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L. Perroni · SciRah

Researcher profile · Semantic Scholar

L. Perroni

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L. Perroni — researcher profile on SciRah

h-index: 18
Works: 46
Citations: 3,622

Most-cited papers

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
R. Wildin, F. Ramsdell, J. Peake, F. Faravelli +12 more
2001Nature Genetics2,026 citations
Semantic Scholar
Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
R. Bacchetta, L. Passerini, E. Gambineri, Minyue Dai +10 more
2006Journal of Clinical Investigation517 citations Open access
Semantic Scholar
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
E. Gambineri, L. Perroni, L. Passerini, Lucia Bianchi +21 more
2008Journal of Allergy and Clinical Immunology215 citations Open access
Semantic Scholar
Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).
L. Bindl, T. Torgerson, L. Perroni, N. Youssef +3 more
2005Jornal de Pediatria117 citations
Semantic Scholar
Acidified Glycerol Lysis Test: a Screening Test for Spherocytosis
Alberto Zanella, C. Izzo, P. Rebulla, F. Zanuso +2 more
1980British Journal of Haematology99 citations
Semantic Scholar
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome
L. Passerini, S. di Nunzio, S. Gregori, E. Gambineri +9 more
2011European Journal of Immunology86 citations Open access
Semantic Scholar
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.
F. de Benedetti, A. Insalaco, A. Diamanti, E. Cortis +10 more
2006Clinical Gastroenterology and Hepatology63 citations Open access
Semantic Scholar
Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.
S. di Nunzio, M. Cecconi, L. Passerini, Alicia N McMurchy +12 more
2009Blood52 citations Open access
Semantic Scholar
Immune Reconstitution and Recovery of FOXP3 (Forkhead Box P3)-Expressing T Cells After Transplantation for IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Syndrome
H. Zhan, J. Sinclair, S. Adams, C. Cale +5 more
2008Pediatrics49 citations
Semantic Scholar
Clinical and molecular findings in IPEX syndrome
A. Myers, L. Perroni, C. Costigan, W. Reardon
2005Archives of Disease in Childhood48 citations Open access
Semantic Scholar
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence.
M. d'Urso, L. Luzzatto, L. Perroni, A. Ciccodicola +6 more
1988American Journal of Human Genetics30 citations
Semantic Scholar
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
M. Grasso, F. Faravelli, C. L. Nigro, Pietro Chiurazzi +9 more
1999American journal of medical genetics28 citations
Semantic Scholar
Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene
M. Cecconi, F. Forzano, L. Garavelli, C. Pantaleoni +5 more
2008American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
The first stable variant of erythrocyte glucose‐phosphate isomerase associated with severe hemolytic anemia
A. Zanella, C. Izzo, P. Rebulla, L. Perroni +4 more
1980American journal of hematology/oncology24 citations
Semantic Scholar
Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
S. Cavani, C. Perfumo, A. Argusti, M. Pierluigi +7 more
1998British Journal of Haematology23 citations
Semantic Scholar
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment
A. Cocchella, M. Malacarne, F. Forzano, C. Marciano +4 more
2010American Journal of Medical Genetics Part B: Neuropsychiatric Genetics22 citations
Semantic Scholar
The H1 Haplotype of the Tau Gene (MAPT) is Associated with Mild Cognitive Impairment
E. Di Maria, S. Cammarata, M. Parodi, R. Borghi +12 more
2010Journal of Alzheimer's Disease21 citations
Semantic Scholar
Erythrocyte pyruvate kinase deficiency: 11 new cases
A. Zanella, M. B. Colombo, R. Miniero, L. Perroni +2 more
1988British Journal of Haematology18 citations
Semantic Scholar
Isochromosome not translocation in trisomy 21q21q
M. Grasso, M. L. Giovannucci Uzielli, Mauro Pierluigi, F. Tavellini +2 more
1989Human Genetics17 citations
Semantic Scholar
Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.
F. D. Bricarelli, Mauro Pierluigi, M. Grasso, P. Strigini +1 more
2005American journal of medical genetics. Supplement15 citations
Semantic Scholar
Expression of the human ETS-2 oncogene in normal fetal tissues and in the brain of a fetus with trisomy 21
M. Baffico, L. Perroni, A. Rasore-Quartino, P. Scartezzini
1989Human Genetics14 citations
Semantic Scholar
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother
C. L. Nigro, F. Faravelli, S. Cavani, L. Perroni +4 more
2000European Journal of Human Genetics12 citations
Semantic Scholar
Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.
L. Perroni, M. Grasso, A. Argusti, C. L. Nigro +4 more
1996American journal of medical genetics12 citations
Semantic Scholar
Glucose‐6‐Phosphate Dehydrogenase Variants from Italian Subjects Associated with Severe Neonatal Jaundice
G. Sansone, L. Perroni, A. Yoshida
1975British Journal of Haematology11 citations
Semantic Scholar
Crossing over and chromosome 21 nondisjunction: a study of 60 families.
