Mauro Paradisi

Summary

Affiliation: Istituto Dermopatico dell'Immacolata
Country: Italy

Publications

  1. pmc Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
    Mauro Paradisi
    VII Divisione, Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    BMC Cell Biol 6:27. 2005
  2. ncbi [A Pediatric case of lupoid leishmaniasis diagnosed by PCR]
    M Paradisi
    VII Divisione Dermatologia Pediatrica, IDI IRCCS, Roma
    Minerva Pediatr 53:33-7. 2001
  3. ncbi Atrophia maculosa varioliformis cutis: a pediatric case
    M Paradisi
    VII Division of Pediatric Dermatology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    Pediatr Dermatol 18:478-80. 2001
  4. ncbi [PTPN11 gene mutation in LEOPARD syndrome]
    M Paradisi
    Sezione di Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IDI, Rome
    Minerva Pediatr 57:189-93. 2005
  5. ncbi Annular lichenoid dermatitis of youth
    Giorgio Annessi
    Servizio di Istopatologia, Istituto Dermopatico dell Immacolata, IRCCS, Via Monti di Creta 104, 00167 Rome, Italy
    J Am Acad Dermatol 49:1029-36. 2003
  6. ncbi Dermatitis artefacta in a child
    Enzo D Finore
    Clinical Psychology and Psychosomatic Psychotherapy Service, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    Pediatr Dermatol 24:E51-6. 2007
  7. ncbi Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa
    Rita Gardella
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Italy
    J Invest Dermatol 119:1456-62. 2002
  8. ncbi Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
    Karl Heinz Grzeschik
    Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
    Nat Genet 39:833-5. 2007
  9. doi Reproducibility of severity rating for atopic dermatitis
    Eva Mazzotti
    Acta Derm Venereol 88:60-1. 2008

Collaborators

  • Karima Djabali
  • Giorgio Annessi
  • Michael Hertl
  • R Happle
  • Howard Worman
  • E Conti
  • Eva Mazzotti
  • Karl Heinz Grzeschik
  • Enzo D Finore
  • Gianluca Tadini
  • Rita Gardella
  • Stefano Tabolli
  • Alessi Provini
  • Arne König
  • Vinzenz Oji
  • Elisabetta Andreoli
  • Cristina Pedicelli
  • María del Carmen Boente
  • Heiko Traupe
  • Katja Höfling
  • Christian Schuchardt
  • Herbert Enders
  • Dorothea Bornholdt
  • Stefania Alfani
  • Giuliana Palermi
  • Ute Grasshoff
  • Frank Oeffner
  • Barbara Fritz
  • Zsuzsanna Szalai
  • Patrizia Posteraro
  • Sergio Barlati
  • Nicoletta Zoppi
  • Daniele Castiglia
  • Giovanna Zambruno
  • Silvia Bernardini
  • John A McGrath
  • Marina Colombi

Detail Information

Publications9

  1. pmc Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
    Mauro Paradisi
    VII Divisione, Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    BMC Cell Biol 6:27. 2005
    ..The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT), within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein...
  2. ncbi [A Pediatric case of lupoid leishmaniasis diagnosed by PCR]
    M Paradisi
    VII Divisione Dermatologia Pediatrica, IDI IRCCS, Roma
    Minerva Pediatr 53:33-7. 2001
    ..The therapeutic strategy of a combination of oral itraconazole and infiltration of metilglucamina antimoniate has been carried out, with good result, as checked through "telemedicine"...
  3. ncbi Atrophia maculosa varioliformis cutis: a pediatric case
    M Paradisi
    VII Division of Pediatric Dermatology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
    Pediatr Dermatol 18:478-80. 2001
    ..Considering that atrophia maculosa varioliformis cutis can be mistaken for a scarring and artifact dermatitis, it is important for physicians to distinguish this condition. We report a new case in a 5-year-old boy...
  4. ncbi [PTPN11 gene mutation in LEOPARD syndrome]
    M Paradisi
    Sezione di Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IDI, Rome
    Minerva Pediatr 57:189-93. 2005
    ..The molecular analysis revealed a missense mutation (A836G) in hexone 7 (TYR279CYS) of the PTPNII gene. This mutation is has been observed, at present, in a few cases of ML/LS and Noonan syndrome...
  5. ncbi Annular lichenoid dermatitis of youth
    Giorgio Annessi
    Servizio di Istopatologia, Istituto Dermopatico dell Immacolata, IRCCS, Via Monti di Creta 104, 00167 Rome, Italy
    J Am Acad Dermatol 49:1029-36. 2003
    ..Lichenoid dermatoses are composed of a wide spectrum of disorders with a common histopathologic interface pattern but diverse causes and pathophysiology...
  6. ncbi Dermatitis artefacta in a child
    Enzo D Finore
    Clinical Psychology and Psychosomatic Psychotherapy Service, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
    Pediatr Dermatol 24:E51-6. 2007
    ..The source of this disorder must therefore be found in socio-relational difficulties within the family and school environments, which lead the patient to self-harm behaviors that have a high communication value...
  7. ncbi Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa
    Rita Gardella
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Italy
    J Invest Dermatol 119:1456-62. 2002
    ..Altogether recurrent mutations account for approximately 43% of RDEB alleles in Italian patients and therefore new DEB patients should first be screened for the presence of these mutations...
  8. ncbi Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
    Karl Heinz Grzeschik
    Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
    Nat Genet 39:833-5. 2007
    ..The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN...
  9. doi Reproducibility of severity rating for atopic dermatitis
    Eva Mazzotti
    Acta Derm Venereol 88:60-1. 2008