Hastings R - Search Results

1

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S. Weedon MN, et al. Among authors: hastings r. Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820100 Free PMC article.

2

A case of probable Bohring-Opitz syndrome with medulloblastoma.

Hastings RWT, Newbury-Ecob R, Lunt PW. Hastings RWT, et al. Clin Dysmorphol. 2010 Oct;19(4):202-205. doi: 10.1097/MCD.0b013e32833e07de. Clin Dysmorphol. 2010. PMID: 20717007 No abstract available.

3

Dysmorphology of Barth syndrome.

Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. Hastings R, et al. Clin Dysmorphol. 2009 Oct;18(4):185-7. doi: 10.1097/MCD.0b013e32832a9e62. Clin Dysmorphol. 2009. PMID: 19648820

4

Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?

Ferguson JS, Gunatheesan S, Brice G, Hastings R, Newbury-Ecob R, Mortimer PS, Mansour S. Ferguson JS, et al. Among authors: hastings r. Am J Med Genet A. 2011 Nov;155A(11):2762-5. doi: 10.1002/ajmg.a.34188. Epub 2011 Sep 22. Am J Med Genet A. 2011. PMID: 21954173

5

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R. Hastings R, et al. Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368916 Free PMC article. Review.

6

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.

Hastings R, Newbury-Ecob R, Ng A, Taylor R. Hastings R, et al. Genes Chromosomes Cancer. 2010 Oct;49(10):967-8. doi: 10.1002/gcc.20800. Genes Chromosomes Cancer. 2010. PMID: 20607846 No abstract available.

7

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.

Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P. Steward CG, et al. Among authors: hastings r. Prenat Diagn. 2010 Oct;30(10):970-6. doi: 10.1002/pd.2599. Prenat Diagn. 2010. PMID: 20812380 Free PMC article.

8

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. Hoischen A, et al. Among authors: hastings r. Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868. Nat Genet. 2011. PMID: 21706002

9

Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?

Hastings R, Harding D, Donaldson A, Liebling R, Hayes A, Kraus A, Joss S, Narayanaswamy S, Turnpenny P, Smithson S. Hastings R, et al. Am J Med Genet A. 2009 Dec;149A(12):2838-42. doi: 10.1002/ajmg.a.33124. Am J Med Genet A. 2009. PMID: 19938090

10

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R. Thomas NS, et al. Among authors: hastings r. Am J Med Genet A. 2009 Jul;149A(7):1407-14. doi: 10.1002/ajmg.a.32914. Am J Med Genet A. 2009. PMID: 19533800

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