L. Perroni, F. D. Bricarelli, M. Grasso, Mauro Pierluigi +3 more
2005American journal of medical genetics. Supplement10 citations
Semantic Scholar
Deletion of NSD1 exon 14 in Sotos syndrome: first description
M. Piccione, V. Consiglio, A. Di Fiore, M. Grasso +3 more
2011Journal Genetika8 citations
Semantic Scholar
You say tomato, I say tomato
R. Wildin, F. Ramsdell, J. Peake, F. Faravelli +12 more
2001Nature Genetics7 citations Open access
Semantic Scholar
Lack of evidence of a genetic origin in the impaired spermatogenesis of a patient cohort with low-grade varicocele
L. Foppiani, S. Cavani, S. Piredda, L. Perroni +2 more
2001Journal of Endocrinological Investigation7 citations
Semantic Scholar
Identification of ring Y chromosome: cytogenetic analysis, Southern blot and fluorescent in situ hybridization.
A. Pezzolo, L. Perroni, Giorgio Gimelli, A. Arslanian +3 more
1993Annales de Genetique7 citations
Semantic Scholar
High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
F. D. Bricarelli, M. Pierluigi, L. Perroni, M. Grasso +2 more
1988Human Genetics7 citations
Semantic Scholar
New genetic variants of glucose 6‐phosphate dehydrogenase (G6PD) in Italy
G. Sansone, L. Perroni, U. Testa, C. Mareni +1 more
1981Annals of Human Genetics7 citations
Semantic Scholar
Wild-type FOXP 3 is selectively active in CD 4 CD 25 hi regulatory T cells of healthy female carriers of different FOXP 3 mutations
S. di Nunzio, M. Cecconi, L. Passerini, Alicia N McMurchy +12 more
20096 citations
Semantic Scholar
A new glucose 6-phosphate dehydrogenase variant (GDTrinacria) in two unrelated families of Sicilian ancestry.
G. Sansone, L. Perroni, A. Yoshida, V. Davé
1977Italian Journal of Biochemistry5 citations
Semantic Scholar
Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome (IPEX): report of the first prenatal mutation testing
L. Perroni, F. Faravelli, R. Cusano, F. Forzano +3 more
2006Prenatal Diagnosis4 citations
Semantic Scholar
Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.
M. Grasso, L. Perroni, S. Colella, Giuseppe Piombo +6 more
1996American journal of medical genetics4 citations
Semantic Scholar
A polymorphic SstI site within the human ets-1 gene in the 11q23 region.
N. Sacchi, L. Perroni, T. Papas
1986Nucleic Acids Research4 citations Open access
Semantic Scholar
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
M. Grasso, M. Cecconi, S. Boni, F. Forzano +5 more
2010Molecular and Cellular Probes1 citations
Semantic Scholar
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes
R. Bacchetta, L. Passerini, E. Gambineri, S. Allan +6 more
20061 citations
Semantic Scholar
WCN24-1029 PREVALENCE AND CLINICAL CHARACTERISTICS OF PATIENTS WITH CARDIORENAL SYNDROME WITH REDUCED VENTRICULAR FUNCTION
R. Silvariño, Francisco Bonanata, H. Cabrera, Júlia Castro +4 more
2024Kidney International Reports0 citations Open access
Semantic Scholar
F.75. Molecular and Functional Studies in T Cells from Healthy Carriers of FOXP3 Mutations
R. Bacchetta, S. di Nunzio, L. Perroni, L. Passerini +5 more
20080 citations
Semantic Scholar
[New genetic variants of glucose-6-phosphate dehydrogenase in Italy. Biochemical and metabolic characteristics].
L. Perroni, M. Baldi, S. Reali
1985Pathologica0 citations
Semantic Scholar
[G6PD deficiency in a western area of Genoa. Genetic study of 4 new variants].
L. Perroni, P. Di Pietro, M. Spandonari, P. Tassara +2 more
1983La Pediatria Medica e Chirurgica0 citations
Semantic Scholar
Red cell G6PD decay in circulating cells: a possible marker for variants identification.
G. Pescarmona, F. Turrini, A. Naitana, Amalia Bosia +1 more
1983Biomedica biochimica acta0 citations
Semantic Scholar
Red cell glucosephosphate isomerase deficiency: two new mutant enzymes.
A. Zanella, C. Izzo, G. Fagnani, F. Zanuso +4 more
1980Haematologica0 citations
Semantic Scholar
Letters to the editor: Acute hemolytic anemia, G-6PD deficiency and viral hepatitis.
G. Sansone, L. Robert, L. Perroni
1975Haematologica0 citations
Semantic Scholar
[Variant A of G-6-PD in a family strain of Sicilian origin].
G. Sansone, L. Perroni
1973Pathologica0 citations
Semantic Scholar

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F. D. Bricarelli×11
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F. D. Bricarelli — researcher profile on SciRah
M. Grasso×11
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F. Faravelli×8
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R. Bacchetta×7
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L. Passerini — researcher profile on SciRah

M. Roncarolo×7

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G. Sansone — researcher profile on SciRah

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M. Cecconi — researcher profile on SciRah

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E. Gambineri×4

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E. Gambineri — researcher profile on SciRah

A. Tommasini×4

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