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S. Majore · SciRah

Researcher profile · Semantic Scholar

S. Majore

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S. Majore — researcher profile on SciRah

h-index: 22
Works: 78
Citations: 1,663

Most-cited papers

Syndromic true hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
S. Tomaselli, F. Megiorni, C. De Bernardo, A. Felici +9 more
2008Human Mutation170 citations
Semantic Scholar
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
A. De Luca, I. Bottillo, A. Sarkozy, C. Carta +14 more
2005American Journal of Human Genetics155 citations Open access
Semantic Scholar
Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
O. Gribouval, V. Moriniére, Audrey Pawtowski, Christelle Arrondel +51 more
2012Human Mutation106 citations Open access
Semantic Scholar
Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
M. Iannicelli, F. Brancati, S. Mougou-Zerelli, A. Mazzotta +28 more
2010Human Mutation104 citations Open access
Semantic Scholar
Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling
S. Tomaselli, F. Megiorni, Lin Lin, M. C. Mazzilli +4 more
2011PLoS ONE80 citations Open access
Semantic Scholar
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
M. Cecconi, F. Forzano, Donatella Milani, S. Cavani +18 more
2005American Journal of Medical Genetics. Part A71 citations
Semantic Scholar
Schimke immunoosseous dysplasia: suggestions of genetic diversity
J. Marietta Clewing, H. Fryssira, David Goodman, S. Smithson +57 more
2007Human Mutation65 citations Open access
Semantic Scholar
6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases
M. Elia, P. Striano, M. Fichera, R. Gaggero +12 more
2006Epilepsia53 citations Open access
Semantic Scholar
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
L. Stuppia, I. Antonucci, F. Binni, Alessandra Brandi +19 more
2005European Journal of Human Genetics53 citations
Semantic Scholar
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases
E. Létocart, G. Le Gac, S. Majore, C. Ka +5 more
2009British Journal of Haematology47 citations
Semantic Scholar
Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.
F. Baldinotti, S. Majore, A. Fogli, G. Marrocco +9 more
2008Journal of Andrology47 citations Open access
Semantic Scholar
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major
M. Andreani, F. C. Radio, M. Testi, C. De Bernardo +6 more
2009Haematologica41 citations Open access
Semantic Scholar
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
I. Bottillo, C. Giordano, B. Cerbelli, D. D'Angelantonio +14 more
2016Cardiovascular pathology40 citations
Semantic Scholar
MUTATION IN BRIEF
S. Majore, F. Binni, A. Pennese, A. De Santis +3 more
35 citations
Semantic Scholar
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
I. Bottillo, D. D'Angelantonio, V. Caputo, A. Paiardini +9 more
2016Gene34 citations Open access
Semantic Scholar
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
S. Majore, Filippo Milano, F. Binni, L. Stuppia +5 more
2006Haematologica32 citations
Semantic Scholar
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
F. C. Radio, S. Majore, C. Aurizi, F. Sorge +7 more
2015Blood Cells, Molecules & Diseases31 citations
Semantic Scholar
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation
L. Pedace, L. Laino, N. Preziosi, Maria Stella Valentini +8 more
2014American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
Giulia Pascolini, E. Agolini, S. Majore, A. Novelli +2 more
2018European journal of paediatric neurology26 citations
Semantic Scholar
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer
O. Caluseriu, Emanuela Lucci Cordisco, A. Viel, S. Majore +3 more
2001Human Mutation26 citations Open access
Semantic Scholar
Novel and recurrent p14ARF mutations in Italian familial melanoma
F. Binni, I. Antigoni, P. De Simone, S. Majore +8 more
2010Clinical Genetics24 citations
Semantic Scholar
CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma
S. Majore, P. De Simone, A. Crisi, L. Eibenschutz +5 more
2008Pigment Cell & Melanoma Research23 citations
Semantic Scholar
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
F. C. Radio, S. Majore, F. Binni, M. Valiante +4 more
2014Blood Cells, Molecules & Diseases21 citations
Semantic Scholar
Schimke immunoosseous dysplasia: defining skeletal features
K. Hunter, T. Lücke, J. Spranger, S. Smithson +26 more
2009European Journal of Pediatrics21 citations Open access
Semantic Scholar
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
L. Laino, S. Majore, N. Preziosi, B. Grammatico +6 more
2014Endocrine Connections19 citations Open access
Semantic Scholar
