Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the <i>MYH</i> gene in Italian patients with adenomatous polyposis coli and colorectal adenomas

Viviana Gismondi, Maurizio Meta, L Bonelli, +12

International Journal of Cancer

Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.

G. Shashidhar Pai, Joyce A. Sprenkle, T T, +2

Proceedings of the National Academy of Sciences

CytogeneticsGeneticsMolecular BiologyMolecular GeneticsReproductive Biology +17

STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

Nicoletta Resta, Cristiano Simone, Cristina Mareni, +12

PubMed

Genetic DisorderMedicineGeneticsStk11 GeneStk11 Gene Mutations +8

Mutation Analysis of <i>CCM1, CCM2</i> and <i>CCM3</i> Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation

Rosalia D’Angelo, Valéria Marini, Carmela Rinaldi, +13

Brain Pathology

Ccm PatientsMendelian DisorderGenetic DisorderGeneticsUnrelated Ccm Patients +11

Red cell NADP+ and NADPH in glucose-6-phosphate dehydrogenase deficiency.

Henry N. Kirkman, Gianfranco Gaetani, Evelyn H. Clemons, +1

Journal of Clinical Investigation

Reductive StressRedox SignalingAldo-keto ReductaseBiochemistryNatural Sciences +12

Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells

Barbara R. Migeon, Stanley F. Wolf, Cristina Mareni, +1

Cell

ChromatinCytogeneticsGeneticsInactive X ChromosomeChromosome Biology +5

Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome

Stanley F. Wolf, Cristina Mareni, Barbara R. Migeon

Cell

HybridisationHybridizationGeneticsMolecular BiologyCloned Dna Sequences +7

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome

Sara Gargiulo, Margherita Torrini, Saara Ollila, +14

Familial Cancer

Msh2 MutationsPancreatic CancerSomatic VariantMedicineSuspected Lynch Syndrome +7

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24<i>MLH1</i>and<i>MSH2</i>Gene Variants

Rossella Tricarico, Mariann Kasela, Cristina Mareni, +17

Human Mutation

Insight Interpretation CriteriaGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +18

Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

Alessandro Stella, Nicoletta Resta, Mattia Gentile, +4

PubMed