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Items: 1 to 20 of 46

1.

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C.

JAMA. 2005 Nov 16;294(19):2465-73.

PMID:
16287957
2.

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, Maas N, Vermeulen S, Menten B, Speleman F, De Moor B, Van Hummelen P, Marynen P, Fryns JP, Devriendt K.

J Histochem Cytochem. 2005 Mar;53(3):413-22.

PMID:
15750031
3.

Mutations in ZASP define a novel form of muscular dystrophy in humans.

Selcen D, Engel AG.

Ann Neurol. 2005 Feb;57(2):269-76.

PMID:
15668942
4.

Pathological situations characterized by altered actin isoform expression.

Chaponnier C, Gabbiani G.

J Pathol. 2004 Nov;204(4):386-95. Review.

PMID:
15495226
5.

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.

Dehainault C, Laugé A, Caux-Moncoutier V, Pagès-Berhouet S, Doz F, Desjardins L, Couturier J, Gauthier-Villars M, Stoppa-Lyonnet D, Houdayer C.

Nucleic Acids Res. 2004 Oct 11;32(18):e139.

6.

BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling.

He XC, Zhang J, Tong WG, Tawfik O, Ross J, Scoville DH, Tian Q, Zeng X, He X, Wiedemann LM, Mishina Y, Li L.

Nat Genet. 2004 Oct;36(10):1117-21. Epub 2004 Sep 19.

PMID:
15378062
7.

Genetic conditions associated with intestinal juvenile polyps.

Merg A, Howe JR.

Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):44-55. Review.

PMID:
15264272
8.

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT.

J Med Genet. 2004 Jul;41(7):484-91.

10.
11.

Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family.

Braghetta P, Ferrari A, De Gemmis P, Zanetti M, Volpin D, Bonaldo P, Bressan GM.

Matrix Biol. 2004 Jan;22(7):549-56.

PMID:
14996434
12.

PTEN mutations are common in sporadic microsatellite stable colorectal cancer.

Nassif NT, Lobo GP, Wu X, Henderson CJ, Morrison CD, Eng C, Jalaludin B, Segelov E.

Oncogene. 2004 Jan 15;23(2):617-28.

PMID:
14724591
13.

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A.

J Biol Chem. 2004 Feb 20;279(8):6746-52. Epub 2003 Dec 3.

14.

Gastrointestinal polyposis syndromes.

Bronner MP.

Am J Med Genet A. 2003 Nov 1;122A(4):335-41. Review.

PMID:
14518072
15.

JUVENILE POLYPOSIS COLI.

MCCOLL I, BUSXEY HJ, VEALE AM, MORSON BC.

Proc R Soc Med. 1964 Oct;57:896-7. No abstract available.

PMID:
14214792
16.

PTEN: one gene, many syndromes.

Eng C.

Hum Mutat. 2003 Sep;22(3):183-98. Review.

PMID:
12938083
17.

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C.

Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 3.

18.

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation.

Reifenberger J, Rauch L, Beckmann MW, Megahed M, Ruzicka T, Reifenberger G.

Br J Dermatol. 2003 May;148(5):1040-6.

PMID:
12786840
19.
20.

BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels.

Waite KA, Eng C.

Hum Mol Genet. 2003 Mar 15;12(6):679-84.

PMID:
12620973

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