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
S. Majore, G. Biolcati, Luana Barboni, C. Cannistraci +4 more
2005Journal of Investigative Dermatology19 citations Open access
Semantic Scholar
Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
M. Ritelli, S. Morlino, E. Giacopuzzi, Giulia Carini +5 more
2017American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Vaginoplasty for Disorders of Sex Development
N. Guarino, S. Scommegna, S. Majore, Anna Maria Rapone +4 more
2013Frontiers in Endocrinology17 citations Open access
Semantic Scholar
Allelic Distribution of CCR5 and CCR2 Genes in an Italian Population Sample
V. Romano-Spica, A. Ianni, D. Arzani, L. Cattarini +2 more
2000AIDS Research and Human Retroviruses16 citations
Semantic Scholar
Fontaine–Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies
M. Castori, E. Silvestri, L. Pedace, G. Marseglia +5 more
2009American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations
Giulia Pascolini, E. Agolini, Nicole J. Fleischer, E. Gulotta +5 more
2020American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
AXIN2 germline mutations are rare in familial melanoma
L. Pedace, D. Castiglia, P. De Simone, M. Castori +9 more
2011Genes, Chromosomes and Cancer13 citations
Semantic Scholar
Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.
G. Marrocco, M. Poscente, S. Majore, C. De Bernardo +4 more
2003Journal of Pediatric Surgery12 citations
Semantic Scholar
Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload.
S. Majore, F. Binni, B. Ricerca, G. Brioli +1 more
2002Haematologica12 citations
Semantic Scholar
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
S. Majore, Maria Carmela Bonaccorsi di Patti, M. Valiante, F. Polticelli +8 more
2018Biochimica et Biophysica Acta - Molecular Basis of Disease11 citations Open access
Semantic Scholar
Unexplained isolated hyperferritinemia without iron overload
Giulia Ravasi, S. Pelucchi, R. Mariani, M. Casati +7 more
2017American journal of hematology/oncology11 citations Open access
Semantic Scholar
Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome
S. Majore, E. Agolini, L. Micale, Giulia Pascolini +8 more
2020Clinical Genetics10 citations
Semantic Scholar
CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.
S. Majore, C. Catricalá, F. Binni, P. De Simone +2 more
2004Journal of Investigative Dermatology10 citations Open access
Semantic Scholar
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
M. P. Leone, S. Morlino, G. Nardella, R. Pracella +32 more
2023Human Genetics9 citations
Semantic Scholar
de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
F. L. Harms, A. Dingemans, M. Hempel, R. Pfundt +23 more
2023Genetics in Medicine9 citations Open access
Semantic Scholar
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers
Giulia Pascolini, Nicole J. Fleischer, A. Ferraris, S. Majore +1 more
2019Journal of Human Genetics9 citations
Semantic Scholar
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family
I. Cosentino, F. Zeri, P. Swann, S. Majore +4 more
2016Ophthalmic Genetics9 citations Open access
Semantic Scholar
Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction?
S. Majore, B. Ricerca, F. C. Radio, F. Binni +5 more
2013Blood Cells, Molecules & Diseases9 citations
Semantic Scholar
CCR2 and CCR5 gene polymorphisms in children with recurrent respiratory infections.
A. Ianni, S. Majore, D. Arzani, I. Carboni +2 more
2001Respiratory Medicine7 citations Open access
Semantic Scholar
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?
N. Di Giosaffatte, A. Ferraris, Federica Gaudioso, V. Lodato +8 more
2022Genes6 citations Open access
Semantic Scholar
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation
Giulia Pascolini, Federica Gaudioso, C. Passarelli, A. Novelli +3 more
2021Journal of Molecular Neuroscience6 citations
Semantic Scholar
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
L. Pedace, M. Castori, F. Binni, A. Pingi +4 more
2009European Journal of Medical Genetics6 citations
Semantic Scholar
Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female.
M. Castori, S. Majore, F. Romanelli, B. Didona +2 more
2008EJD. European journal of dermatology6 citations
Semantic Scholar
46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.
P. Grammatico, S. Majore, G. Marrocco, M. Poscente +3 more
1999Genetic Counseling6 citations
Semantic Scholar
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
E. Colombo, M. Valiante, Matteo Uggeri, A. Orro +7 more
2023International Journal of Molecular Sciences5 citations Open access
Semantic Scholar

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