X-chromosome inactivation analysis in a female carrier of FOXP3 mutation

Alberto Tommasini, Sérgio Ferrari, Daniele Moratto, +5

Clinical & Experimental Immunology

Effects of maturation on RNA transcription and protein expression of four MRP genes in human placenta and in BeWo cells

Lorella Pascolo, Cristina Fernetti, Doroti Pirulli, +3

Biochemical and Biophysical Research Communications

Human PlacentaDevelopmental BiologyPlacental DevelopmentMedicineGenetics +9

Polymorphisms in the MBL2 promoter correlated with risk of HIV-1 vertical transmission and AIDS progression

Michele Boniotto, Sérgio Crovella, Doroti Pirulli, +7

Genes and Immunity

Aids ProgressionHuman RetrovirusGeneticsPathogenesisImmunology +12

AGXT Gene Mutations and Their Influence on Clinical Heterogeneity of Type 1 Primary Hyperoxaluria

Antonio Amoroso, Doroti Pirulli, Fiorella Florian, +11

Journal of the American Society of Nephrology

GeneticsGenetic EpidemiologyHuman PolymorphismPathologyMolecular Genetics +18

Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

Francesco Paolo Schena, Giuseppina Cerullo, Diletta Domenica Torres, +11

European Journal of Human Genetics

Glomerular DiseaseGlomerulonephritisDisease SusceptibilityInterferon-γ Gene PolymorphismsMedicine +13

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene

Giovanni Masè, S. Ros, A Gemma, +12

Journal of the Neurological Sciences

Six-generation FamilyNeurodegenerative DiseasesAmyotrophic Lateral SclerosisGenetic DisorderGenetics +7

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene

Doroti Pirulli, Daniela Puzzer, Laura Ferri, +6

Human Genetics

Glyoxylate Aminotransferase GeneMendelian DisorderBiochemistryGenetic DisorderMedicine +5

Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.

Doroti Pirulli, Sérgio Crovella, Sheila Ulivi, +18

PubMed

ORIGINAL ARTICLE: <i>MBL2</i> Genetic Screening in Patients with Recurrent Vaginal Infections

Michele Milanese, Ludovica Segat, Francesco De Seta, +4

American Journal of Reproductive Immunology

Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis

Uroš Hladnik, Laura Braida, Michele Boniotto, +4

Clinical and Experimental Medicine

Genetic AnalysisMedicineGeneticsHuman PolymorphismMolecular Biology +5