FitzPatrick DR - Search Results

1

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. FitzPatrick DR, et al. Hum Mol Genet. 2003 Oct 1;12(19):2491-501. doi: 10.1093/hmg/ddg248. Epub 2003 Jul 29. Hum Mol Genet. 2003. PMID: 12915443

2

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.

Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J. Male A, et al. Eur J Hum Genet. 2002 Dec;10(12):807-12. doi: 10.1038/sj.ejhg.5200890. Eur J Hum Genet. 2002. PMID: 12461687

3

Transcriptome analysis of human autosomal trisomy.

FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND. FitzPatrick DR, et al. Hum Mol Genet. 2002 Dec 15;11(26):3249-56. doi: 10.1093/hmg/11.26.3249. Hum Mol Genet. 2002. PMID: 12471051

4

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. Among authors: fitzpatrick dr. Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612584

5

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Méhes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N. Hanks S, et al. Nat Genet. 2004 Nov;36(11):1159-61. doi: 10.1038/ng1449. Epub 2004 Oct 10. Nat Genet. 2004. PMID: 15475955 Free article.

6

Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.

FitzPatrick DR. FitzPatrick DR. Trends Genet. 2005 May;21(5):249-53. doi: 10.1016/j.tig.2005.02.012. Trends Genet. 2005. PMID: 15851056 Review.

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: fitzpatrick dr. 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

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S, van Heyningen V. Henderson RA, et al. Among authors: fitzpatrick dr. Eur J Hum Genet. 2007 Aug;15(8):898-901. doi: 10.1038/sj.ejhg.5201826. Epub 2007 Apr 4. Eur J Hum Genet. 2007. PMID: 17406642

9

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. Benko S, et al. Among authors: fitzpatrick dr. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22. Nat Genet. 2009. PMID: 19234473

10

'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. Harewood L, et al. Among authors: fitzpatrick dr. Clin Dysmorphol. 2010 Jan;19(1):5-13. doi: 10.1097/MCD.0b013e328331ddbe. Clin Dysmorphol. 2010. PMID: 19996735

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