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Items: 1 to 50 of 269

1.

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.

Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O.

Eur Respir J. 2019 Aug 22;54(2). pii: 1801965. doi: 10.1183/13993003.01965-2018. Print 2019 Aug.

PMID:
31151956
2.

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.

Diociaiuti A, Angioni A, Pisaneschi E, Margollicci M, Boldrini R, Alesi V, Novelli A, Zambruno G, El Hachem M.

Acta Derm Venereol. 2019 Jul 1;99(9):828-830. doi: 10.2340/00015555-3162. No abstract available.

3.

Tumor-infiltrating T cells and PD-L1 expression in childhood malignant extracranial germ-cell tumors.

Boldrini R, De Pasquale MD, Melaiu O, Chierici M, Jurman G, Benedetti MC, Salfi NC, Castellano A, Collini P, Furlanello C, Pistoia V, Cifaldi L, Terenziani M, Fruci D.

Oncoimmunology. 2018 Dec 13;8(2):e1542245. doi: 10.1080/2162402X.2018.1542245. eCollection 2019.

PMID:
30713803
4.

New species and new record of Thraulodes Ulmer, 1920 (Ephemeroptera: Leptophlebiidae: Atalophlebiinae) from Brazil.

Boldrini R, Dantas HATP, Lima LRC.

Zootaxa. 2018 Dec 4;4527(2):277-280. doi: 10.11646/zootaxa.4527.2.8.

PMID:
30651467
5.

Description of the nymph of Miroculis (Miroculis) eldorado Gama-Neto Hamada, 2014 (Leptophlebiidae: Ephemeroptera) from Roraima, northern Brazil.

Boldrini R, Lima LRC, Ottoni-Boldrini BMP.

Zootaxa. 2018 Aug 14;4459(1):197-200. doi: 10.11646/zootaxa.4459.1.12.

PMID:
30314141
6.

New species and new records of Coryphorus Peters, 1981 (Ephemeroptera: Coryphoridae) from Brazil.

Lima LRC, Nascimento SRS, Boldrini R.

Zootaxa. 2018 Aug 15;4459(2):395-400. doi: 10.11646/zootaxa.4459.2.12.

PMID:
30314117
7.

Malignant testicular germ cell tumors in children and adolescents: The AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) protocol.

Terenziani M, De Pasquale MD, Bisogno G, Biasoni D, Boldrini R, Collini P, Conte M, Dall'Igna P, Inserra A, Melchionda F, Siracusa F, Spreafico F, Barretta F, D'Angelo P.

Urol Oncol. 2018 Nov;36(11):502.e7-502.e13. doi: 10.1016/j.urolonc.2018.07.001. Epub 2018 Sep 21.

PMID:
30249520
8.

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

El Hachem M, Barresi S, Diociaiuti A, Boldrini R, Condorelli AG, Capoluongo E, Proto V, Scuvera G, Has C, Tartaglia M, Castiglia D.

Acta Derm Venereol. 2019 Feb 1;99(2):238-239. doi: 10.2340/00015555-3046. No abstract available.

9.

CHL1 gene acts as a tumor suppressor in human neuroblastoma.

Ognibene M, Pagnan G, Marimpietri D, Cangelosi D, Cilli M, Benedetti MC, Boldrini R, Garaventa A, Frassoni F, Eva A, Varesio L, Pistoia V, Pezzolo A.

Oncotarget. 2018 May 25;9(40):25903-25921. doi: 10.18632/oncotarget.25403. eCollection 2018 May 25.

10.

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.

Callea F, Giovannoni I, Francalanci P, Boldrini R, Faa G, Medicina D, Nobili V, Desmet VJ, Ishak K, Seyama K, Bellacchio E.

Orphanet J Rare Dis. 2018 May 16;13(1):79. doi: 10.1186/s13023-018-0821-7.

11.

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases.

Russo I, Di Paolo V, Gurnari C, Mastronuzzi A, Del Bufalo F, Di Paolo PL, Di Giannatale A, Boldrini R, Milano GM.

BMC Pediatr. 2018 May 15;18(1):166. doi: 10.1186/s12887-018-1128-5.

12.

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.

Diociaiuti A, Rosati E, Paglietti MG, Vacca P, Boldrini R, Pisaneschi E, Castiglia D, Novelli A, El Hachem M.

Acta Derm Venereol. 2018 Aug 29;98(8):803-804. doi: 10.2340/00015555-2957. No abstract available.

13.

Reply: 22 Cases of Breast Implant-Associated ALCL: Awareness and Outcome Tracking from the Italian Ministry of Health.

Campanale A, Boldrini R.

Plast Reconstr Surg. 2018 May;141(5):779e. doi: 10.1097/PRS.0000000000004278. No abstract available.

