Publications by authors named "Isabel Llano-Rivas"

14Publications

Prenatal and foetal autopsy findings in glutaric aciduria type II.

Birth Defects Res 2020 Nov 22;112(19):1738-1749. Epub 2020 Sep 22.

Molecular (epi)genetic lab, Bioaraba Research Health Institute, Araba University Hospital, C/Jose Atxotegi s/n, Vitoria-Gasteiz, Alava, Spain.

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http://dx.doi.org/10.1002/bdr2.1805DOI Listing
November 2020

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.

BMC Med Genomics 2018 Dec 27;11(1):124. Epub 2018 Dec 27.

Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.

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http://dx.doi.org/10.1186/s12920-018-0441-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307281PMC
December 2018

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Kidney Int 2018 08 22;94(2):363-371. Epub 2018 May 22.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, Red de Investigación Renal (REDINREN), Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.02.027DOI Listing
August 2018

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

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Am J Med Genet A 2015 Sep 21;167A(9):2034-41. Epub 2015 Apr 21.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37117DOI Listing
September 2015

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.

Pediatr Dermatol 2012 Nov-Dec;29(6):768-70. Epub 2011 Oct 13.

Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1111/j.1525-1470.2011.01575.xDOI Listing
September 2013

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Am J Med Genet A 2011 May 11;155A(5):1140-6. Epub 2011 Apr 11.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33880DOI Listing
May 2011

[CHARGE syndrome].

Arch Argent Pediatr 2010 Feb;108(1):e9-e12

Unidad de Genética, Departamento de Pediatría, Hospital Universitario Central de Asturias.

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http://dx.doi.org/10.1590/S0325-00752010000100016DOI Listing
February 2010