Eng C - Search Results

1

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.

Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A; Developmental Synaptopathies Consortium. Srivastava S, et al. Among authors: eng c. Hum Mol Genet. 2022 Oct 10;31(20):3393-3404. doi: 10.1093/hmg/ddac111. Hum Mol Genet. 2022. PMID: 35594551 Free PMC article. Clinical Trial.

2

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Marsh DJ, et al. Among authors: eng c. Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011

3

Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.

Eng C, Ji H. Eng C, et al. Am J Hum Genet. 1998 May;62(5):1020-2. doi: 10.1086/301847. Am J Hum Genet. 1998. PMID: 9545417 Free PMC article. No abstract available.

4

Germline PTEN mutations in Cowden syndrome-like families.

Marsh DJ, Dahia PL, Caron S, Kum JB, Frayling IM, Tomlinson IP, Hughes KS, Eeles RA, Hodgson SV, Murday VA, Houlston R, Eng C. Marsh DJ, et al. Among authors: eng c. J Med Genet. 1998 Nov;35(11):881-5. doi: 10.1136/jmg.35.11.881. J Med Genet. 1998. PMID: 9832031 Free PMC article.

5

PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies.

Dahia PL, Aguiar RC, Alberta J, Kum JB, Caron S, Sill H, Marsh DJ, Ritz J, Freedman A, Stiles C, Eng C. Dahia PL, et al. Among authors: eng c. Hum Mol Genet. 1999 Feb;8(2):185-93. doi: 10.1093/hmg/8.2.185. Hum Mol Genet. 1999. PMID: 9931326

6

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer.

Agrawal S, Eng C. Agrawal S, et al. Among authors: eng c. Hum Mol Genet. 2006 Mar 1;15(5):777-87. doi: 10.1093/hmg/ddi492. Epub 2006 Jan 25. Hum Mol Genet. 2006. PMID: 16436456

7

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C. Sarquis MS, et al. Among authors: eng c. Am J Hum Genet. 2006 Jul;79(1):23-30. doi: 10.1086/504392. Epub 2006 May 22. Am J Hum Genet. 2006. PMID: 16773562 Free PMC article.

8

Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.

Pezzolesi MG, Li Y, Zhou XP, Pilarski R, Shen L, Eng C. Pezzolesi MG, et al. Among authors: eng c. Am J Hum Genet. 2006 Nov;79(5):923-34. doi: 10.1086/508943. Epub 2006 Sep 29. Am J Hum Genet. 2006. PMID: 17033968 Free PMC article.

9

Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome.

Pezzolesi MG, Zbuk KM, Waite KA, Eng C. Pezzolesi MG, et al. Among authors: eng c. Hum Mol Genet. 2007 May 1;16(9):1058-71. doi: 10.1093/hmg/ddm053. Epub 2007 Mar 6. Hum Mol Genet. 2007. PMID: 17341483

10

Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.

Teresi RE, Zbuk KM, Pezzolesi MG, Waite KA, Eng C. Teresi RE, et al. Among authors: eng c. Am J Hum Genet. 2007 Oct;81(4):756-67. doi: 10.1086/521051. Epub 2007 Aug 15. Am J Hum Genet. 2007. PMID: 17847000 Free PMC article.

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