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Carmelilia De Bernardo

Syndromic true hermaphroditism due to an R-spondin1 ( RSPO1 ) homozygous mutation
2007 · Sara Tomaselli, Francesca Megiorni, et al. · Human Mutation · 264
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
2006 · Pasquale Striano, Michela Malacarne, et al. · American Journal of Medical Genetics Part A · 50
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases
2009 · Emilie Létocart, Gérald Le Gac, et al. · British Journal of Haematology · 46
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
2016 · Irene Bottillo, Carla Giordano, et al. · Cardiovascular Pathology · 44
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
2001 · Maria Giuseppina Miano, Francesco Testa, et al. · Human Mutation · 43
Correlation Between Antioxidants and Phototypes in Melanocytes Cultures. A Possible Link of Physiologic and Pathologic Relevance
1999 · Mauro Picardo, Vittoria Maresca, et al. · Journal of Investigative Dermatology · 42
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease
2009 · S. Cialfi, C. Oliviero, et al. · British Journal of Dermatology · 41
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy
2015 · Irene Bottillo, Daniela D'Angelantonio, et al. · Gene · 37
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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major
2009 · M. Andreani, F. C. Radio, et al. · Haematologica · 37
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Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes
2015 · Francesca Clementina Radio, Silvia Majore, et al. · Blood Cells Molecules and Diseases · 33
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
2006 · S Majore, F Milano, et al. · PubMed · 31
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
1999 · Maria Giuseppina Miano, Francesco Testa, et al. · European Journal of Human Genetics · 31
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation
2014 · Lucia Pedace, Luigi Laino, et al. · American Journal of Medical Genetics Part A · 29
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma
2011 · Lucia Pedace, Paola De Simone, et al. · Cancer Epidemiology · 29
Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype
2003 · R. Rinaldi, C. De Bernardo, et al. · American Journal of Medical Genetics Part A · 29
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
2013 · Irene Bottillo, Marco Castori, et al. · BMC Research Notes · 28
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Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain
2013 · Marco Castori, Silvia Morlino, et al. · American Journal of Medical Genetics Part A · 22
Novel and recurrent p14ARF mutations in Italian familial melanoma
2010 · F Binni, I Antigoni, et al. · Clinical Genetics · 21
CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma
2008 · S Majore, P De Simone, et al. · Pigment Cell & Melanoma Research · 20
Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene
1996 · Mario R. Pannarale, Barbara Grammatico, et al. · Ophthalmology · 20
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
2014 · Luigi Laino, Silvia Majore, et al. · Endocrine Connections · 19
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A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation
2014 · Marco Castori, Irene Bottillo, et al. · Molecular Syndromology · 19
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TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy
2013 · Francesca Clementina Radio, Silvia Majore, et al. · Blood Cells Molecules and Diseases · 19
Molecular characterization of 11 Italian patients with Darier Disease
2011 · Lucia Pedace, Luana Barboni, et al. · European Journal of Dermatology · 15
AXIN2 germline mutations are rare in familial melanoma
2011 · Lucia Pedace, Daniele Castiglia, et al. · Genes Chromosomes and Cancer · 14
Works count: 46
Citation count: 1,079
H-index: 20
I10-index: 29
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