Patton MA - Search Results

1

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

2

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. Clin Genet. 1995 Jun;47(6):290-4. doi: 10.1111/j.1399-0004.1995.tb03967.x. Clin Genet. 1995. PMID: 7554361

3

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. Genet Test. 1999;3(3):305-7. doi: 10.1089/109065799316644. Genet Test. 1999. PMID: 10495932

4

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

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. 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

Autosomal dominant polycystic kidney disease.

Saggar-Malik AK, Jeffery S, Patton MA. Saggar-Malik AK, et al. Among authors: patton ma. BMJ. 1994 May 7;308(6938):1183-4. doi: 10.1136/bmj.308.6938.1183. BMJ. 1994. PMID: 8180531 Free PMC article. No abstract available.

7

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Murray A, Donger C, Fenske C, Spillman I, Richard P, Dong YB, Neyroud N, Chevalier P, Denjoy I, Carter N, Syrris P, Afzal AR, Patton MA, Guicheney P, Jeffery S. Murray A, et al. Among authors: patton ma. Circulation. 1999 Sep 7;100(10):1077-84. doi: 10.1161/01.cir.100.10.1077. Circulation. 1999. PMID: 10477533

8

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Afzal AR, et al. Among authors: patton ma. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. Nat Genet. 2000. PMID: 10932186

9

Robinow syndrome.

Patton MA, Afzal AR. Patton MA, et al. J Med Genet. 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. J Med Genet. 2002. PMID: 12011143 Free PMC article. Review.

10

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.

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