Fernando Santos-Simarro

Fernando Santos-Simarro

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Fernando Santos-Simarro

Fernando Santos-Simarro

Publications by authors named "Fernando Santos-Simarro"

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31Publications

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Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.

Mol Genet Genomic Med 2019 04 19;7(4):e00568. Epub 2019 Feb 19.

La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/mgg3.568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465731PMC
April 2019

Mutations in PERP Cause Dominant and Recessive Keratoderma.

J Invest Dermatol 2019 Feb 12;139(2):380-390. Epub 2018 Oct 12.

Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; University Paris Descartes, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183266
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http://dx.doi.org/10.1016/j.jid.2018.08.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586468PMC
February 2019

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Rev Esp Cardiol (Engl Ed) 2018 Jul 14;71(7):545-552. Epub 2017 Nov 14.

Instituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Unidad de Genética Clínica, Hospital Universitario HM Montepríncipe, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2017.10.013DOI Listing
July 2018

Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain.

J Genet Couns 2018 06 25;27(3):732-743. Epub 2017 Sep 25.

Centre for Medical Education, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1007/s10897-017-0154-zDOI Listing
June 2018

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Hum Mutat 2017 11 25;38(11):1471-1476. Epub 2017 Jul 25.

Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.23292DOI Listing
November 2017

A new variant in is associated with glycogen storage disease type IXa.

Mol Genet Metab Rep 2017 Mar 12;10:52-55. Epub 2017 Jan 12.

Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1016/j.ymgmr.2017.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233919PMC
March 2017

[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].

An Pediatr (Barc) 2016 Aug 28;85(2):104-105. Epub 2016 Feb 28.

Genética Clínica, INGEMM, Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, España; Unidad 753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2016.01.011DOI Listing
August 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

Chondrodysplasia punctata associated with maternal Sjögren syndrome.

Am J Med Genet A 2014 Jun 25;164A(6):1606-10. Epub 2014 Mar 25.

Neonatology Department, Hospital Universitario La Paz, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36470DOI Listing
June 2014

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.

Clin Med Insights Pediatr 2012 28;6:41-9. Epub 2012 Jun 28.

Department of Pediatrics, Division of Nephrology, Hospital Universitario de Getafe, Madrid, Spain.

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http://dx.doi.org/10.2147/CBF.S23366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3620815PMC
May 2013