Patricia Blanco-Arias

Patricia Blanco-Arias

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Patricia Blanco-Arias

Patricia Blanco-Arias

Publications by authors named "Patricia Blanco-Arias"

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11Publications

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Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

Neuromuscul Disord 2017 Jul 17;27(7):667-672. Epub 2017 Jan 17.

Department of Neurology, Hospital Clínico, Santiago de Compostela, Spain; Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.nmd.2017.01.008DOI Listing
July 2017

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Appl Transl Genom 2015 Jun 26;5:33-6. Epub 2015 Jun 26.

Instituto de Investigación Sanitaria de Santiago-IDIS, Spain; Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica, Spain.

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http://dx.doi.org/10.1016/j.atg.2015.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745395PMC
June 2015

Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.

Muscle Nerve 2012 Dec;46(6):961-4

Division of Endocrinology, Metabolism and Nutrition, Hospital Universitario Clínico San Carlos, Madrid, Spain.

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http://dx.doi.org/10.1002/mus.23466DOI Listing
December 2012

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Neuromuscul Disord 2006 Aug 27;16(8):498-503. Epub 2006 Jun 27.

Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660600169
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http://dx.doi.org/10.1016/j.nmd.2006.05.011DOI Listing
August 2006

A comparative analysis of the pig, mouse, and human PCDHX genes.

Mamm Genome 2004 Apr;15(4):296-306

Human Molecular Genetics Group, Division of Cellular and Molecular Pathology, University of Cambridge, Department of Pathology, Tennis Court Road, Cambridge CB2 1QP, UK.

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http://dx.doi.org/10.1007/s00335-003-3034-9DOI Listing
April 2004

Protocadherin X ( PCDHX) and Y ( PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains.

Mamm Genome 2004 Jan;15(1):41-52

Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK.

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http://link.springer.com/10.1007/s00335-003-3028-7
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http://dx.doi.org/10.1007/s00335-003-3028-7DOI Listing
January 2004

The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon.

Mamm Genome 2002 Aug;13(8):463-8

Human Molecular Genetics Group, Division of Cellular and Molecular Pathology, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK.

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http://link.springer.com/10.1007/s00335-002-3010-9
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http://dx.doi.org/10.1007/s00335-002-3010-9DOI Listing
August 2002