Hum Genet. 1995. PMID: 7887420 Free PMC article.

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