Novel nicastrin mutation in hidradenitis suppurativa–Dowling–Degos disease clinical phenotype: more than just clinical overlap?
Garcovich, S., Tricarico, P.M., Nait‐Meddour, C., Giovanardi, G., Peris, K., Crovella, S., Boniotto, M.
Published in British journal of dermatology (1951) (01.10.2020)
Published in British journal of dermatology (1951) (01.10.2020)
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Journal Article
Comorbid acne inversa and Dowling–Degos disease due to a single NCSTN mutation: is there enough evidence? Reply from the authors
Garcovich, S., Tricarico, P.M., Meddour, C.N., Giovanardi, G., Peris, K., Crovella, S., Boniotto, M.
Published in British journal of dermatology (1951) (01.02.2021)
Published in British journal of dermatology (1951) (01.02.2021)
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Journal Article
Modulation of the human cytokine response by interferon lambda-1 (IFN- 1 IL-29)
Jordan, W J, Eskdale, J, Boniotto, M, Rodia, M, Kellner, D, Gallagher, G
Published in Genes and immunity (01.01.2007)
Published in Genes and immunity (01.01.2007)
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Journal Article
X‐chromosome inactivation analysis in a female carrier of FOXP3 mutation
TOMMASINI, A., FERRARI, S., MORATTO, D., BADOLATO, R., BONIOTTO, M., PIRULLI, D., NOTARANGELO, L. D., ANDOLINA, M.
Published in Clinical and experimental immunology (01.10.2002)
Published in Clinical and experimental immunology (01.10.2002)
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Localization of b-defensin genes in non human primates
Ventura, M, Boniotto, M, Pazienza, M, Palumbo, V
Published in European journal of histochemistry (29.06.2009)
Published in European journal of histochemistry (29.06.2009)
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Journal Article
Evolution of the beta defensin 2 gene in primates
BONIOTTO, M, TOSSI, A, DELPERO, M, SGUBIN, S, ANTCHEVA, N, SANTON, D, MASTERS, J, CROVELLA, S
Published in Genes and immunity (01.06.2003)
Published in Genes and immunity (01.06.2003)
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Journal Article
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria
AMOROSO, Antonio, PIRULLI, Doroti, FERRETTINI, Cristina, BERUTTI, Silvia, PETRARULO, Michele, MARANGELLA, Martino, FLORIAN, Fiorella, PUZZER, Daniela, BONIOTTO, Michele, CROVELLA, Sergio, ZEZLINA, Silvia, SPANO, Andrea, MAZZOLA, Gina, SAVOLDI, Silvana
Published in Journal of the American Society of Nephrology (01.10.2001)
Published in Journal of the American Society of Nephrology (01.10.2001)
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Polymorphisms in the MBL2 promoter correlated with risk of HIV-1 vertical transmission and AIDS progression
Boniotto, M, Crovella, S, Pirulli, D, Scarlatti, G, Spanò, A, Vatta, L, Zezlina, S, Tovo, P A, Palomba, E, Amoroso, A
Published in Genes and immunity (01.06.2000)
Published in Genes and immunity (01.06.2000)
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Journal Article
Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease
Boniotto, M, Braida, L, Ventura, A, Percopo, S, Amoroso, A, Crovella, S
Published in Journal of medical genetics (01.09.2003)
Published in Journal of medical genetics (01.09.2003)
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Journal Article
545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
Nait Meddour, C., Tricarico, P.M., Garcovich, S., Berthier, J., Marianne, G., Jamain, S., Boniotto, M.
Published in Journal of investigative dermatology (01.12.2022)
Published in Journal of investigative dermatology (01.12.2022)
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Journal Article
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene
Masè, G, Ros, S, Gemma, A, Bonfigli, L, Carraro, N, Cazzato, G, Rolfo, M, Zanconati, F, Sepcic, J, Jurjevic, A, Pirulli, D, Boniotto, M, Zezlina, S, Crovella, S, Amoroso, A
Published in Journal of the neurological sciences (15.10.2001)
Published in Journal of the neurological sciences (15.10.2001)
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Conference Proceeding
Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis
HLADNIK, U, BRAIDA, L, BONIOTTO, M, PIRULLI, D, GERIN, F, AMOROSO, A, CROVELLA, S
Published in Clinical and experimental medicine (01.07.2002)
Published in Clinical and experimental medicine (01.07.2002)
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Polymorphism at codon 54 of mannose-binding protein gene influences AIDS progression but not HIV infection in exposed children
AMOROSO, A, BERRINO, M, BONIOTTO, M, CROVELLA, S, PALOMBA, E, SCARLATTI, G, SERRA, C, TOVO, P.-A, VATTA, S
Published in AIDS (London) (07.05.1999)
Published in AIDS (London) (07.05.1999)
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Comparative localization of the mannose-binding lectin-2 (MBL2) gene in non-human primates
Ventura, M., Boniotto, M., Montemurro, G., Segat, L., Marziliano, N., Crovella, S.
Published in Cytogenetic and genome research (01.01.2005)
Published in Cytogenetic and genome research (01.01.2005)
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311 PRS analysis in patients with hidradenitis suppurativa suggests a shared genetic vulnerability with psoriasis and Crohn’s disease
Estevao de Oliveira, A. Lima, Tricarico, P.M., Pio, D., Moltrasio, C., Marzano, A., Fania, L., Abeni, D., Crovella, S., Boniotto, M., Jamain, S.
Published in Journal of investigative dermatology (01.12.2022)
Published in Journal of investigative dermatology (01.12.2022)
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Journal Article
294 Dermcidin: a new player in a familiar case of Hidradenitis Suppurativa
Tricarico, P.M., Gratton, R., Del Vecchio, C., Ura, B., Sommella, E., Chersi, K., Krismer, B., Schittek, B., Boniotto, M., Crovella, S.
Published in Journal of investigative dermatology (01.12.2022)
Published in Journal of investigative dermatology (01.12.2022)
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Journal Article
Detection of MBL-2 gene expression in intestinal biopsies of celiac patients by in situ reverse transcription polymerase chain reaction
Boniotto, M, Radillo, O, Braida, L, Pirulli, D, Città, A, Not, T, Amoroso, A, Crovella, S
Published in European journal of histochemistry (2003)
Published in European journal of histochemistry (2003)
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Journal Article
Human beta defensin 1 gene: Six new variants
Vatta, Serena, Boniotto, Michele, Bevilacqua, Elena, Belgrano, Anna, Pirulli, Doroti, Crovella, Sergio, Amoroso, Antonio
Published in Human mutation (01.06.2000)
Published in Human mutation (01.06.2000)
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Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria
PIRULLI, Doroti, BONIOTTO, Michele, PUZZER, Daniela, SPANO, Andrea, AMOROSO, Antonio, CROVELLA, Sergio
Published in Clinical chemistry (Baltimore, Md.) (01.11.2000)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2000)
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Localization of beta-defensin genes in non human primates
Ventura, M, Boniotto, M, Pazienza, M, Palumbo, V, Cardone, M F, Rocchi, M, Tossi, A, Amoroso, A, Crovella, S
Published in European journal of histochemistry (01.04.2004)
Published in European journal of histochemistry (01.04.2004)
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