A family with segregating triplicated alpha globin loci and beta thalassemia

R Galanello, R Ruggeri, E Paglietti, +3

Blood

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

Heather J. McCrea, Summer Paradise, Livia Tomasini, +4

Biochemical and Biophysical Research Communications

Ash-rhogap DomainsPatient MutationsSignal TransductionSignaling PathwayReceptor Tyrosine Kinase +6

Molecular analysis of beta zero-thalassemia intermedia in Sardinia

R. Galanello, E Dessi, MA Melis, +6

Blood

Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.

Antonio Cao, M. Furbetta, R. Galanello, +9

PubMed

Thalassaemia types and their incidence in Sardinia.

Antonio Cao, R. Galanello, M. Furbetta, +7

Journal of Medical Genetics

Thalassaemia SyndromesPediatric HematologyCaucasian Population TodayGeneticsInherited Metabolic Disease +10

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Florian Recker, Marcin Zaniew, Detlef Böckenhauer, +21

Pediatric Nephrology

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathology +7

HbH Disease in Sardinia: Molecular, Hematological and Clinical Aspects

R. Galanello, B. Aru, C. Dessì, +10

Acta Haematologica

Long-term renal outcome in children with <i>OCRL</i> mutations: retrospective analysis of a large international cohort

Marcin Zaniew, Arend Bökenkamp, Marcin Kołbuc, +39

Nephrology Dialysis Transplantation

OCRLMutation analysis in Italian patients with Lowe syndrome

Maria Addis, Mario Loi, Carmen Lepiani, +2

Human Mutation

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Enrica Tosetto, Maria Addis, Gianluca Caridi, +12

Pediatric Nephrology

Oral CavityGeneticsPathogenesisPathologyLocus Heterogeneity +5