Publications by authors named "Feliciano J Ramos"

42Publications

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Clin Genet 2020 Oct 3. Epub 2020 Oct 3.

Children's Hospital of Philadelphia, Division of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1111/cge.13851DOI Listing
October 2020

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Am J Med Genet A 2020 07 31;182(7):1690-1696. Epub 2020 May 31.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61611DOI Listing
July 2020

Quantifying the economic impact of caregiving for Duchenne muscular dystrophy (DMD) in Spain.

Eur J Health Econ 2020 Sep 12;21(7):1015-1023. Epub 2020 May 12.

Facultad de Ciencias de la Salud, Grado en Farmacia, Universidad San Jorge, Campus Universitario de Villanueva de Gállego Zaragoza, Autovía A-23 Zaragoza-Huesca Km. 299. 50.830 Villanueva de Gállego, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s10198-020-01197-6DOI Listing
September 2020

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms21031042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038094PMC
February 2020

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Clin Genet 2019 06 29;95(6):726-731. Epub 2019 Apr 29.

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.

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http://doi.wiley.com/10.1111/cge.13504
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http://dx.doi.org/10.1111/cge.13504DOI Listing
June 2019

Involving the European National Human Genetics Societies.

Eur J Hum Genet 2017 12;25(s2):S39-S42

Universidad de Zaragoza, Dpto. Pediatria, Fac. Medicina, c/ Domingo Miral s/n, 50009 Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2017.152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763260PMC
December 2017

A view on clinical genetics and genomics in Spain: of challenges and opportunities.

Mol Genet Genomic Med 2016 Jul 18;4(4):376-91. Epub 2016 Jul 18.

Neurometabolic Diseases LaboratoryInstitute of NeuropathologyIDIBELLBarcelonaSpain; Center for Biomedical Research on Rare Diseases CIBERER U759BarcelonaSpain; Catalan Institution of Research and Advanced Studies (ICREA)BarcelonaSpain.

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http://dx.doi.org/10.1002/mgg3.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947857PMC
July 2016

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

J Bone Miner Res 2016 Apr 24;31(4):874-81. Epub 2016 Jan 24.

Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1002/jbmr.2782DOI Listing
April 2016

Clinical utility gene card for: Cornelia de Lange syndrome.

Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592075PMC
October 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

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

Mol Biol Rep 2012 Apr 28;39(4):4777-85. Epub 2011 Sep 28.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s11033-011-1270-8DOI Listing
April 2012

New ocular findings in two sisters with Yunis-Varón syndrome and literature review.

Eur J Med Genet 2011 Jan-Feb;54(1):76-81. Epub 2010 Oct 14.

Servicio de Genética, División de Pediatría, Nuevo Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Hospital-Escuela, and Instituto de Genética Humana Dr. Enrique Corona-Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100010
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http://dx.doi.org/10.1016/j.ejmg.2010.09.013DOI Listing
June 2011

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
July 2010

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

J Inherit Metab Dis 2010 Aug 8;33(4):405-10. Epub 2010 Jun 8.

Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/ Domingo Miral s/n, 50009, Zaragoza, Spain.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9097
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http://link.springer.com/10.1007/s10545-010-9097-3
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http://dx.doi.org/10.1007/s10545-010-9097-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903694PMC
August 2010

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.

Hum Mutat 2009 Mar;30(3):454-62

Laboratori de Recerca Translacional, Institut Català d'Oncologia-Institut d'Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.20933DOI Listing
March 2009

Molecular genetics of HMG-CoA lyase deficiency.

Mol Genet Metab 2007 Nov 9;92(3):198-209. Epub 2007 Aug 9.

Laboratory of Clinical Genetics and Functional Genomics, University of Zaragoza Medical School, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.020DOI Listing
November 2007

A further case of opsismodysplasia with hydrocephalus.

Eur J Med Genet 2006 Jan-Feb;49(1):93-100

Dpto. de Pediatría, Serv. Neonatología y Genética, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Zaragoza, C/ Domingo Miral s/n, Zaragoza 50009, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.002DOI Listing
April 2006

Autoimmune thyroiditis after bone marrow transplantation in a boy with Wiskott-Aldrich syndrome.

J Pediatr Hematol Oncol 2002 Dec;24(9):772-6

Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza c/Domingo Miral s/n 50009 Zaragoza, Spain.

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http://dx.doi.org/10.1097/00043426-200212000-00020DOI Listing
December 2002