Bennetts B - Search Results

1

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E. Wilson M, et al. Among authors: bennetts b. Am J Med Genet A. 2008 Jan 15;146A(2):137-48. doi: 10.1002/ajmg.a.32172. Am J Med Genet A. 2008. PMID: 18033734

2

Karyotype, phenotype and parental origin in 19 cases of triploidy.

Daniel A, Wu Z, Bennetts B, Slater H, Osborn R, Jackson J, Pupko V, Nelson J, Watson G, Cooke-Yarborough C, Loo C. Daniel A, et al. Among authors: bennetts b. Prenat Diagn. 2001 Dec;21(12):1034-48. doi: 10.1002/pd.164. Prenat Diagn. 2001. PMID: 11746161

3

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Among authors: bennetts b. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

4

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

Neas K, Bennetts B, Carpenter K, White R, Kirk EP, Wilson M, Kelley R, Baric I, Christodoulou J. Neas K, et al. Among authors: bennetts b. J Inherit Metab Dis. 2005;28(4):525-32. doi: 10.1007/s10545-005-0525-8. J Inherit Metab Dis. 2005. PMID: 15902555

5

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

Adès LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B. Adès LC, et al. Among authors: bennetts b. Am J Med Genet A. 2006 May 15;140(10):1047-58. doi: 10.1002/ajmg.a.31202. Am J Med Genet A. 2006. PMID: 16596670

6

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.

Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M. Mattes J, et al. Among authors: bennetts b. Am J Med Genet A. 2007 Sep 15;143A(18):2165-71. doi: 10.1002/ajmg.a.31896. Am J Med Genet A. 2007. PMID: 17702046

7

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.

Balasubramaniam S, Rudduck C, Bennetts B, Peters G, Wilcken B, Ellaway C. Balasubramaniam S, et al. Among authors: bennetts b. Mol Genet Metab. 2010 Jan;99(1):34-41. doi: 10.1016/j.ymgme.2009.08.007. Mol Genet Metab. 2010. PMID: 19783189

8

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Alodaib A, et al. Among authors: bennetts b. Eur J Hum Genet. 2017 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19. Eur J Hum Genet. 2017. PMID: 27759031 Free PMC article.

9

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: bennetts b. Genet Med. 2020 Oct;22(10):1623-1632. doi: 10.1038/s41436-020-0854-x. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499604 Free PMC article.

10

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

Bartlett E, Archibald AD, Francis D, Ling L, Thomas R, Chandler G, Ward L, O'Farrell G, Pandelache A, Delatycki MB, Bennetts BH, Ho G, Fisk K, Baker EK, Amor DJ, Godler DE. Bartlett E, et al. Among authors: bennetts bh. Am J Med Genet A. 2022 Jan;188(1):304-309. doi: 10.1002/ajmg.a.62500. Epub 2021 Sep 21. Am J Med Genet A. 2022. PMID: 34545686

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