Giovanna Zambruno

Giovanna Zambruno

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Giovanna Zambruno

Giovanna Zambruno

Publications by authors named "Giovanna Zambruno"

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Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Acta Derm Venereol 2019 Jul;99(9):831-832

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta, 104, IT-00167 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3216DOI Listing
July 2019

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

Ital J Pediatr 2019 Feb 19;45(1):26. Epub 2019 Feb 19.

Department of Dermatology, Necker-Enfants Malades Hospital, Centre de Référence National pour les Maladies Génétiques à Expression Cutanée (MAGEC), APHP, Paris, France.

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-019-0618-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381706PMC
February 2019

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence.

J Invest Dermatol 2019 Jan 25;139(1):38-50. Epub 2018 Sep 25.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183232
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http://dx.doi.org/10.1016/j.jid.2018.06.181DOI Listing
January 2019

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Exp Dermatol 2018 Apr 19. Epub 2018 Apr 19.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/exd.13667DOI Listing
April 2018

Local anesthesia in pediatric dermatologic surgery: Evaluation of a patient-centered approach.

Pediatr Dermatol 2018 Jan 15;35(1):112-116. Epub 2017 Dec 15.

Clinical Epidemiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://doi.wiley.com/10.1111/pde.13347
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http://dx.doi.org/10.1111/pde.13347DOI Listing
January 2018

Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development.

Matrix Biol 2017 11 24;63:1-10. Epub 2017 Jan 24.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X163032
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http://dx.doi.org/10.1016/j.matbio.2017.01.002DOI Listing
November 2017

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.

Acta Derm Venereol 2017 Nov;97(10):1249-1251

Dermatology Division, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.

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http://dx.doi.org/10.2340/00015555-2752DOI Listing
November 2017

Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa.

Am J Pathol 2017 Jul 29;187(7):1445-1453. Epub 2017 Apr 29.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2017.03.003DOI Listing
July 2017

Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.

Acta Derm Venereol 2016 Nov;96(7):954-958

Dermatology Division, Bambino Gesù Children's Hospital-IRCCS, P.zza Sant'Onofrio, 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-2439DOI Listing
November 2016

Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.

Acta Derm Venereol 2016 Aug;96(6):784-7

Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza Sant'Onofrio, 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-2364DOI Listing
August 2016

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.

Exp Dermatol 2016 07 20;25(7):568-70. Epub 2016 May 20.

Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.

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http://dx.doi.org/10.1111/exd.13011DOI Listing
July 2016

Pemphigoid Gestationis Complicating an Egg Donation Pregnancy.

Acta Derm Venereol 2016 06;96(5):695-6

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS, 00167 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-2303DOI Listing
June 2016

Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.

Pediatr Dermatol 2015 Mar-Apr;32(2):e42-7. Epub 2015 Jan 30.

Department of Dermatology, Parma University Hospital, Parma, Italy.

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http://dx.doi.org/10.1111/pde.12513DOI Listing
December 2015

The E3 ligase Itch knockout mice show hyperproliferation and wound healing alteration.

FEBS J 2015 Dec 12;282(23):4435-49. Epub 2015 Oct 12.

Department of Experimental Medicine and Surgery, University of 'Tor Vergata', Rome, Italy.

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http://dx.doi.org/10.1111/febs.13514DOI Listing
December 2015

Interleukin-22 Promotes Wound Repair in Diabetes by Improving Keratinocyte Pro-Healing Functions.

J Invest Dermatol 2015 Nov 13;135(11):2862-2870. Epub 2015 Jul 13.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.278DOI Listing
November 2015

Ichthyosis with confetti: clinics, molecular genetics and management.

Orphanet J Rare Dis 2015 Sep 17;10:115. Epub 2015 Sep 17.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-015-0336-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573700PMC
September 2015

Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.

J Dermatol 2015 Aug 28;42(8):786-94. Epub 2015 Apr 28.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/1346-8138.12913DOI Listing
August 2015

Clonal analysis of B-cell response in pemphigus course: toward more effective therapies.

J Invest Dermatol 2015 Mar;135(3):651-654

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.499DOI Listing
March 2015

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

J Allergy Clin Immunol 2015 Jan 11;135(1):280-3. Epub 2014 Nov 11.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.09.042DOI Listing
January 2015

Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.

