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Maria Addis

Observed names: ADDIS, MARIA, M Addis, M. Addis, Maria Antonietta Addis
OpenAlex ID: A5110129127
A family with segregating triplicated alpha globin loci and beta thalassemia
1983 · R Galanello, R Ruggeri, et al. · Blood · 89
Molecular analysis of beta zero-thalassemia intermedia in Sardinia
1989 · R Galanello, E Dessi, et al. · Blood · 67
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
2008 · Heather J. McCrea, Summer Paradise, et al. · Biochemical and Biophysical Research Communications · 66
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.
1981 · A Cao, M Furbetta, et al. · PubMed · 61
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort
2016 · Marcin Zaniew, Arend Bökenkamp, et al. · Nephrology Dialysis Transplantation · 55
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Thalassaemia types and their incidence in Sardinia.
1978 · A Cao, R Galanello, et al. · Journal of Medical Genetics · 54
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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
2014 · Florian Recker, Marcin Zaniew, et al. · Pediatric Nephrology · 49
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations
2015 · On behalf of the Dent Disease Italian Network, Franca Anglani, et al. · SpringerPlus · 45
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HbH Disease in Sardinia: Molecular, Hematological and Clinical Aspects
2009 · R. Galanello, B. Aru, et al. · Acta Haematologica · 44
OCRLMutation analysis in Italian patients with Lowe syndrome
2004 · Maria Addis, Mario Loi, et al. · Human Mutation · 36
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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome
2006 · Milena Cau, Maria Addis, et al. · Journal of Human Genetics · 33
Triplet-Primed PCR Is More Sensitive than Southern Blotting–Long PCR for the Diagnosis of Myotonic Dystrophy Type1
2012 · Maria Addis, Marianna Serrenti, et al. · Genetic Testing and Molecular Biomarkers · 32
Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations
2009 · Enrica Tosetto, Maria Addis, et al. · Pediatric Nephrology · 31
An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes
2012 · Maria Addis, Cristiana Meloni, et al. · European Journal of Human Genetics · 28
Hemoglobin A2in Iron Deficient 8-Thalassemia Heterozygotes
1981 · Renzo Galanello, Rita Ruggeri, et al. · Hemoglobin · 26
Genetic counseling and genetic heterogeneity in the thalassemias
1985 · E. Paglietti, R. Galanello, et al. · Clinical Genetics · 19
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia
2009 · Milena Cau, Mario Loi, et al. · European Journal of Medical Genetics · 16
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17.
1996 · L Casula, N Archidiacono, et al. · PubMed · 13
Interaction of heterozygous βo‐thalassemia with single functional α‐globin gene
1988 · Renzo Galanello, Elisabetta Paglietti, et al. · American Journal of Hematology · 13
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
2006 · Maria Addis, Cristiana Meloni, et al. · European Journal of Medical Genetics · 12
The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion‐dependent thalassemias
2015 · Milena Cau, Fabrice Danjou, et al. · American Journal of Hematology · 8
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Repeated PCR in CML during IFN‐α therapy
1994 · A. M. Liberati, E. Donti, et al. · European Journal Of Haematology · 8
Pitfalls in genetic counselling for β‐thalassemia: an individual with 4 different thalassemia mutations
1988 · R. Galanello, M. E. Paglietti, et al. · Clinical Genetics · 8
Pigmentary Mosaicism, Subcortical Band Heterotopia, and Brain Cystic Lesions
2009 · Martino Ruggieri, Mario Roggini, et al. · Pediatric Neurology · 7
First trimester diagnosis of β‐thalassaemia in a twin pregnancy
1986 · Giovanni Monni, Cristina Rosatelli, et al. · Prenatal Diagnosis · 7
Works count: 47
Citation count: 862
H-index: 16
I10-index: 20
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