Taylor R - Search Results

1

Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.

Crosby A, Jeffery S, Homfray T, Taylor R, Patton M. Crosby A, et al. Among authors: taylor r. Genet Test. 1999;3(3):305-7. doi: 10.1089/109065799316644. Genet Test. 1999. PMID: 10495932

2

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

Afzal AR, Florêncio RN, Taylor R, Patton MA, Saggar-Malik A, Jeffery S. Afzal AR, et al. Among authors: taylor r. Genet Test. 2000;4(4):365-70. doi: 10.1089/109065700750065108. Genet Test. 2000. PMID: 11216660

3

Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

Sharland M, Taylor R, Patton MA, Jeffery S. Sharland M, et al. Among authors: taylor r. J Med Genet. 1992 Mar;29(3):188-90. doi: 10.1136/jmg.29.3.188. J Med Genet. 1992. PMID: 1348095 Free PMC article.

4

An unusual variant detected using a beta-globin probe for an individual with sickle cell trait.

Taylor R, Patton M, Jeffery S. Taylor R, et al. Hum Genet. 1991 Sep;87(5):631. doi: 10.1007/BF00209029. Hum Genet. 1991. PMID: 1680790 No abstract available.

5

Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

Afzal AR, Hand M, Ternes-Pereira E, Saggar-Malik A, Taylor R, Jeffery S. Afzal AR, et al. Among authors: taylor r. Hum Genet. 1999 Dec;105(6):648-53. doi: 10.1007/s004399900177. Hum Genet. 1999. PMID: 10647901

6

Huntington's disease: a molecular genetic and CT comparison.

Sharma P, Savy L, Britton J, Taylor R, Howick A, Patton M. Sharma P, et al. Among authors: taylor r. J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):206-8. doi: 10.1136/jnnp.60.2.206. J Neurol Neurosurg Psychiatry. 1996. PMID: 8708657 Free PMC article.

7

Keeling PJ, Jeffery S, Caforio AL, Taylor R, Bottazzo GF, Davies MJ, McKenna WJ. Keeling PJ, et al. Among authors: taylor r. Br Heart J. 1992 Dec;68(6):554-9. doi: 10.1136/hrt.68.12.554. Br Heart J. 1992. PMID: 1334684 Free PMC article.

8

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Gordon K, et al. Among authors: taylor r. Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 23074044 Review.

9

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Prattichizzo C, et al. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. Hum Mutat. 2008. PMID: 18546297

10

Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female.

Pereira ET, de Almeida JC, Gunha AC, Patton M, Taylor R, Jeffery S. Pereira ET, et al. Among authors: taylor r. J Med Genet. 1991 Sep;28(9):591-5. doi: 10.1136/jmg.28.9.591. J Med Genet. 1991. PMID: 1956056 Free PMC article.

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