Detalhe da pesquisa
1.
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients.
J Asthma
; 59(1): 23-30, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32962473
2.
Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study.
J Endocrinol Invest
; 44(12): 2635-2643, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33860907
3.
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever.
Reumatismo
; 71(2): 85-87, 2019 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309779
4.
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes.
Int J Immunogenet
; 45(1): 22-25, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29227030
5.
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Clin Genet
; 87(6): 507-16, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345868
6.
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.
Br J Dermatol
; 173(3): 731-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913354
7.
Cortical malformations and COL4A1 mutation: Three new cases.
Eur J Paediatr Neurol
; 23(3): 410-417, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837194
8.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.
Nat Genet
; 23(3): 266-8, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10545939
9.
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
Acta Otorhinolaryngol Ital
; 37(4): 308-311, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28872160
10.
The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.
Cancer Res
; 61(21): 7798-802, 2001 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11691795
11.
Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis.
Cancer Res
; 61(3): 896-9, 2001 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11221877
12.
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.
Oncogene
; 17(2): 157-63, 1998 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-9674699
13.
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study.
J Clin Oncol
; 19(19): 3944-50, 2001 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11579115
14.
Recurrent germline mutation in MSH2 arises frequently de novo.
J Med Genet
; 37(9): 646-52, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10978353
15.
Frequency and type of colorectal tumors in asymptomatic high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
Cancer Epidemiol Biomarkers Prev
; 7(7): 639-41, 1998 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9681535
16.
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: a population-based investigation.
Eur J Cancer
; 32A(11): 1957-62, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8943681
17.
Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer.
Fam Cancer
; 1(2): 93-9, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-14574004
18.
Pathogenesis of colorectal cancer.
Dig Liver Dis
; 32(9): 807-21, 2000 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11215564
19.
Staging and survival of colorectal cancer: are we making progress? The 14-year experience of a Specialized cancer Registry.
Dig Liver Dis
; 32(4): 312-7, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11515629
20.
[Hereditary factors in tumors of the digestive system]. / Fattori ereditari nei tumori dell'apparato digerente.
Ann Ist Super Sanita
; 32(4): 629-42, 1996.
Artigo
em Italiano
| MEDLINE | ID: mdl-9382432