Gaunt L - Search Results

1

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia.

Li Y, Schwab C, Ryan S, Papaemmanuil E, Robinson HM, Jacobs P, Moorman AV, Dyer S, Borrow J, Griffiths M, Heerema NA, Carroll AJ, Talley P, Bown N, Telford N, Ross FM, Gaunt L, McNally RJQ, Young BD, Sinclair P, Rand V, Teixeira MR, Joseph O, Robinson B, Maddison M, Dastugue N, Vandenberghe P, Stephens PJ, Cheng J, Van Loo P, Stratton MR, Campbell PJ, Harrison CJ. Li Y, et al. Among authors: gaunt l. Nature. 2014 Apr 3;508(7494):98-102. doi: 10.1038/nature13115. Epub 2014 Mar 23. Nature. 2014. PMID: 24670643 Free PMC article.

2

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.

3

The contribution of X-linked coding variation to severe developmental disorders.

Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.

4

A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J. Ramsden S, et al. Among authors: gaunt l. Acta Genet Med Gemellol (Roma). 1996;45(1-2):255-61. doi: 10.1017/s0001566000001410. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872042

5

Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study.

Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical Cytogenetics Group. Swerdlow AJ, et al. Hum Genet. 2008 Mar;123(2):215-24. doi: 10.1007/s00439-008-0465-0. Epub 2008 Jan 15. Hum Genet. 2008. PMID: 18196273

6

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. Among authors: gaunt l. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

7

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.

Banka S, Fitzgibbon GJ, Gaunt L, Rankin WJ, Clayton-Smith J. Banka S, et al. Among authors: gaunt l. Am J Med Genet A. 2011 Jun;155A(6):1453-7. doi: 10.1002/ajmg.a.34034. Epub 2011 May 13. Am J Med Genet A. 2011. PMID: 21574246

8

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Slavotinek A, Gaunt L, Donnai D. Slavotinek A, et al. Among authors: gaunt l. J Med Genet. 1997 Oct;34(10):819-26. doi: 10.1136/jmg.34.10.819. J Med Genet. 1997. PMID: 9350814 Free PMC article. Review.

9

Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain.

Fitzgibbon GJ, Kingston H, Needham M, Gaunt L. Fitzgibbon GJ, et al. Among authors: gaunt l. Dev Med Child Neurol. 2009 Oct;51(10):833-7. doi: 10.1111/j.1469-8749.2008.03173.x. Epub 2008 Dec 5. Dev Med Child Neurol. 2009. PMID: 19183217 Free article.

10

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.

Watson CJ, Gaunt L, Evans G, Patel K, Harris R, Strachan T. Watson CJ, et al. Among authors: gaunt l. Hum Mol Genet. 1993 Jun;2(6):701-4. doi: 10.1093/hmg/2.6.701. Hum Mol Genet. 1993. PMID: 8102569

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