Thompson P - Search Results

1

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC. Sampson JR, et al. Among authors: thompson p. Am J Hum Genet. 1997 Oct;61(4):843-51. doi: 10.1086/514888. Am J Hum Genet. 1997. PMID: 9382094 Free PMC article.

2

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR. Brook-Carter PT, et al. Among authors: thompson p. Nat Genet. 1994 Dec;8(4):328-32. doi: 10.1038/ng1294-328. Nat Genet. 1994. PMID: 7894481

3

NTNG1 mutations are a rare cause of Rett syndrome.

Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ. Archer HL, et al. Am J Med Genet A. 2006 Apr 1;140(7):691-4. doi: 10.1002/ajmg.a.31133. Am J Med Genet A. 2006. PMID: 16502428 Free PMC article.

4

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. Baker E, et al. Among authors: thompson p, thompson e. Am J Med Genet. 2002 Feb 1;107(4):285-93. doi: 10.1002/ajmg.10159. Am J Med Genet. 2002. PMID: 11840484

5

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Upadhyaya M, Majounie E, Thompson P, Han S, Consoli C, Krawczak M, Cordeiro I, Cooper DN. Upadhyaya M, et al. Among authors: thompson p. Hum Genet. 2003 Jan;112(1):12-7. doi: 10.1007/s00439-002-0840-1. Epub 2002 Oct 9. Hum Genet. 2003. PMID: 12483293

6

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder.

Baker KL, Rees MI, Thompson PW, Howell RT, Cole TR, Houghes HE, Upadhyaya M, Ravine D. Baker KL, et al. Among authors: thompson pw. J Med Genet. 2001 Jul;38(7):493-6. doi: 10.1136/jmg.38.7.493. J Med Genet. 2001. PMID: 11476069 Free PMC article. Review. No abstract available.

7

Replication studies in the 16p+ variant.

Thompson PW, Roberts SH, Rees SM. Thompson PW, et al. Hum Genet. 1990 Mar;84(4):371-2. doi: 10.1007/BF00196238. Hum Genet. 1990. PMID: 2307461

8

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Upadhyaya M, Roberts SH, Maynard J, Sorour E, Thompson PW, Vaughan M, Wilkie AO, Hughes HE. Upadhyaya M, et al. Among authors: thompson pw. J Med Genet. 1996 Feb;33(2):148-52. doi: 10.1136/jmg.33.2.148. J Med Genet. 1996. PMID: 8929953 Free PMC article.

9

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT. Archer HL, et al. Among authors: thompson p. Am J Med Genet A. 2005 Jul 1;136(1):38-44. doi: 10.1002/ajmg.a.30774. Am J Med Genet A. 2005. PMID: 15937949 Review.

10

Inheritance of CMT1A duplication from a mosaic father.

Sorour E, Thompson P, MacMillan J, Upadhyaya M. Sorour E, et al. Among authors: thompson p. J Med Genet. 1995 Jun;32(6):483-5. doi: 10.1136/jmg.32.6.483. J Med Genet. 1995. PMID: 7666403 Free PMC article.

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