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COL7A1 MUTATIONS IN CHILEAN PATIENTS WITH DYSTROPHIC EPIDERMOLYSIS BULLOSA:CHARACTERIZATION OF RECURRENT MUTATIONS AND DEVELOPMENT OF RAPID SCREENING TEST.

Unknown author (2008)

Mutational screening of the apc gene in chilean families with familial adenomatous polyposis: nine novel truncating mutations

Unknown author (SPRINGER VERLAG, 2007)

Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: Nine novel truncating mutations

De La Fuente, Marjorie.; Carvallo de Saint Quentin, Pilar; Lopez Kostner, Luis Francisco. (2007)

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

de Rocco, Daniela; Zieger, Barbara; Platokouki, Helen; Heller, Paula Graciela; Pastore, Annalisa; Bottega, Roberta; Noris, Patrizia; Barozzi, Serena; Glembotsky, Ana Claudia; Pergantou, Helen; Balduini, Carlo L.; Savoia, Anna; Pecci, Alessandro (Elsevier Masson, 2013-01)

MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital ...

Screening For Mutations In Human Alpha-globin Genes By Nonradioactive Single-strand Conformation Polymorphism.

Jorge, S B; Melo, M B; Costa, F F; Sonati, M F (2003)

Prothrombin C20209T mutation in deep vein thrombosis: A case report

Muñoz M.; Vilos C.; Cantín M. (E-Century Publishing Corporation, 2015)

Screening and characterization of mutations in isoniazid-resistant Mycobacterium tuberculosis isolates obtained in Brazil

Ctr Dis Control & Prevent; Universidade Estadual de Maringá (UEM); Universidade Estadual Paulista (Unesp); Instituto Adolfo Lutz (IAL); Universidade de São Paulo (USP) (Amer Soc Microbiology, 2004-09-01)

We investigated mutations in the genes katG, inhA (regulatory and structural regions), and kasA and the oxyR-ahpC intergenic region of 97 isoniazid (INH)-resistant and 60 INH-susceptible Mycobacterium tuberculosis isolates ...

Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients

Unknown author (Scientific Reports, 2017-07-05)

Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively ...

Newborn hearing screening and genetic testing in 8974 Brazilian neonates

Nivoloni, KDB; da Silva-Costa, SM; Pomilio, MCA; Pereira, T; Lopes, KD; de Moraes, VCS; Alexandrino, F; de Oliveira, CA; Sartorato, EL (Elsevier Ireland LtdClareIrlanda, 2010)

New mutations detected by denaturing high performance liquid chromatography during screening of exon 6 bcr-abl mutations in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors

Mascarenhas, CC; Cunha, AF; Miranda, EC; Zulli, R; Silveira, RA; Costa, FF; Pagnano, KBB; De Souza, CA (Taylor & Francis LtdAbingdonInglaterra, 2009)

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