Garrett C - Search Results

1

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. Turnpenny PD, et al. Among authors: garrett c. Am J Hum Genet. 1999 Jul;65(1):175-82. doi: 10.1086/302464. Am J Hum Genet. 1999. PMID: 10364530 Free PMC article.

2

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Bulman MP, et al. Among authors: garrett c. Nat Genet. 2000 Apr;24(4):438-41. doi: 10.1038/74307. Nat Genet. 2000. PMID: 10742114

3

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS. Sellick GS, et al. Among authors: garrett c. Nat Genet. 2004 Dec;36(12):1301-5. doi: 10.1038/ng1475. Epub 2004 Nov 14. Nat Genet. 2004. PMID: 15543146

4

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.

5

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.

6

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

Terrett JA, Newbury-Ecob R, Smith NM, Li QY, Garrett C, Cox P, Bonnet D, Lyonnet S, Munnich A, Buckler AJ, Brook JD. Terrett JA, et al. Among authors: garrett c. Am J Hum Genet. 1996 Dec;59(6):1337-41. Am J Hum Genet. 1996. PMID: 8940280 Free PMC article.

7

Yunis-Varon syndrome with severe osteodysplasty.

Garrett C, Berry AC, Simpson RH, Hall CM. Garrett C, et al. J Med Genet. 1990 Feb;27(2):114-21. doi: 10.1136/jmg.27.2.114. J Med Genet. 1990. PMID: 2319578 Free PMC article.

8

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.

Hoveyda N, Shield JP, Garrett C, Chong WK, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson MH. Hoveyda N, et al. Among authors: garrett c. J Med Genet. 1999 Sep;36(9):700-4. J Med Genet. 1999. PMID: 10507728 Free PMC article.

9

A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.

Sellick GS, Garrett C, Houlston RS. Sellick GS, et al. Among authors: garrett c. Diabetes. 2003 Oct;52(10):2636-8. doi: 10.2337/diabetes.52.10.2636. Diabetes. 2003. PMID: 14514650

10

Genetic heterogeneity of X-linked mental retardation with fragile X. Association of tight linkage to factor IX and incomplete penetrance in males.

Giannelli F, Morris AH, Garrett C, Daker M, Thurston C, Smith CA. Giannelli F, et al. Among authors: garrett c. Ann Hum Genet. 1987 May;51(2):107-24. doi: 10.1111/j.1469-1809.1987.tb01052.x. Ann Hum Genet. 1987. PMID: 3674751

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