PMID:
29697640
14.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Radio FC, Di Meglio L, Agolini E, Bellacchio E, Rinelli M, Toscano P, Boldrini R, Novelli A, Di Meglio A, Dallapiccola B.

Mol Genet Genomic Med. 2018 May;6(3):446-451. doi: 10.1002/mgg3.376. Epub 2018 Mar 3.

15.

BIA-ALCL Incidence: The Variable to be Included in the Denominator.

Campanale A, Boldrini R.

Plast Reconstr Surg. 2018 Jan 17. doi: 10.1097/PRS.0000000000004278. [Epub ahead of print] No abstract available.

PMID:
29384816
16.

Evaluation of Endoglin (CD105) expression in pediatric rhabdomyosarcoma.

Di Paolo V, Russo I, Boldrini R, Ravà L, Pezzullo M, Benedetti MC, Galardi A, Colletti M, Rota R, Orlando D, Crocoli A, Peinado H, Milano GM, Di Giannatale A.

BMC Cancer. 2018 Jan 5;18(1):31. doi: 10.1186/s12885-017-3947-4.

17.

22 Cases of Breast Implant-Associated ALCL: Awareness and Outcome Tracking from the Italian Ministry of Health.

Campanale A, Boldrini R, Marletta M.

Plast Reconstr Surg. 2018 Jan;141(1):11e-19e. doi: 10.1097/PRS.0000000000003916.

PMID:
29280858
18.

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.

Callea F, Giovannoni I, Sari S, Guldal E, Dalgic B, Akyol G, Sogo T, Al-Hussaini A, Maggiore G, Bartuli A, Boldrini R, Francalanci P, Bellacchio E.

Int J Mol Sci. 2017 Dec 15;18(12). pii: E2717. doi: 10.3390/ijms18122717.

19.

<i>Corinnella</i> <i>lourii</i>, a rare new species of Baetidae (Ephemeroptera) from central Brazil.

Salles FF, Victoriano AS, Boldrini R, Cabette HRS.

Zootaxa. 2017 Oct 3;4329(2):183-188. doi: 10.11646/zootaxa.4329.2.5.

PMID:
29242491
20.

Pediatric Chronic Intestinal Failure in Italy: Report from the 2016 Survey on Behalf of Italian Society for Gastroenterology, Hepatology and Nutrition (SIGENP).

Diamanti A, Capriati T, Gandullia P, Di Leo G, Lezo A, Lacitignola L, Spagnuolo MI, Gatti S, D'Antiga L, Verlato G, Roggero P, Amarri S, Baldassarre ME, Cirillo F, Elia D, Boldrini R, Campanozzi A, Catassi C, Aloi M, Romano C, Candusso M, Cecchi N, Bellini T, Tyndall E, Fusaro F, Caldaro T, Alberti D, Gamba P, Lima M, Bagolan P, De Ville de Goyet J, Dall'Oglio L, Spada M, Grandi F.

Nutrients. 2017 Nov 5;9(11). pii: E1217. doi: 10.3390/nu9111217.

21.

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Diociaiuti A, Pisaneschi E, Zambruno G, Angioni A, Novelli A, Boldrini R, El Hachem M.

J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e110-e112. doi: 10.1111/jdv.14618. Epub 2017 Oct 27. No abstract available.

PMID:
28983987
22.

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

Carnevale C, Castiglia D, Diociaiuti A, Proto V, Giancristoforo S, Boldrini R, Zambruno G, El Hachem M.

Acta Derm Venereol. 2017 Nov 15;97(10):1249-1251. doi: 10.2340/00015555-2752. No abstract available.

23.

MYCN is an immunosuppressive oncogene dampening the expression of ligands for NK-cell-activating receptors in human high-risk neuroblastoma.

Brandetti E, Veneziani I, Melaiu O, Pezzolo A, Castellano A, Boldrini R, Ferretti E, Fruci D, Moretta L, Pistoia V, Locatelli F, Cifaldi L.

Oncoimmunology. 2017 Apr 20;6(6):e1316439. doi: 10.1080/2162402X.2017.1316439. eCollection 2017.

24.

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage.

Callea F, Giovannoni I, Sari S, Aksu AU, Esendagly G, Dalgic B, Boldrini R, Akyol G, Francalanci P, Bellacchio E.

Pathology. 2017 Aug;49(5):534-537. doi: 10.1016/j.pathol.2017.03.007. Epub 2017 Jun 30. No abstract available.

PMID:
28673429
25.

New distributional records and life stage description of <i>Caenis</i> species (Ephemeroptera: Caenidae) from Brazil.

Lima LRC, Boldrini R.

Zootaxa. 2017 Jun 11;4276(2):285-292. doi: 10.11646/zootaxa.4276.2.10.

PMID:
28610212
26.

Malignant ovarian germ cell tumors in pediatric patients: The AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) study.

