Publications by authors named "Renata Boldrini"

100Publications

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe.

Pediatr Dermatol 2020 Mar 19;37(2):393-395. Epub 2020 Jan 19.

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

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http://dx.doi.org/10.1111/pde.14105DOI Listing
March 2020

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

Acta Derm Venereol 2019 02;99(2):238-239

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital-IRCCS, Piazza S. Onofrio 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3046DOI Listing
February 2019

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases.

BMC Pediatr 2018 05 15;18(1):166. Epub 2018 May 15.

Department of Pediatric Hematology/Oncology, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s12887-018-1128-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953406PMC
May 2018

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

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

J Neurol 2016 Oct 20;263(10):2133-5. Epub 2016 Aug 20.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-016-8268-zDOI Listing
October 2016

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

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.

Ital J Pediatr 2016 Feb 29;42:23. Epub 2016 Feb 29.

Pneumology Unit - Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13052-016-0235-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772310PMC
February 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

Mediastinal Germ Cell Tumors in Pediatric Patients: A Report From the Italian Association of Pediatric Hematology and Oncology.

Pediatr Blood Cancer 2016 May 14;63(5):808-12. Epub 2016 Jan 14.

Operative Unit of General and Thoracic Surgery, Bambino Gesù Pediatric Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/pbc.25895DOI Listing
May 2016

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Orphanet J Rare Dis 2016 Jan 13;11. Epub 2016 Jan 13.

Molecular Genetics Laboratory, Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-016-0384-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712481PMC
January 2016

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.

Biochem Soc Trans 2015 Oct;43(5):913-9

Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, 4 Piazza S. Onofrio, Rome 00165, Italy Division of Neonatology, University of California San Francisco, 1001 Potrero Avenue, San Francisco, CA 194116, U.S.A.

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http://dx.doi.org/10.1042/BST20150100DOI Listing
October 2015

Tumor-infiltrating T lymphocytes improve clinical outcome of therapy-resistant neuroblastoma.

Oncoimmunology 2015 Sep 2;4(9):e1019981. Epub 2015 Apr 2.

Paediatric Haematology/Oncology Department; IRCCS; Ospedale Pediatrico Bambino Gesù , Rome, Italy.

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http://dx.doi.org/10.1080/2162402X.2015.1019981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570119PMC
September 2015

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective.

Neuromuscul Disord 2015 Aug 12;25(8):672-3. Epub 2015 May 12.

Department of Pathology, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2015.05.004DOI Listing
August 2015

Endobronchial tumor in children: Unusual finding in recurrent pneumonia, report of three cases.

World J Clin Pediatr 2015 May 8;4(2):30-4. Epub 2015 May 8.

Silvia Madafferi, Vincenzo D Catania, Antonella Accinni, Alessandro Inserra, Department of General and Thoracic Surgery, Bambino Gesù Children Hospital-Resarch Institute, 00152 Rome, Italy.

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http://dx.doi.org/10.5409/wjcp.v4.i2.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438439PMC
May 2015

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

Eur J Hum Genet 2015 Aug 18;23(8):1033-41. Epub 2015 Mar 18.

1] Department of Pediatrics, University of California San Francisco Benioff Children's Hospital, San Francisco, CA, USA [2] Department of Medical and Surgical Neonatology, Bambino Gesu' Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795107PMC
August 2015

Atypical Spitz tumors in patients younger than 18 years.

J Am Acad Dermatol 2015 Jan 25;72(1):37-46. Epub 2014 Oct 25.

Veneto Institute of Oncology Istituto Oncologico Veneto Istituto di Ricovero e Cura a Carattere Scientifico (IOV IRCCS), Padua, Italy.

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http://dx.doi.org/10.1016/j.jaad.2014.09.049DOI Listing
January 2015

A rare case of segmental neurofibromatosis with multiple blue-red pseudoatrophic plaques.

Cutis 2014 Sep;94(3):149-52

Ospedale Pediatrico Bambino Gesù, Piazza Sant'Onofrio 4, 00165, Roma, Italy.

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September 2014

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

Eur J Pediatr 2014 Oct 21;173(10):1391-4. Epub 2014 May 21.

Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu' Children's Hospital, IRCCS, Piazza S. Onofrio 4, Rome, 00165, Italy.

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http://link.springer.com/10.1007/s00431-014-2338-y
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http://dx.doi.org/10.1007/s00431-014-2338-yDOI Listing
October 2014

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

Peripheral medulloepithelioma: a rare tumor with a potential target therapy.

J Transl Med 2014 Feb 21;12:49. Epub 2014 Feb 21.

Department of Pediatric Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, Piazza Sant'Onofrio, 4 - 00165 Rome, Italy.

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http://dx.doi.org/10.1186/1479-5876-12-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941953PMC
February 2014

Malignant pheochromocytoma in a 16-year-old patient with neurofibromatosis type 1.

Pediatr Dev Pathol 2014 Mar-Apr;17(2):126-9. Epub 2014 Feb 20.

1   Department of Pathology, Children's Hospital Bambino Gesù, IRCCS Rome, Italy.

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http://dx.doi.org/10.2350/13-10-1397-CR.1DOI Listing
August 2014

Congenital Askin tumor with favorable outcome: case report and review of the literature.

