Law C - Search Results

1

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: law c. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.

2

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S. Kalidas K, et al. Among authors: law c. J Hum Genet. 2005;50(1):21-25. doi: 10.1007/s10038-004-0212-x. Epub 2004 Dec 10. J Hum Genet. 2005. PMID: 15690106

3

Delineation of two distinct 6p deletion syndromes.

Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J. Davies AF, et al. Among authors: law c. Hum Genet. 1999 Jan;104(1):64-72. doi: 10.1007/s004390050911. Hum Genet. 1999. PMID: 10071194

4

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB. Koolen DA, et al. Eur J Hum Genet. 2005 Sep;13(9):1019-24. doi: 10.1038/sj.ejhg.5201456. Eur J Hum Genet. 2005. PMID: 15986041

5

Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs.

Parkin B, Law C. Parkin B, et al. Among authors: law c. Am J Med Genet. 2001 Nov 22;104(2):131-4. doi: 10.1002/ajmg.1590. Am J Med Genet. 2001. PMID: 11746043

6

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Law CJ, Fisher AM, Temple IK. Law CJ, et al. J Med Genet. 1998 Aug;35(8):685-9. doi: 10.1136/jmg.35.8.685. J Med Genet. 1998. PMID: 9719381 Free PMC article. Review.

7

Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.

Law C, Bunyan D, Castle B, Day L, Simpson I, Westwood G, Keeton B. Law C, et al. J Med Genet. 2006 Dec;43(12):908-16. doi: 10.1136/jmg.2006.042176. Epub 2006 Aug 2. J Med Genet. 2006. PMID: 16885183 Free PMC article.

8

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

Tysoe C, Law CJ, Caswell R, Clayton P, Ellard S. Tysoe C, et al. Among authors: law cj. Prenat Diagn. 2008 May;28(5):384-8. doi: 10.1002/pd.1980. Prenat Diagn. 2008. PMID: 18395876

9

Three-dimensional spatial distribution of lumbar paraspinal intramuscular fat revealed by spatial parametric mapping.

Weber KA 2nd, Wesselink EO, Gutierrez J, Law CSW, Mackey S, Ratliff J, Hu S, Chaudhari AS, Pool-Goudzwaard A, Coppieters MW, Elliott JM, Hancock M, De Leener B. Weber KA 2nd, et al. Among authors: law csw. Eur Spine J. 2024 Nov 18. doi: 10.1007/s00586-024-08559-1. Online ahead of print. Eur Spine J. 2024. PMID: 39556147

10

Preferential occurrence of fast radio bursts in massive star-forming galaxies.

Sharma K, Ravi V, Connor L, Law C, Ocker SK, Sherman M, Kosogorov N, Faber J, Hallinan G, Harnach C, Hellbourg G, Hobbs R, Hodge D, Hodges M, Lamb J, Rasmussen P, Somalwar J, Weinreb S, Woody D, Leja J, Anand S, Das KK, Qin YJ, Rose S, Dong DZ, Miller J, Yao Y. Sharma K, et al. Among authors: law c. Nature. 2024 Nov;635(8037):61-66. doi: 10.1038/s41586-024-08074-9. Epub 2024 Nov 6. Nature. 2024. PMID: 39506155

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