Trembath RC - 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. Among authors: trembath rc. 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

Albright's hereditary osteodystrophy.

Wilson LC, Trembath RC. Wilson LC, et al. Among authors: trembath rc. J Med Genet. 1994 Oct;31(10):779-84. doi: 10.1136/jmg.31.10.779. J Med Genet. 1994. PMID: 7837255 Free PMC article. Review. No abstract available.

3

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype.

Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC. Bijlsma EK, et al. Among authors: trembath rc. J Med Genet. 1999 Aug;36(8):604-9. J Med Genet. 1999. PMID: 10465110 Free PMC article.

4

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.

Wilson LC, Oude Luttikhuis ME, Baraitser M, Kingston HM, Trembath RC. Wilson LC, et al. Among authors: trembath rc. J Med Genet. 1997 Feb;34(2):133-6. doi: 10.1136/jmg.34.2.133. J Med Genet. 1997. PMID: 9039990 Free PMC article.

5

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Wilson LC, Oude Luttikhuis ME, Clayton PT, Fraser WD, Trembath RC. Wilson LC, et al. Among authors: trembath rc. J Med Genet. 1994 Nov;31(11):835-9. doi: 10.1136/jmg.31.11.835. J Med Genet. 1994. PMID: 7853365 Free PMC article.

6

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: trembath rc. J Med Genet. 2005 Dec;42(12):e70. doi: 10.1136/jmg.2005.033829. J Med Genet. 2005. PMID: 16326827 Free PMC article.

7

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. Among authors: trembath rc. 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.

8

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

Shackleton S, Smallwood DT, Clayton P, Wilson LC, Agarwal AK, Garg A, Trembath RC. Shackleton S, et al. Among authors: trembath rc. J Med Genet. 2005 Jun;42(6):e36. doi: 10.1136/jmg.2004.029751. J Med Genet. 2005. PMID: 15937076 Free PMC article. No abstract available.

9

Activating and inactivating mutations in the human GNAS1 gene.

Aldred MA, Trembath RC. Aldred MA, et al. Among authors: trembath rc. 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.

10

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

Luttikhuis ME, Wilson LC, Leonard JV, Trembath RC. Luttikhuis ME, et al. Among authors: trembath rc. Genomics. 1994 May 15;21(2):455-7. doi: 10.1006/geno.1994.1297. Genomics. 1994. PMID: 8088846 No abstract available.

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