J Pediatr Surg 2012 Jul;47(7):1440-4

General and Thoracic Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpedsurg.2012.02.028DOI Listing
July 2012

Distribution of cystinosin-LKG in human tissues.

Histochem Cell Biol 2012 Aug 29;138(2):351-63. Epub 2012 Apr 29.

Division of Nephrology, Department of Nephrology and Urology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://link.springer.com/content/pdf/10.1007/s00418-012-0958
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http://link.springer.com/10.1007/s00418-012-0958-8
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http://dx.doi.org/10.1007/s00418-012-0958-8DOI Listing
August 2012

Bladder augmentation using acellular collagen biomatrix: a pilot experience in exstrophic patients.

Pediatr Surg Int 2012 Apr 19;28(4):421-8. Epub 2012 Feb 19.

Division of Pediatric Urology, Department of Nephrology-Urology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00383-012-3063-0DOI Listing
April 2012

Recurrent metanephric stromal tumor in an infant.

Urology 2011 Dec 17;78(6):1411-3. Epub 2011 Jun 17.

Department of Hematology-Oncology, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.urology.2011.04.029DOI Listing
December 2011

Effects of botulinum toxin type a in the bladder wall of children with neurogenic bladder dysfunction: a comparison of histological features before and after injections.

J Urol 2011 Jun 27;185(6 Suppl):2552-7. Epub 2011 Apr 27.

Department of Nephro-Urology, Bambino Gesù Pediatric and Research Hospital, Piazza S. Onofrio 4, Rome, Italy.

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http://dx.doi.org/10.1016/j.juro.2011.01.019DOI Listing
June 2011

'Tell me about your pain': abdominal pain and a history of bullying.

BMJ Case Rep 2011 Mar 24;2011. Epub 2011 Mar 24.

Department of Paediatric Medicine, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1136/bcr.12.2010.3611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070372PMC
March 2011

Vesiculopustular eruption in a neonate with trisomy 21 syndrome as a clue of transient myeloproliferative disorders.

Cutis 2010 Jun;85(6):286-8

Department of Neonatology, Bambino Gesù Children's Hospital, Rome, Italy.

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June 2010

Slipped capital femoral epiphysis: an ultrastructural study before and after osteosynthesis.

Acta Orthop 2010 Jun;81(3):331-6

Orthopaedics and Traumatology Division, Institute of Scientific Research, Bambino Gesù Children's Hospital, Rome.

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http://dx.doi.org/10.3109/17453674.2010.483987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876835PMC
June 2010

Pediatric extra-renal rhabdoid tumors with unusual morphology: a diagnostic pitfall for small biopsies.

Pathol Res Pract 2009 24;205(7):451-7. Epub 2009 Feb 24.

Dipartimento di Scienze Chirurgiche e Oncologiche, Sezione Anatomia Patologica, Università di Padova, Padova, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S034403380900030
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http://dx.doi.org/10.1016/j.prp.2009.01.003DOI Listing
August 2009

Epithelioid osteosarcoma of the jaw.

Pediatr Blood Cancer 2009 Jul;52(7):877-9

Division of Oncology, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1002/pbc.21894DOI Listing
July 2009

Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease.

J Gastroenterol Hepatol 2008 Aug 6;23(8 Pt 2):e457-64. Epub 2007 Aug 6.

Molecular Medicine Unit, Chemistry Laboratory, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1111/j.1440-1746.2007.05070.xDOI Listing
August 2008

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia.

J Pediatr Surg 2007 Jul;42(7):E19-22

Laboratory of Neonatal Biology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00223468070029
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http://dx.doi.org/10.1016/j.jpedsurg.2007.04.030DOI Listing
July 2007

Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases.

Pediatr Radiol 2007 Apr 7;37(4):337-44. Epub 2007 Feb 7.

Department of Diagnostic Imaging, I.R.C.C.S. Bambino Gesù Pediatric Hospital, P.za S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00247-006-0402-0DOI Listing
April 2007

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

Neuromuscul Disord 2006 Oct 1;16(9-10):548-52. Epub 2006 Sep 1.

Unit of Molecular Medicine and Pathology, Dept. of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2006.07.005DOI Listing
October 2006

A child with painful legs.

Lancet 2005 Apr 16-22;365(9468):1438

Department of Paediatric Medicine, Bambino Gesù Children's Hospital National Institute of Health, Rome, Italy.

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http://dx.doi.org/10.1016/S0140-6736(05)66381-7DOI Listing
May 2005

Different pattern of matrix metalloproteinases expression in alveolar versus embryonal rhabdomyosarcoma.

J Pediatr Surg 2004 Nov;39(11):1673-9

Department of Pathology, Children's Hospital Bambino Gesu, Research Institute, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpedsurg.2004.07.014DOI Listing
November 2004

Unusual aspects of desmoplastic small round cell tumor.

Ultrastruct Pathol 2004 Mar-Apr;28(2):83-96

Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1080/01913120490430634DOI Listing
December 2004

Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.

Pathol Res Pract 2004 ;200(3):231-40

Dipartimento di Anatomia Patologia, Ospedale Pediatrico, Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1016/j.prp.2003.11.001DOI Listing
December 2004