Terenziani M, Bisogno G, Boldrini R, Cecchetto G, Conte M, Boschetti L, De Pasquale MD, Biasoni D, Inserra A, Siracusa F, Basso ME, De Leonardis F, Di Pinto D, Barretta F, Spreafico F, D'Angelo P.

Pediatr Blood Cancer. 2017 Nov;64(11). doi: 10.1002/pbc.26568. Epub 2017 Apr 27.

PMID:
28449306
27.

PD-L1 Is a Therapeutic Target of the Bromodomain Inhibitor JQ1 and, Combined with HLA Class I, a Promising Prognostic Biomarker in Neuroblastoma.

Melaiu O, Mina M, Chierici M, Boldrini R, Jurman G, Romania P, D'Alicandro V, Benedetti MC, Castellano A, Liu T, Furlanello C, Locatelli F, Fruci D.

Clin Cancer Res. 2017 Aug 1;23(15):4462-4472. doi: 10.1158/1078-0432.CCR-16-2601. Epub 2017 Mar 7.

28.

Global Adverse Event Reports of Breast Implant-Associated ALCL: An International Review of 40 Government Authority Databases.

Srinivasa DR, Miranda RN, Kaura A, Francis AM, Campanale A, Boldrini R, Alexander J, Deva AK, Gravina PR, Medeiros LJ, Nast K, Butler CE, Clemens MW.

Plast Reconstr Surg. 2017 May;139(5):1029-1039. doi: 10.1097/PRS.0000000000003233.

PMID:
28157770
29.

Pediatric adrenocortical neoplasms: immunohistochemical expression of p57 identifies loss of heterozygosity and abnormal imprinting of the 11p15.5.

Giovannoni I, Boldrini R, Benedetti MC, Inserra A, De Pasquale MD, Francalanci P.

Pediatr Res. 2017 Mar;81(3):468-472. doi: 10.1038/pr.2016.239. Epub 2016 Nov 14.

PMID:
27842055
30.

Intracerebral Glycine Administration Impairs Energy and Redox Homeostasis and Induces Glial Reactivity in Cerebral Cortex of Newborn Rats.

Moura AP, Parmeggiani B, Grings M, Alvorcem LM, Boldrini RM, Bumbel AP, Motta MM, Seminotti B, Wajner M, Leipnitz G.

Mol Neurobiol. 2016 Nov;53(9):5864-5875. doi: 10.1007/s12035-015-9493-7. Epub 2015 Oct 26.

PMID:
26497039
31.

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

Tasca G, Fattori F, Monforte M, Hedberg-Oldfors C, Sabatelli M, Udd B, Boldrini R, Bertini E, Ricci E, Oldfors A.

J Neurol. 2016 Oct;263(10):2133-5. doi: 10.1007/s00415-016-8268-z. Epub 2016 Aug 20. No abstract available.

PMID:
27544502
32.

Higher susceptibility of cerebral cortex and striatum to sulfite neurotoxicity in sulfite oxidase-deficient rats.

Grings M, Moura AP, Parmeggiani B, Motta MM, Boldrini RM, August PM, Matté C, Wyse AT, Wajner M, Leipnitz G.

Biochim Biophys Acta. 2016 Nov;1862(11):2063-2074. doi: 10.1016/j.bbadis.2016.08.007. Epub 2016 Aug 12.

33.

Anaplastic lymphoma kinase aberrations correlate with metastatic features in pediatric rhabdomyosarcoma.

Gasparini P, Casanova M, Villa R, Collini P, Alaggio R, Zin A, Bonvini P, Antonescu CR, Boldrini R, Caserini R, Moro M, Centonze G, Meazza C, Massimino M, Bergamaschi L, Luksch R, Chiaravalli S, Bisogno G, Zaffaroni N, Daidone MG, Sozzi G, Ferrari A.

Oncotarget. 2016 Sep 13;7(37):58903-58914. doi: 10.18632/oncotarget.10368.

34.

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

El Hachem M, Fortugno P, Palmeri A, Citterich MH, Diociaiuti A, Proto V, Boldrini R, Zambruno G, Castiglia D.

Acta Derm Venereol. 2016 Nov 2;96(7):954-958. doi: 10.2340/00015555-2439.

35.

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

Peca D, Boldrini R, Johannson J, Shieh JT, Citti A, Petrini S, Salerno T, Cazzato S, Testa R, Messina F, Onofri A, Cenacchi G, Westermark P, Ullmann N, Cogo P, Cutrera R, Danhaive O.

Eur J Hum Genet. 2016 May;24(5):780. doi: 10.1038/ejhg.2016.12. No abstract available.

36.

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

Salerno T, Peca D, Menchini L, Schiavino A, Boldrini R, Esposito F, Danhaive O, Cutrera R.

Ital J Pediatr. 2016 Feb 29;42:23. doi: 10.1186/s13052-016-0235-x.