Acta Derm Venereol 2014 Sep;94(5):579-82

Dermatology Division, Bambino Gesù Children's Hospital-IRCCS, P.zza Sant'Onofrio, 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-1796DOI Listing
September 2014

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

J Invest Dermatol 2014 Aug 27;134(8):2146-2153. Epub 2014 Feb 27.

Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153694
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http://dx.doi.org/10.1038/jid.2014.119DOI Listing
August 2014

T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.

Acta Derm Venereol 2014 May;94(3):307-11

Laboratory of Molecular and Cell Biology, Instituto Dermopatico dell'Immacolata-IRCCS Via dei Monti di Creta, 104, IT-00167 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-1691DOI Listing
May 2014

Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.

Pediatr Dermatol 2013 Jul-Aug;30(4):e65-7. Epub 2013 Jan 17.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/pde.12076DOI Listing
February 2014

Diabetes impairs adipose tissue-derived stem cell function and efficiency in promoting wound healing.

Wound Repair Regen 2013 Jul-Aug;21(4):545-53. Epub 2013 Apr 29.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/wrr.12051DOI Listing
February 2014

Kindlin-1 regulates integrin dynamics and adhesion turnover.

PLoS One 2013 11;8(6):e65341. Epub 2013 Jun 11.

Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0065341PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679067PMC
January 2014

Kindlin-1 mutant zebrafish as an in vivo model system to study adhesion mechanisms in the epidermis.

J Invest Dermatol 2013 Sep 2;133(9):2180-90. Epub 2013 Apr 2.

The Netherlands Cancer Institute, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/jid.2013.154DOI Listing
September 2013

The atypical retinoid E-3-(3'-Adamantan-1-yl-4'-methoxybiphenyl-4-yl)-2-propenoic acid (ST1898) displays comedolytic activity in the rhino mouse model.

Eur J Dermatol 2012 Jul-Aug;22(4):505-11

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.

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http://dx.doi.org/10.1684/ejd.2012.1778DOI Listing
February 2013

Endemic pemphigus foliaceus: towards understanding autoimmune mechanisms of disease development.

J Invest Dermatol 2012 Nov;132(11):2499-502

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI-IRCCS), Rome, Italy.

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http://dx.doi.org/10.1038/jid.2012.369DOI Listing
November 2012

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.

J Hum Genet 2012 May 1;57(5):311-5. Epub 2012 Mar 1.

Dermatology Unit, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy.

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http://www.nature.com/articles/jhg201222
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http://dx.doi.org/10.1038/jhg.2012.22DOI Listing
May 2012

Bullous pemphigoid: from the clinic to the bench.

Clin Dermatol 2012 Jan-Feb;30(1):3-16

Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S0738081X110008
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http://dx.doi.org/10.1016/j.clindermatol.2011.03.005DOI Listing
March 2012

Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis.

J Invest Dermatol 2011 Nov 23;131(11):2223-32. Epub 2011 Jun 23.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/jid.2011.174DOI Listing
November 2011

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Hum Mutat 2011 Nov 20;32(11):1204-12. Epub 2011 Sep 20.

Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/humu.21576DOI Listing
November 2011

Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon.

J Med Genet 2011 Sep 21;48(9):640-4. Epub 2011 Jun 21.

Division of MolecularPediatrics, Children’s Hospital,University of Erlangen-Nu¨rnberg,Erlangen, Germany.

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http://dx.doi.org/10.1136/jmg.2011.089615DOI Listing
September 2011

COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only.

Dermatology 2011 Feb 29;222(1):10-4. Epub 2010 Dec 29.

Department of Dermatology, University of Sassari, Sassari, Italy.

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https://www.karger.com/Article/FullText/322619
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http://dx.doi.org/10.1159/000322619DOI Listing
February 2011

Family burden in epidermolysis bullosa is high independent of disease type/subtype.

Acta Derm Venereol 2010 Nov;90(6):607-11

Istituto Dermopatico Dell’Immacolata – Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

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http://dx.doi.org/10.2340/00015555-0947DOI Listing
November 2010

Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model.

J Invest Dermatol 2010 Apr 8;130(4):1040-7. Epub 2009 Oct 8.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/jid.2009.309DOI Listing
April 2010

Bmi-1 reduction plays a key role in physiological and premature aging of primary human keratinocytes.

J Invest Dermatol 2010 Apr 12;130(4):1048-62. Epub 2009 Nov 12.

Laboratory of Tissue Engineering and Cutaneous Physiopathology, IDI, Istituto Dermopatico dell'Immacolata, Rome, Italy.

