Publications by authors named "Begona Ezquieta"

18Publications

Recommendations for the elaboration of diagnostic genetic reports in the clinical setting.

Med Clin (Barc) 2019 10 5;153(7):293-297. Epub 2019 Aug 5.

Servicio de Bioquímica y Genética Molecular, CDB, Hospital Clínic, Barcelona, España.

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http://dx.doi.org/10.1016/j.medcli.2019.06.002DOI Listing
October 2019

[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

An Pediatr (Barc) 2017 Aug 1;87(2):116.e1-116.e10. Epub 2017 Feb 1.

Hospital Clínico Universitario Virgen Arrixaca, Murcia, España.

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http://dx.doi.org/10.1016/j.anpedi.2016.12.002DOI Listing
August 2017

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Med Clin (Barc) 2015 Jan 4;144(2):67-72. Epub 2014 Sep 4.

Centro de Investigación Biomédica en Red en enfermedades raras (CIBERER); Laboratorio Diagnóstico Molecular, Servicio de Bioquímica, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2014.06.009DOI Listing
January 2015

LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

Rev Esp Cardiol (Engl Ed) 2013 May 11;66(5):350-6. Epub 2013 Jan 11.

Laboratorio de Genética Molecular, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2012.09.015DOI Listing
May 2013

Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency.

BMJ Case Rep 2013 Jul 22;2013. Epub 2013 Jul 22.

Department of Paediatric Endocrine, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Sabadell, Institut Universitari Parc Taulí-UAB, Universitat Autònoma de Barcelona, Campus d'Excelència Internacional, Sabadell, Spain.

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http://dx.doi.org/10.1136/bcr-2013-010251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736265PMC
July 2013

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Rev Esp Cardiol (Engl Ed) 2012 May 31;65(5):447-55. Epub 2012 Mar 31.

Laboratorio de Diagnóstico Molecular, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1016/j.recesp.2011.12.016DOI Listing
May 2012

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Eur J Pediatr 2011 Aug 2;170(8):1069-74. Epub 2011 Mar 2.

Pediatrics Department, Hospital Virgen de la Salud, Toledo, Spain.

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http://dx.doi.org/10.1007/s00431-011-1418-5DOI Listing
August 2011

Myeloproliferative disorder in Noonan syndrome.

J Pediatr Hematol Oncol 2011 Jan;33(1):e43-5

Department of Pediatric Oncology and Hematology, Hospital Universitario Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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https://insights.ovid.com/crossref?an=00043426-201101000-000
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http://dx.doi.org/10.1097/MPH.0b013e3181e7571eDOI Listing
January 2011

An XX male with an intratubular undifferentiated germ cell neoplasia.

Fertil Steril 2008 Nov 13;90(5):2005.e3-5. Epub 2008 Aug 13.

Pediatrics Department, Pediatric Endocrinology Unit, Hospital Ramón y Cajal, Madrid, Spain.

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http://dx.doi.org/10.1016/j.fertnstert.2008.07.001DOI Listing
November 2008

Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?

Fertil Steril 2007 Nov 4;88(5):1437.e5-11. Epub 2007 May 4.

Hospital General Universitario Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1016/j.fertnstert.2007.01.030DOI Listing
November 2007

[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening].

Med Clin (Barc) 2005 Oct;125(13):493-5

Servicio de Bioquímica, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1157/13080213DOI Listing
October 2005

SHOX intragenic microsatellite analysis in patients with short stature.

J Pediatr Endocrinol Metab 2002 Feb;15(2):139-48

Servicio de Bioquímica, Hospital La Paz, Madrid, Spain.

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http://dx.doi.org/10.1515/jpem.2002.15.2.139DOI Listing
February 2002