Eng C - Search Results

1

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.

Uljarević M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY; Developmental Synaptopathies Consortium. Uljarević M, et al. Among authors: eng c. Am J Med Genet A. 2021 Nov;185(11):3401-3410. doi: 10.1002/ajmg.a.62458. Epub 2021 Aug 23. Am J Med Genet A. 2021. PMID: 34423884 Free PMC article.

2

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.

3

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C. Zori RT, et al. Among authors: eng c. Am J Med Genet. 1998 Dec 4;80(4):399-402. Am J Med Genet. 1998. PMID: 9856571

4

Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopade OI. Fackenthal JD, et al. Among authors: eng c. J Med Genet. 2001 Mar;38(3):159-64. doi: 10.1136/jmg.38.3.159. J Med Genet. 2001. PMID: 11238682 Free PMC article.

5

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

Reardon W, Zhou XP, Eng C. Reardon W, et al. Among authors: eng c. J Med Genet. 2001 Dec;38(12):820-3. doi: 10.1136/jmg.38.12.820. J Med Genet. 2001. PMID: 11748304 Free PMC article.

6

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.

Pilarski R, Eng C. Pilarski R, et al. Among authors: eng c. J Med Genet. 2004 May;41(5):323-6. doi: 10.1136/jmg.2004.018036. J Med Genet. 2004. PMID: 15121767 Free PMC article. Review. No abstract available.

7

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Butler MG, et al. Among authors: eng c. J Med Genet. 2005 Apr;42(4):318-21. doi: 10.1136/jmg.2004.024646. J Med Genet. 2005. PMID: 15805158 Free PMC article.

8

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.

Tekin M, Hişmi BO, Fitoz S, Yalçinkaya F, Ekim M, Kansu A, Ertem M, Deda G, Tutar E, Arsan S, Zhou XP, Pilarski R, Eng C, Akar N. Tekin M, et al. Among authors: eng c. Am J Med Genet A. 2006 Jul 1;140(13):1472-5. doi: 10.1002/ajmg.a.31273. Am J Med Genet A. 2006. PMID: 16752378 No abstract available.

9

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.

10

A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: potential molecular pathogenic mechanisms.

Pinzone JJ, Eng C, Paik J, Brindle KA, Ringel MD, Katz JD. Pinzone JJ, et al. Among authors: eng c. Am J Med Genet A. 2007 Jul 1;143A(13):1522-7. doi: 10.1002/ajmg.a.31786. Am J Med Genet A. 2007. PMID: 17568419 No abstract available.

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