Encarna Guillén-Navarro

Encarna Guillén-Navarro

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Encarna Guillén-Navarro

Encarna Guillén-Navarro

Publications by authors named "Encarna Guillén-Navarro"

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56Publications

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[Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study].

An Pediatr (Barc) 2019 Sep 2. Epub 2019 Sep 2.

Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), Instituto Murciano de Investigación Biosanitaria (IMIB)-Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.07.006DOI Listing
September 2019

[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].

An Pediatr (Barc) 2019 May 27. Epub 2019 May 27.

Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.03.010DOI Listing
May 2019

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

Pediatr Res 2018 01 20;83(1-1):119-127. Epub 2017 Sep 20.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

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http://dx.doi.org/10.1038/pr.2017.201DOI Listing
January 2018

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
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http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

Neurobiol Dis 2015 Nov 15;83:44-53. Epub 2015 Aug 15.

CIMUS Biomedical Research Institute, University of Santiago de Compostela-IDIS, 15782 Santiago de Compostela, Spain; Department of Medicine, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.08.006DOI Listing
November 2015

Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies.

Am J Med Genet A 2015 Apr 5;167A(4):786-90. Epub 2015 Feb 5.

Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain; Instituto Murciano de Investigación Biosanitaria-Arrixaca (IMIB-Arrixaca); Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de, Salud Carlos III (ISCIII), Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36949DOI Listing
April 2015

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

Am J Med Genet A 2015 Apr 18;167A(4):902-6. Epub 2015 Feb 18.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36811DOI Listing
April 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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Am J Med Genet A 2014 May 29;164A(5):1136-42. Epub 2014 Jan 29.

Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain; Cátedra de Genética Médica, Universidad Católica de San Antonio (UCAM), Murcia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36409DOI Listing
May 2014

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

Genomics 2014 Apr 4;103(4):288-91. Epub 2014 Mar 4.

Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Cátedra de Genética Médica, Universidad Católica de San Antonio (UCAM), Murcia, Spain.

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http://dx.doi.org/10.1016/j.ygeno.2014.02.008DOI Listing
April 2014

[Clinical practice guideline for the management of Hunter syndrome. Hunter España working group].

Med Clin (Barc) 2013 Nov 21;141(10):453.e1-13. Epub 2013 Sep 21.

Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España; Grupo Español Hunter , España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2013.07.010DOI Listing
November 2013

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Orphanet J Rare Dis 2013 Oct 20;8:170. Epub 2013 Oct 20.

Centro Regional de Hemodonación Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Universidad de Murcia, Ronda de Garay S/N, 30003 Murcia, Spain.

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http://dx.doi.org/10.1186/1750-1172-8-170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016514PMC
October 2013

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.

Am J Med Genet A 2013 Sep 25;161A(9):2369-75. Epub 2013 Jul 25.

Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36103DOI Listing
September 2013

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

Am J Med Genet A 2013 Aug 21;161A(8):2030-5. Epub 2013 Jun 21.

Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36007DOI Listing
August 2013

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

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

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

Gene 2012 Apr 9;497(2):292-7. Epub 2012 Feb 9.

Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1016/j.gene.2012.01.088DOI Listing
April 2012

Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis.

Childs Nerv Syst 2011 Dec 13;27(12):2035-9. Epub 2011 Oct 13.

Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, 30120 El Palmar Murcia, Spain.

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http://dx.doi.org/10.1007/s00381-011-1606-7DOI Listing
December 2011

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

Pediatr Rheumatol Online J 2011 Sep 13;9(1):27. Epub 2011 Sep 13.

Department of Pediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1186/1546-0096-9-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184066PMC
September 2011

Craniosynostosis in Kabuki syndrome.

J Neurosurg Pediatr 2010 Aug;6(2):198-201

Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, Murcia, Spain.

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http://dx.doi.org/10.3171/2010.5.PEDS09286DOI Listing
August 2010

Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.

Childs Nerv Syst 2010 Jan 10;26(1):13-8. Epub 2009 Sep 10.

Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, El Palmar, E-30120, Murcia, Spain.

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http://dx.doi.org/10.1007/s00381-009-0972-xDOI Listing
January 2010

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

Am J Med Genet A 2009 Nov;149A(11):2513-21

Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.33055DOI Listing
November 2009

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

Hum Mol Genet 2008 Dec 5;17(23):3761-6. Epub 2008 Sep 5.

Developmental Biology Division, Victor ChangCardiac Research Institute, Darlinghurst, Sydney, NSW, Australia

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http://dx.doi.org/10.1093/hmg/ddn272DOI Listing
December 2008

Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I.

J Neurosurg 2008 Oct;109(4):746-50

Regional Service of Neurosurgery, Unit of Medical Genetics, Virgen de la Arrixaca University Hospital, El Palmar, Spain.

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http://dx.doi.org/10.3171/JNS/2008/109/10/0746DOI Listing
October 2008

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect.

Am J Med Genet A 2008 May;146A(9):1190-4

Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, El Palmar, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.32187DOI Listing
May 2008

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects.

Prenat Diagn 2006 Jun;26(6):577-80

Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1002/pd.1468DOI Listing
June 2006

Positional skull deformities in children: skull deformation without synostosis.

Childs Nerv Syst 2006 Apr 20;22(4):368-74. Epub 2005 Oct 20.

Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain.

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http://dx.doi.org/10.1007/s00381-005-1233-2DOI Listing
April 2006

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

Am J Med Genet 2002 Jun;110(2):153-7

Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/ajmg.10421DOI Listing
June 2002