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http://dx.doi.org/10.1038/jid.2009.355DOI Listing
April 2010

Molecular testing in epidermolysis bullosa.

Dermatol Clin 2010 Apr;28(2):223-9, vii-viii

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.det.2009.12.003DOI Listing
April 2010

Epidermolysis bullosa care in Italy.

Dermatol Clin 2010 Apr;28(2):407-9, xiv-xv

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.det.2010.02.016DOI Listing
April 2010

TSH receptor and thyroid-specific gene expression in human skin.

J Invest Dermatol 2010 Jan;130(1):93-101

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/jid.2009.180DOI Listing
January 2010

Mutation mechanisms.

Dermatol Clin 2010 Jan;28(1):17-22

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.

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http://dx.doi.org/10.1016/j.det.2009.10.002DOI Listing
January 2010

Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.

Am J Med Genet A 2010 Jan;152A(1):25-31

Medical Genetics, Department of Experimental Medicine, "Sapienza" University, San Camillo-Forlanini Hospital, Circ. ne Gianicolense, 87, I-00152 Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33175DOI Listing
January 2010

Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.

Eur J Med Genet 2009 Jan-Feb;52(1):53-8. Epub 2008 Oct 17.

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2008.09.005DOI Listing
April 2009

Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.

Acta Derm Venereol 2008 ;88(6):607-12

Laboratory of Molecular and Cell Biology, Rome Italy.

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http://dx.doi.org/10.2340/00015555-0547DOI Listing
January 2009

Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.

J Invest Dermatol 2008 Dec 19;128(12):2815-9. Epub 2008 Jun 19.

Laboratory of Molecular and Cell Biology, Immacolata Dermatological Hospital, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/jid.2008.143DOI Listing
December 2008

Rituximab immunotherapy in pemphigus: therapeutic effects beyond B-cell depletion.

J Invest Dermatol 2008 Dec;128(12):2745-7

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/jid.2008.330DOI Listing
December 2008

Inhibition of endothelial cell migration and angiogenesis by a vascular endothelial growth factor receptor-1 derived peptide.

Eur J Cancer 2008 Sep 3;44(13):1914-21. Epub 2008 Aug 3.

Laboratory of Molecular Oncology, Istituto Dermopatico dell'Immacolata-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejca.2008.06.032DOI Listing
September 2008

Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma.

Genes Chromosomes Cancer 2008 Jul;47(7):614-24

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/gcc.20567DOI Listing
July 2008

Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female.

Eur J Dermatol 2008 Jan-Feb;18(1):22-5. Epub 2007 Dec 18.

Medical Genetics, Experimental Medicine Department, University La Sapienza, S. Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1684/ejd.2008.0305DOI Listing
June 2008

Phacomatosis cesioflammea with unilateral lipohypoplasia.

Am J Med Genet A 2008 Feb;146A(4):492-5

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32165DOI Listing
February 2008

Long-term engraftment of single genetically modified human epidermal holoclones enables safety pre-assessment of cutaneous gene therapy.

Mol Ther 2007 Sep 19;15(9):1670-6. Epub 2007 Jun 19.

Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas, Centro de Investigación Biomédica en Red de Enfermedades, Raras, Madrid, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S152500161632032
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http://dx.doi.org/10.1038/sj.mt.6300238DOI Listing
September 2007

Distinct vascular endothelial growth factor signals for lymphatic vessel enlargement and sprouting.

J Exp Med 2007 Jun 29;204(6):1431-40. Epub 2007 May 29.

Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, Haartman Institute and Helsinki University Hospital, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1084/jem.20062642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2118625PMC
June 2007

The intracellular and extracellular domains of BP180 antigen comprise novel epitopes targeted by pemphigoid gestationis autoantibodies.

J Invest Dermatol 2007 Apr 19;127(4):864-73. Epub 2006 Oct 19.

Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/sj.jid.5700594DOI Listing
April 2007

Oral pemphigoid autoantibodies preferentially target BP180 ectodomain.

Clin Immunol 2007 Feb 1;122(2):207-13. Epub 2006 Dec 1.

Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.clim.2006.10.007DOI Listing
February 2007

Placenta growth factor in diabetic wound healing: altered expression and therapeutic potential.

Am J Pathol 2006 Oct;169(4):1167-82

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta, 104, 00167 Rome, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698842PMC
http://dx.doi.org/10.2353/ajpath.2006.051314DOI Listing
October 2006