Thornhill A - Search Results

1

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy.

Daniels G, Pettigrew R, Thornhill A, Abbs S, Lashwood A, O'Mahony F, Mathew C, Handyside A, Braude P. Daniels G, et al. Among authors: thornhill a. Mol Hum Reprod. 2001 Oct;7(10):995-1000. doi: 10.1093/molehr/7.10.995. Mol Hum Reprod. 2001. PMID: 11574669

2

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis.

Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH. Thornhill AR, et al. Prenat Diagn. 2001 Jun;21(6):490-7. doi: 10.1002/pd.109. Prenat Diagn. 2001. PMID: 11438956

3

Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.

Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE, Handyside AH, Eady RA, Braude PR, McGrath JA. Thornhill AR, et al. Prenat Diagn. 2000 Dec;20(13):1055-62. doi: 10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-#. Prenat Diagn. 2000. PMID: 11180229

4

ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000).

Geraedts J, Handyside A, Harper J, Liebaers I, Sermon K, Staessen C, Thornhill A, Viville S, Wilton L; European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium Steering Committee. Geraedts J, et al. Among authors: thornhill a. Hum Reprod. 2000 Dec;15(12):2673-83. doi: 10.1093/humrep/15.12.2673. Hum Reprod. 2000. PMID: 11098044

5

Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination.

Thornhill AR, Monk M. Thornhill AR, et al. Mol Hum Reprod. 1996 Apr;2(4):285-9. doi: 10.1093/molehr/2.4.285. Mol Hum Reprod. 1996. PMID: 9238693

6

In vitro fertilization with preimplantation genetic screening.

Handyside AH, Thornhill AR. Handyside AH, et al. N Engl J Med. 2007 Oct 25;357(17):1770; author reply 1770-1. N Engl J Med. 2007. PMID: 17969227 No abstract available.

7

ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee.

Geraedts J, Handyside A, Harper J, Liebaers I, Sermon K, Staessen C, Thornhill A, Vanderfaeillie A, Viville S. Geraedts J, et al. Among authors: thornhill a. Hum Reprod. 1999 Dec;14(12):3138-48. doi: 10.1093/humrep/14.12.3138. Hum Reprod. 1999. PMID: 10601110

8

What next for preimplantation genetic screening?

Harper J, Sermon K, Geraedts J, Vesela K, Harton G, Thornhill A, Pehlivan T, Fiorentino F, SenGupta S, de Die-Smulders C, Magli C, Moutou C, Wilton L. Harper J, et al. Among authors: thornhill a. Hum Reprod. 2008 Mar;23(3):478-80. doi: 10.1093/humrep/dem424. Epub 2008 Jan 17. Hum Reprod. 2008. PMID: 18203706

9

Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes.

Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, Griffin DK. Handyside AH, et al. J Med Genet. 2010 Oct;47(10):651-8. doi: 10.1136/jmg.2009.069971. Epub 2009 Oct 25. J Med Genet. 2010. PMID: 19858130

10

Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders.

Natesan SA, Handyside AH, Thornhill AR, Ottolini CS, Sage K, Summers MC, Konstantinidis M, Wells D, Griffin DK. Natesan SA, et al. Among authors: thornhill ar. Reprod Biomed Online. 2014 Nov;29(5):600-5. doi: 10.1016/j.rbmo.2014.07.007. Epub 2014 Jul 25. Reprod Biomed Online. 2014. PMID: 25154779

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