Aldred MA - Search Results

1

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.

Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC. Aldred MA, et al. J Med Genet. 2004 Jun;41(6):433-9. doi: 10.1136/jmg.2003.017202. J Med Genet. 2004. PMID: 15173228 Free PMC article. No abstract available.

2

Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.

Wright AF, Bhattacharya SS, Aldred MA, Jay M, Carothers AD, Thomas NS, Bird AC, Jay B, Evans HJ. Wright AF, et al. Among authors: aldred ma. J Med Genet. 1991 Jul;28(7):453-7. doi: 10.1136/jmg.28.7.453. J Med Genet. 1991. PMID: 1895315 Free PMC article.

3

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.

Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC. Machado RD, et al. Genomics. 2000 Sep 1;68(2):220-8. doi: 10.1006/geno.2000.6291. Genomics. 2000. PMID: 10964520

4

Activating and inactivating mutations in the human GNAS1 gene.

Aldred MA, Trembath RC. Aldred MA, et al. Hum Mutat. 2000 Sep;16(3):183-9. doi: 10.1002/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10980525 Review.

5

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy.

Aldred MA, Bagshaw RJ, Macdermot K, Casson D, Murch SH, Walker-Smith JA, Trembath RC. Aldred MA, et al. J Med Genet. 2000 Nov;37(11):E35. doi: 10.1136/jmg.37.11.e35. J Med Genet. 2000. PMID: 11073544 Free PMC article. No abstract available.

6

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Aldred MA, et al. Am J Med Genet. 2002 Nov 22;113(2):167-72. doi: 10.1002/ajmg.10751. Am J Med Genet. 2002. PMID: 12407707

7

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.

Aldred MA, Baumber L, Hill A, Schwalbe EC, Goh K, Karwatowski W, Trembath RC. Aldred MA, et al. Hum Genet. 2004 Oct;115(5):428-31. doi: 10.1007/s00439-004-1171-1. Epub 2004 Aug 25. Hum Genet. 2004. PMID: 15338275

8

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.

Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC. Kinning E, et al. Among authors: aldred ma. J Med Genet. 2005 Dec;42(12):e70. doi: 10.1136/jmg.2005.033829. J Med Genet. 2005. PMID: 16326827 Free PMC article.

9

SNP'ing at nasopharyngeal cancer susceptibility: for whom the bell TOLLs.

Aldred MA, Eng C. Aldred MA, et al. Cancer Biol Ther. 2006 Oct;5(10):1292-3. doi: 10.4161/cbt.5.10.3487. Epub 2006 Oct 24. Cancer Biol Ther. 2006. PMID: 17172806 Free article. No abstract available.

10

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia.

Rigelsky CM, Jennings C, Lehtonen R, Minai OA, Eng C, Aldred MA. Rigelsky CM, et al. Among authors: aldred ma. Am J Med Genet A. 2008 Oct 1;146A(19):2551-6. doi: 10.1002/ajmg.a.32468. Am J Med Genet A. 2008. PMID: 18792970

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