Fantes JA - Search Results

1

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

Aalfs CM, Fantes JA, Wenniger-Prick LJ, Sluijter S, Hennekam RC, van Heyningen V, Hoovers JM. Aalfs CM, et al. Among authors: fantes ja. Am J Med Genet. 1997 Dec 19;73(3):267-71. doi: 10.1002/(sici)1096-8628(19971219)73:3<267::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9415682

2

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, van Heyningen V. Fantes JA, et al. Am J Hum Genet. 1992 Dec;51(6):1286-94. Am J Hum Genet. 1992. PMID: 1334370 Free PMC article.

3

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V. Crolla JA, et al. Among authors: fantes j. J Med Genet. 1997 Mar;34(3):207-12. doi: 10.1136/jmg.34.3.207. J Med Genet. 1997. PMID: 9132491 Free PMC article.

4

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse.

Kent J, Lee M, Schedl A, Boyle S, Fantes J, Powell M, Rushmere N, Abbott C, van Heyningen V, Bickmore WA. Kent J, et al. Genomics. 1997 Jun 1;42(2):260-7. doi: 10.1006/geno.1997.4706. Genomics. 1997. PMID: 9192846

5

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.

6

Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I.

Evans KL, Fantes J, Simpson C, Arveiler B, Muir W, Fletcher J, van Heyningen V, Steel KP, Brown KA, Brown SD, et al. Evans KL, et al. Hum Mol Genet. 1993 Feb;2(2):115-8. doi: 10.1093/hmg/2.2.115. Hum Mol Genet. 1993. PMID: 8499899

7

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Williamson KA, et al. Among authors: fantes ja. Hum Mol Genet. 2006 May 1;15(9):1413-22. doi: 10.1093/hmg/ddl064. Epub 2006 Mar 16. Hum Mol Genet. 2006. PMID: 16543359

8

Mutations in SOX2 cause anophthalmia.

Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Fantes J, et al. Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612584

9

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.

10

The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis.

Sellar GC, Jordan SA, Bickmore WA, Fantes JA, van Heyningen V, Whitehead AS. Sellar GC, et al. Among authors: fantes ja. Genomics. 1994 Jan 15;19(2):221-7. doi: 10.1006/geno.1994.1051. Genomics. 1994. PMID: 8188252

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