Fitzpatrick DR - Search Results

1

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. Among authors: fitzpatrick dr. 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.

2

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

Brewer CM, Lam WW, Hayward C, Grace E, Maher ER, FitzPatrick DR. Brewer CM, et al. Among authors: fitzpatrick dr. J Med Genet. 1998 Feb;35(2):162-4. doi: 10.1136/jmg.35.2.162. J Med Genet. 1998. PMID: 9507400 Free PMC article.

3

Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: comparison of uptake of testing and characteristics of test applicants.

Holloway SM, Porteous ME, Fitzpatrick DR, Crosbie AE, Cetnarskyj R, Warner J, Barron L. Holloway SM, et al. Among authors: fitzpatrick dr. Genet Couns. 1998;9(2):103-11. Genet Couns. 1998. PMID: 9664206

4

The gene for cherubism maps to chromosome 4p16.3.

Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR. Mangion J, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 1999 Jul;65(1):151-7. doi: 10.1086/302454. Am J Hum Genet. 1999. PMID: 10364527 Free PMC article.

5

A locus for isolated cleft palate, located on human chromosome 2q32.

Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR. Brewer CM, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 1999 Aug;65(2):387-96. doi: 10.1086/302498. Am J Hum Genet. 1999. PMID: 10417281 Free PMC article.

6

Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.

Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. Brewer CM, et al. Among authors: fitzpatrick dr. J Med Genet. 2002 Sep;39(9):e54. doi: 10.1136/jmg.39.9.e54. J Med Genet. 2002. PMID: 12205124 Free PMC article. No abstract available.

7

De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.

Joss S, Howatson A, Trainer A, Whiteford M, FitzPatrick DR. Joss S, et al. Among authors: fitzpatrick dr. Clin Genet. 2003 Mar;63(3):239-40. doi: 10.1034/j.1399-0004.2003.00037.x. Clin Genet. 2003. PMID: 12694239 No abstract available.

8

Chromosome analysis: what and when to request.

Sharkey FH, Maher E, FitzPatrick DR. Sharkey FH, et al. Among authors: fitzpatrick dr. Arch Dis Child. 2005 Dec;90(12):1264-9. doi: 10.1136/adc.2004.068668. Arch Dis Child. 2005. PMID: 16301555 Free PMC article. Review.

9

A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH.

Keng WT, Harewood L, Grace E, Paxton C, Lam WW, Fitzpatrick DR. Keng WT, et al. Among authors: fitzpatrick dr. Am J Med Genet A. 2006 May 15;140(10):1111-3. doi: 10.1002/ajmg.a.31190. Am J Med Genet A. 2006. PMID: 16596668 No abstract available.

10

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. Kalscheuer VM, et al. Hum Genet. 2007 May;121(3-4):501-9. doi: 10.1007/s00439-006-0284-0. Epub 2007 Jan 9. Hum Genet. 2007. PMID: 17211639

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