Medicina Xenómica
GMX - USC
Beatriz
Quintáns Castro
Publicacións nas que colabora con Beatriz Quintáns Castro (24)
2020
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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
Cerebellum, Vol. 19, Núm. 4, pp. 501-509
2017
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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
American Journal of Human Genetics, Vol. 101, Núm. 1, pp. 87-103
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
2016
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Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico
Journal of the Neurological Sciences, Vol. 362, pp. 321-325
2015
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Nature Genetics, Vol. 47, Núm. 6, pp. 579-581
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No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, Núm. 1, pp. 54-65
2014
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Medical genomics: The intricate path from genetic variant identification to clinical interpretation
Applied and Translational Genomics, Vol. 3, Núm. 3, pp. 60-67
2012
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
Brain, Vol. 135, Núm. 5, pp. 1423-1435
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Actualización en la base genética de las distonías
Revista española de trastornos del movimiento, Vol. 4, Núm. 4, pp. 22-32
2011
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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262
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sesoramiento genético en Neurología: un problema complejo que necesita regulación
Neurologia, Vol. 26, Núm. 3, pp. 129-136
2009
2005
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SNaPshot typing of mitochondrial DNA coding region variants.
Methods in molecular biology (Clifton, N.J.), Vol. 297, pp. 197-208
2004
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Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis
Gene, Vol. 329, Núm. 1-2, pp. 17-25
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Microgeographic substructure of NW Iberian Y chromosome STR haplotypes
International Congress Series, Vol. 1261, Núm. C, pp. 296-298
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Typing mtDNA SNPs of forensic and population interest with snapshot
International Congress Series, Vol. 1261, Núm. C, pp. 419-421
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Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing
Forensic Science International, Vol. 140, Núm. 2-3, pp. 251-257
2003
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Microgeographic patterns of highly informative Y-chromosome haplotypes (using biallelic markers and STRs) in Galicia (NW Spain): Forensic and anthropological implications
International Congress Series, Vol. 1239, Núm. C, pp. 61-66
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Patrones microgeográficos de haplotipos de cromosoma Y en Galicia: implicaciones forenses y antropológicas
Ciencia forense: Revista aragonesa de medicina legal, Núm. 5, pp. 363-368
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Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4
Forensic Science International, Vol. 131, Núm. 2-3, pp. 220-224