Patton M - 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: patton m. 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: patton ma. Genet Test. 2000;4(4):365-70. doi: 10.1089/109065700750065108. Genet Test. 2000. PMID: 11216660

3

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

Bell R, Murday VA, Patton MA, Jeffery S. Bell R, et al. Among authors: patton ma. Genet Test. 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. Genet Test. 2001. PMID: 11960581

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. Among authors: patton m. Hum Genet. 1991 Sep;87(5):631. doi: 10.1007/BF00209029. Hum Genet. 1991. PMID: 1680790 No abstract available.

5

Adult polycystic kidney disease in a kindred of West Indian origin exhibits linkage with the 3'HVR probe on chromosome 16.

Jeffery S, Wing AJ, Patton M. Jeffery S, et al. Among authors: patton m. J Med Genet. 1991 May;28(5):334-6. doi: 10.1136/jmg.28.5.334. J Med Genet. 1991. PMID: 1865471 Free PMC article.

6

Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region.

Jeffery S, Saggar-Malik AK, Morgan S, Eastwood JB, Patton M. Jeffery S, et al. Among authors: patton m. Clin Genet. 1995 Jun;47(6):290-4. doi: 10.1111/j.1399-0004.1995.tb03967.x. Clin Genet. 1995. PMID: 7554361

7

A new X-linked mental retardation syndrome.

Homfray T, Holland T, Patton M. Homfray T, et al. Among authors: patton m. Clin Dysmorphol. 1995 Oct;4(4):289-93. doi: 10.1097/00019605-199510000-00003. Clin Dysmorphol. 1995. PMID: 8574418

8

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: patton ma. 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.

9

Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Jamieson CR, et al. Among authors: patton ma. Nat Genet. 1994 Dec;8(4):357-60. doi: 10.1038/ng1294-357. Nat Genet. 1994. PMID: 7894486

10

Congenital nystagmus cosegregating with a balanced 7;15 translocation.

Patton MA, Jeffery S, Lee N, Hogg C. Patton MA, et al. J Med Genet. 1993 Jun;30(6):526-8. doi: 10.1136/jmg.30.6.526. J Med Genet. 1993. PMID: 8326501 Free PMC article.

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