Publications by authors named "Maria García-Hoyos"

24Publications

Steroids for familial acute necrotizing encephalopathy: A future investment?

Clin Neurol Neurosurg 2018 11 11;174:134-136. Epub 2018 Sep 11.

Department of Pediatric Neurology, Hospital Universitario 12 de Octubre, Avenida de Córdoba s/n, 28041, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467183037
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http://dx.doi.org/10.1016/j.clineuro.2018.09.014DOI Listing
November 2018

Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology.

Prenat Diagn 2015 Feb 26;35(2):200-2. Epub 2014 Oct 26.

Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.

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http://dx.doi.org/10.1002/pd.4502DOI Listing
February 2015

A PTG variant contributes to a milder phenotype in Lafora disease.

PLoS One 2011 30;6(6):e21294. Epub 2011 Jun 30.

Laboratorio de Neurología-Unidad de Epilepsia, Servicio de Neurología, Instituto Investigación Sanitaria Fundación Jiménez Díaz, and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://digital.csic.es/bitstream/10261/37651/1/Plos%20One%20
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http://dx.plos.org/10.1371/journal.pone.0021294
Publisher Site
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0021294PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127956PMC
December 2011

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.

J Assist Reprod Genet 2011 Jul 4;28(7):621-6. Epub 2011 May 4.

Genetics Deparment, Health Research Institute of Fundación Jiménez Díaz Hospital (IIS-FJD), Avd. Reyes Católicos 2, 28040, Madrid, Spain.

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http://dx.doi.org/10.1007/s10815-011-9569-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3162051PMC
July 2011

[Holt-Oram syndrome: study of 7 cases].

Med Clin (Barc) 2010 Nov 17;135(14):653-7. Epub 2010 Jun 17.

Servicio de Genética, Fundación Jiménez Díaz, Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2010.04.013DOI Listing
November 2010

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

Hum Reprod 2006 Apr 16;21(4):958-66. Epub 2005 Dec 16.

Human Genetics, Fundacion Jimenez Diaz, Avda Reyes Católicos 2, 28040, Madrid, Spain.

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http://dx.doi.org/10.1093/humrep/dei406DOI Listing
April 2006

Evaluation of SFRP1 as a candidate for human retinal dystrophies.

Mol Vis 2004 Jun 28;10:426-31. Epub 2004 Jun 28.

Department of Genetics, Fundación Jimenez Diaz, Madrid, Spain.

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June 2004