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Items: 1 to 20 of 31

1.

'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3).

Harewood L, Keeling JW, Fantes JA, Opitz JM, FitzPatrick DR.

Clin Dysmorphol. 2010 Jan;19(1):5-13. doi: 10.1097/MCD.0b013e328331ddbe.

PMID:
19996735
2.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.

Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.

PMID:
19234473
3.

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.

Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Erratum in: Am J Hum Genet. 2008 Apr;82(4):1019.

4.

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.

Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16. Erratum in: Hum Mol Genet. 2006 Jun 15;15(12):2030.

PMID:
16543359
5.

Identification of SATB2 as the cleft palate gene on 2q32-q33.

FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT.

Hum Mol Genet. 2003 Oct 1;12(19):2491-501. Epub 2003 Jul 29.

PMID:
12915443
6.

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.

Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH.

J Med Genet. 2002 Mar;39(3):170-7.

7.

The evolutionary origin of human subtelomeric homologies--or where the ends begin.

Martin CL, Wong A, Gross A, Chung J, Fantes JA, Ledbetter DH.

Am J Hum Genet. 2002 Apr;70(4):972-84. Epub 2002 Mar 1.

8.

A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder.

Evans KL, Le Hellard S, Morris SW, Lawson D, Whitton C, Semple CA, Fantes JA, Torrance HS, Malloy MP, Maule JC, Humphray SJ, Ross MT, Bentley DR, Muir WJ, Blackwood DH, Porteous DJ.

Genomics. 2001 Feb 1;71(3):315-23.

PMID:
11170748
9.

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH.

J Med Genet. 2001 Jan;38(1):26-34.

10.

Characterization of physical gap sizes at human telomeres.

Lese CM, Fantes JA, Riethman HC, Ledbetter DH.

Genome Res. 1999 Sep;9(9):888-94.

11.

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.

Hum Mol Genet. 1999 Jun;8(6):1025-37.

PMID:
10332034
12.

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

Matsumoto N, Pilz DT, Fantes JA, Kittikamron K, Ledbetter DH.

J Med Genet. 1998 Oct;35(10):829-32.

13.

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.

Am J Med Genet. 1997 Dec 19;73(3):267-71.

PMID:
9415682
14.

Variegated transgene expression in mouse mammary gland is determined by the transgene integration locus.

Dobie KW, Lee M, Fantes JA, Graham E, Clark AJ, Springbett A, Lathe R, McClenaghan M.

Proc Natl Acad Sci U S A. 1996 Jun 25;93(13):6659-64.

15.

Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.

Hayward BE, Fantes JA, Warner JP, Intody S, Leek JP, Markham AF, Bonthron DT.

Mamm Genome. 1996 Jun;7(6):454-8.

PMID:
8662230
16.

Application of automation to the detection of radiation damage using FISH technology.

Fantes JA, Green DK, Hill W, Stark MH, Gordon JM, Piper J.

Int J Radiat Biol. 1995 Sep;68(3):263-76.

PMID:
7561386
17.

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

Fantes JA, Oghene K, Boyle S, Danes S, Fletcher JM, Bruford EA, Williamson K, Seawright A, Schedl A, Hanson I, et al.

Genomics. 1995 Jan 20;25(2):447-61.

PMID:
7789978
18.

Hardware and software requirements for quantitative analysis of comparative genomic hybridization.

du Manoir S, Kallioniemi OP, Lichter P, Piper J, Benedetti PA, Carothers AD, Fantes JA, GarcĂ­a-Sagredo JM, Gerdes T, Giollant M, et al.

Cytometry. 1995 Jan 1;19(1):4-9.

19.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

Prosser J, Condie A, Wright M, Horn JM, Fantes JA, Wyllie AH, Dunlop MG.

Br J Cancer. 1994 Nov;70(5):841-6.

20.

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.

Genomics. 1994 Jan 15;19(2):221-7.

PMID:
8188252

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