Publications by authors named "Fabiana Lubieniecki"

37Publications

Lung destruction secondary to intrapulmonary migration of a ventriculoperitoneal shunt catheter: report of an unusual case and literature review.

Childs Nerv Syst 2020 Jun 9. Epub 2020 Jun 9.

Department of Pediatric Neurosurgery, Hospital de Pediatría S. A. M. I. C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s00381-020-04716-1DOI Listing
June 2020

Melanotic neuroectodermal tumor of infancy arising from the skull: report of an unusual case, review of the literature, and a diagnostic approach.

Childs Nerv Syst 2020 03 3;36(3):469-475. Epub 2020 Jan 3.

Neurosurgery Department, Pediatric Hospital "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s00381-019-04476-7DOI Listing
March 2020

Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.

Neuromuscul Disord 2020 01 7;30(1):54-58. Epub 2019 Nov 7.

Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, 5° andar, sala 5131, Cerqueira Cesar, 05403-900 São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.11.001DOI Listing
January 2020

Minimally disseminated disease and outcome in overt orbital retinoblastoma.

Pediatr Blood Cancer 2019 06 25;66(6):e27662. Epub 2019 Feb 25.

Scientific and Technical Research Council, CONICET, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/pbc.27662DOI Listing
June 2019

Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA.

Cell Mol Life Sci 2019 Apr 23;76(7):1397-1417. Epub 2019 Jan 23.

Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET)-Centro Universitario UNCuyo, 5500, Mendoza, Argentina.

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http://link.springer.com/10.1007/s00018-019-03008-5
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http://dx.doi.org/10.1007/s00018-019-03008-5DOI Listing
April 2019

Rasmussen syndrome: an atypical presentation in ten patients.

Epileptic Disord 2018 Dec;20(6):468-478

Department of Neurosurgery, Hospital de Pediatría "Prof Dr Juan P Garrahan", Buenos Aires, Argentina.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2018.1007DOI Listing
December 2018

Aberrant O-glycosylation modulates aggressiveness in neuroblastoma.

Oncotarget 2018 Sep 25;9(75):34176-34188. Epub 2018 Sep 25.

Molecular Oncology Laboratory, Quilmes National University, Bernal, Buenos Aires Province, Argentina.

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http://dx.doi.org/10.18632/oncotarget.26169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183345PMC
September 2018

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Muscle Nerve 2019 01 16;59(1):137-141. Epub 2018 Dec 16.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.26305DOI Listing
January 2019

[Cerebral hydatid disease: report of six pediatric cases].

Rev Chilena Infectol 2017 Jun;34(3):270-275

Servicio de Control Epidemiológico e Infectología, Hospital de Pediatría Profesor Dr. Juan P Garrahan, Chile.

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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.4067/S0716-10182017000300012DOI Listing
June 2017

Second Neoplasms in Children Following a Treatment for Acute Leukemia and/or Lymphoma: 29 Years of Experience in a Single Institution in Argentina.

J Pediatr Hematol Oncol 2017 11;39(8):e406-e412

*Hematology and Oncology Department †Immunology-Rheumatology Department ‡Genetic Department §Pathology Department ∥Endocrinology Department ¶Hematopoietic Stem Cell Transplantation Department, Hospital de Pediatría Prof. Dr Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1097/MPH.0000000000000971DOI Listing
November 2017

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

Genes Chromosomes Cancer 2016 09 23;55(9):677-87. Epub 2016 Jun 23.

Cytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/gcc.22369DOI Listing
September 2016

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Eur J Med Genet 2015 Oct 25;58(10):556-61. Epub 2015 Sep 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.009DOI Listing
October 2015

Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.

Mitochondrial DNA A DNA Mapp Seq Anal 2016 07 26;27(4):2864-7. Epub 2015 Jun 26.

a IHEM CCT-CONICET and National University of Cuyo , Mendoza , Argentina .

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http://www.tandfonline.com/doi/full/10.3109/19401736.2015.10
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http://dx.doi.org/10.3109/19401736.2015.1053132DOI Listing
July 2016

Intracranial gliofibroma: a case report and review of the literature.

Case Rep Pathol 2014 13;2014:165025. Epub 2014 Jul 13.

Department of Pathology, Garrahan Pediatrics Hospital, Combate de los Pozos 1881, C1245AAM Buenos Aires, Argentina.

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http://dx.doi.org/10.1155/2014/165025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122050PMC
August 2014

Type II focal cortical dysplasia: electroclinical study and surgical outcome in 31 pediatric patients.

Childs Nerv Syst 2013 Nov 7;29(11):2079-87. Epub 2013 Jul 7.

Neurology Unit-Epilepsy Group, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Combate de los Pozos 1881, CP 1245, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s00381-013-2165-xDOI Listing
November 2013

Inflammatory myofibroblastic tumor of the lung in children: anaplastic lymphoma kinase (ALK) expression and clinico-pathological correlation.

Pediatr Dev Pathol 2012 May-Jun;15(3):179-86. Epub 2012 Jan 26.

Department of Pathology, Hospital Nacional de Pediatría J. P Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.2350/11-10-1105-OA.1DOI Listing
September 2012

Detection of N-glycolyl GM3 ganglioside in neuroectodermal tumors by immunohistochemistry: an attractive vaccine target for aggressive pediatric cancer.

Clin Dev Immunol 2011 20;2011:245181. Epub 2011 Sep 20.

Departament of Pathology, Pediatric Hospital Prof. Dr. Juan P. Garrahan, and Laboratory of Molecular Oncology, Quilmes National University, C1245AAM Buenos Aires, Argentina.

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http://dx.doi.org/10.1155/2011/245181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177098PMC
January 2012

A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature.

J Neurooncol 2011 Aug 3;104(1):375-80. Epub 2010 Dec 3.

Cytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Combate de los Pozos 1881, 1245 Buenos Aires, Argentina.

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http://link.springer.com/content/pdf/10.1007/s11060-010-0478
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http://link.springer.com/10.1007/s11060-010-0478-0
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http://dx.doi.org/10.1007/s11060-010-0478-0DOI Listing
August 2011

Cytogenetic findings in a rare pediatric mixed glioneuronal tumor and review of the literature.

Childs Nerv Syst 2009 Nov 22;25(11):1485-90. Epub 2009 Apr 22.

Cytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s00381-009-0896-5DOI Listing
November 2009

New proteins configure a brain drug resistance map in tuberous sclerosis.

Pediatr Neurol 2006 Jan;34(1):20-4

Clinical Biochemistry Department, Facultad de Farmacia y Bioquimica, Universidad de Buenos Aires (UBA), Argentina.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.06.008DOI Listing
January 2006

Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy.

Pediatr Neurol 2004 Feb;30(2):102-6

Clinical Biochemistry Department, Facultad de Farmacia y Bioquimica, Universidad de Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/S0887-8994(03)00407-7DOI Listing
February 2004