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Maddalena Martella

Observed names: M Martella, M. Martella, MADDALENA MARTELLA, MARTELLA M., Martella, M, Martella, M.
OpenAlex ID: A5062283112
Cx26 deafness: mutation analysis and clinical variability
1999 · A Murgia, E Orzan, et al. · Journal of Medical Genetics · 144
Somatic mosaicism in von Hippel-Lindau disease
2000 · Alessandra Murgia, Maddalena Martella, et al. · Human Mutation · 73
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Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome.
2008 · G Pavesi, A Feletti, et al. · PubMed · 41
Molecular Genetics Applied to Clinical Practice: The Cx26 Hearing Impairment
1999 · E. Orzan, R. Polli, et al. · British Journal of Audiology · 41
Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action
2019 · Raffaella Colombatti, Maddalena Martella, et al. · Pediatric Blood & Cancer · 28
Molecular Characterization of Large Deletions in the von Hippel-Lindau (VHL) Gene by Quantitative Real-Time PCR
2006 · Alberto Casarin, Maddalena Martella, et al. · Molecular Diagnosis & Therapy · 25
Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
2011 · Emanuela Leonardi, Maddalena Martella, et al. · Annals of Human Genetics · 23
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
2021 · Antonio Marzollo, Francesca Conti, et al. · Journal of Clinical Immunology · 22
Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma
2003 · G. Opocher, F. Schiavi, et al. · Clinical Endocrinology · 22
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.
2005 · Maria Luigia Randi, Alessandra Murgia, et al. · PubMed · 20
Molecular analysis of two uncharacterized sequence variants of the VHL gene
2006 · Maddalena Martella, Leonardo Salviati, et al. · Journal of Human Genetics · 17
Familial Nonsyndromic Pheochromocytoma
2006 · GIUSEPPE OPOCHER, FRANCESCA SCHIAVI, et al. · Annals of the New York Academy of Sciences · 16
Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening
2022 · Maddalena Martella, Mimma Campeggio, et al. · Frontiers in Pediatrics · 9
Association between a combination of single nucleotide polymorphisms and large vessel cerebral vasculopathy in African children with sickle cell disease
2016 · Maddalena Martella, Nadia Quaglia, et al. · Blood Cells Molecules and Diseases · 6
Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population: Problemas auditivos preverbales por Conexina 26: Prevalencia de mutacion y heterocigosidad en una población seleccionada
2002 · Eva Orzan, Alessandra Murgia, et al. · International Journal of Audiology · 6
Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection
2021 · Alexandre Michev, Alessandro Borghesi, et al. · Neonatology · 5
Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
2018 · Maddalena Martella, Giampietro Viola, et al. · International Journal of Neonatal Screening · 5
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CK2β Regulates Hematopoietic Stem Cell Biology and Erythropoiesis
2023 · Laura Quotti Tubi, Sara Canovas Nunes, et al. · HemaSphere · 4
Point‐of‐care testing allows successful simultaneous screening of sickle cell disease, HIV, and tuberculosis for households in rural Guinea‐Bissau, West Africa
2022 · Federica Menzato, Luca Bosa, et al. · Pediatric Blood & Cancer · 4
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Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks
2023 · Maria Paola Boaro, Giulia Reggiani, et al. · Frontiers in Pediatrics · 3
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Successful Simultaneous Screening of Sickle Cell Disease, HIV and Tuberculosis in Rural Guinea Bissau, West Africa through Rapid Tests and a Standardized Clinical Questionnaire: An Outreach Program Due to a Public-Private Partnership
2018 · Federica Menzato, Luca Bosa, et al. · Blood · 3
P1500: 2,3-diphosphoglycerate Detection Via Direct Infusion High Resolution Mass Spectrometry Correlates With Quantitative Detection in Blood of Patients With Sickle Cell Disease
2022 · S. van der Veen, M. van Dijk, et al. · HemaSphere · 2
Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease
2000 · S. Piermarocchi, Giuseppe Lo Giudice, et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 2
Molecular diagnosis of inherited diseases
1999 · A Murigia, R Polli, et al. · Clinica Chimica Acta · 2
Severe hemolytic anemia in a newborn: Look out for rare Gardos channelopathies due to KCNN4 mutation
2023 · Vania Munaretto, Maddalena Martella, et al. · Pediatric Blood & Cancer · 1
Works count: 38
Citation count: 525
H-index: 12
I10-index: 12
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