37.

Characterization of the indoor particles and their sources in an Antarctic research station.

Pagel ÉC, Costa Reis N Jr, de Alvarez CE, Santos JM, Conti MM, Boldrini RS, Kerr AS.

Environ Monit Assess. 2016 Mar;188(3):167. doi: 10.1007/s10661-016-5172-z. Epub 2016 Feb 16.

PMID:
26884354
38.

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

Diociaiuti A, Castiglia D, Giancristoforo S, Guerra L, Proto V, Dotta A, Boldrini R, Zambruno G, El Hachem M.

Acta Derm Venereol. 2016 Aug 23;96(6):784-7. doi: 10.2340/00015555-2364.

39.

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

De Pasquale MD, Crocoli A, Conte M, Indolfi P, D'Angelo P, Boldrini R, Terenziani M, Inserra A.

Pediatr Blood Cancer. 2016 May;63(5):808-12. doi: 10.1002/pbc.25895. Epub 2016 Jan 14.

PMID:
26766550
40.

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

Diociaiuti A, El Hachem M, Pisaneschi E, Giancristoforo S, Genovese S, Sirleto P, Boldrini R, Angioni A.

Orphanet J Rare Dis. 2016 Jan 13;11:4. doi: 10.1186/s13023-016-0384-4.

41.

A waterborn zoonotic helminthiase in an Italian diver: a case report of a cutaneous Sparganum infection and a review of European cases.

Bracaglia G, Ranno S, Mancinelli L, Santoro M, Cerroni L, Massone C, Sangueza O, Bravo FG, Diociaiuti A, Nicastri E, Muraca M, El Hachem M, Boldrini R, Callea F, Putignani L.

Pathog Glob Health. 2015;109(8):383-6. doi: 10.1080/20477724.2015.1123901. Epub 2016 Jan 9.

42.

First record of the genus Lumahyphes Molineri, 2004 (Ephemeroptera: Leptohyphidae) from Brazil with description of a new species.

Boldrini R, Santos GC, Oliveira DR.

Zootaxa. 2015 Sep 7;4013(1):143-6. doi: 10.11646/zootaxa.4013.1.11.

PMID:
26623889
43.

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

Peca D, Cutrera R, Masotti A, Boldrini R, Danhaive O.

Biochem Soc Trans. 2015 Oct;43(5):913-9. doi: 10.1042/BST20150100. Review.

PMID:
26517903
44.

New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.

Piersigilli F, Peca D, Campi F, Corsello M, Landolfo F, Boldrini R, Danhaive O, Dotta A.

Pediatr Int. 2015 Oct;57(5):970-4. doi: 10.1111/ped.12673. Epub 2015 Aug 19.

PMID:
26508177
45.

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

Mina M, Boldrini R, Citti A, Romania P, D'Alicandro V, De Ioris M, Castellano A, Furlanello C, Locatelli F, Fruci D.

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

46.

The male imago of Paramaka incognita Domínguez, Grillet, Nieto, Molineri and Guerrero, 2014 (Ephemeroptera: Leptophlebiidae).

Boldrini R, Barroso PC.

Zootaxa. 2015 May 14;3957(2):231-4. doi: 10.11646/zootaxa.3957.2.7.

PMID:
26249069
47.

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

Tasca G, D'Amico A, Verardo M, Villani A, Siani P, De Brasi D, Bertini E, Boldrini R.

Neuromuscul Disord. 2015 Aug;25(8):672-3. doi: 10.1016/j.nmd.2015.05.004. Epub 2015 May 12. No abstract available.

PMID:
26077615
48.

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

Madafferi S, Catania VD, Accinni A, Boldrini R, Inserra A.

World J Clin Pediatr. 2015 May 8;4(2):30-4. doi: 10.5409/wjcp.v4.i2.30. eCollection 2015 May 8.

49.

Local control in metastatic neuroblastoma in children over 1 year of age.

De Ioris MA, Crocoli A, Contoli B, Garganese MC, Natali G, Tomà P, Jenkner A, Boldrini R, De Pasquale MD, Milano GM, Madafferi S, Castellano A, Locatelli F, Inserra A.

BMC Cancer. 2015 Feb 21;15:79. doi: 10.1186/s12885-015-1082-7.

50.

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

Peca D, Boldrini R, Johannson J, Shieh JT, Citti A, Petrini S, Salerno T, Cazzato S, Testa R, Messina F, Onofri A, Cenacchi G, Westermark P, Ullmann N, Cogo P, Cutrera R, Danhaive O.

Eur J Hum Genet. 2015 Aug;23(8):1033-41. doi: 10.1038/ejhg.2015.45. Epub 2015 Mar 18. Erratum in: Eur J Hum Genet. 2016 May;24(5):780. Ullman, Nicola [corrected to Ullmann, Nicola].

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