Albuquerque C - Search Results

1

APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case.

Filipe B, Albuquerque C, Bik E, Lage P, Rodrigues P, Vossen R, Tops C, Nobre Leitão C. Filipe B, et al. Among authors: albuquerque c. Dis Colon Rectum. 2009 Aug;52(8):1516-20; discussion 1520-1. doi: 10.1007/DCR.0b013e3181ab810f. Dis Colon Rectum. 2009. PMID: 19617769

2

[Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein].

Albuquerque C, Fidalgo P, Chagas C, Suspiro A, Cravo M, Ramalho E, Leitão CN, Mira FC. Albuquerque C, et al. Acta Med Port. 1998 Jan;11(1):25-32. Acta Med Port. 1998. PMID: 9580364 Free article. Portuguese.

3

Colonic cancer in a 34-yr-old woman: should it prompt microsatellite instability studies and mismatch repair gene testing?

Claro I, Cravo M, Glória L, Gaspar C, Albuquerque C, Lage P, Fidalgo P, Ramalho E, Chaves P, Cardoso P, Nobre Leitão C. Claro I, et al. Among authors: albuquerque c. Am J Gastroenterol. 1998 Oct;93(10):1991-2. doi: 10.1111/j.1572-0241.1998.00565.x. Am J Gastroenterol. 1998. PMID: 9772075

4

Microsatellite instability in non-neoplastic mucosa of patients with ulcerative colitis: effect of folate supplementation.

Cravo ML, Albuquerque CM, Salazar de Sousa L, Glória LM, Chaves P, Dias Pereira A, Nobre Leitão C, Quina MG, Costa Mira F. Cravo ML, et al. Among authors: albuquerque cm. Am J Gastroenterol. 1998 Nov;93(11):2060-4. doi: 10.1111/j.1572-0241.1998.00592.x. Am J Gastroenterol. 1998. PMID: 9820373

5

Validation and simplification of Bethesda guidelines for identifying apparently sporadic forms of colorectal carcinoma with microsatellite instability.

Cravo ML, Fidalgo PO, Lage PA, Albuquerque CM, Chaves PP, Claro I, Gomes T, Gaspar C, Soares JO, Nobre-Leitão C. Cravo ML, et al. Among authors: albuquerque cm. Cancer. 1999 Feb 15;85(4):779-85. Cancer. 1999. PMID: 10091754

6

Seven novel mutations in the APC gene of Portuguese families with familial adenomatous polyposis: correlation with phenotype.

Fidalgo PO, Maia LC, Cravo ML, Albuquerque CM, Suspiro A, Ramalho E, Nobre-Leitão C. Fidalgo PO, et al. Among authors: albuquerque cm. Cancer Genet Cytogenet. 1999 Jun;111(2):152-6. doi: 10.1016/s0165-4608(98)00238-6. Cancer Genet Cytogenet. 1999. PMID: 10347554

7

BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes.

Cravo M, Lage P, Albuquerque C, Chaves P, Claro I, Gomes T, Gaspar C, Fidalgo P, Soares J, Nobre-Leitão C. Cravo M, et al. Among authors: albuquerque c. J Pathol. 1999 Jul;188(3):252-7. doi: 10.1002/(SICI)1096-9896(199907)188:3<252::AID-PATH354>3.0.CO;2-3. J Pathol. 1999. PMID: 10419591

8

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

Cravo M, Afonso AJ, Lage P, Albuquerque C, Maia L, Lacerda C, Fidalgo P, Chaves P, Cruz C, Nobre-Leitão C. Cravo M, et al. Among authors: albuquerque c. Gut. 2002 Mar;50(3):405-12. doi: 10.1136/gut.50.3.405. Gut. 2002. PMID: 11839723 Free PMC article.

9

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.

Albuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ, Leitão CN, Fodde R, Smits R. Albuquerque C, et al. Hum Mol Genet. 2002 Jun 15;11(13):1549-60. doi: 10.1093/hmg/11.13.1549. Hum Mol Genet. 2002. PMID: 12045208

10

Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

Lage PA, Albuquerque C, Sousa RG, Cravo ML, Salazar M, Francisco I, Maia L, Claro I, Suspiro A, Rodrigues P, Raposo H, Fidalgo PA, Nobre-Leitão C. Lage PA, et al. Among authors: albuquerque c. Cancer. 2004 Jul 1;101(1):172-7. doi: 10.1002/cncr.20320. Cancer. 2004. PMID: 15222003 Free article.

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