• 196 Citations
20072019
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Personal profile

Education/Academic qualification

Life Sciences & Medicine, Masters Degree, Universidad Nacional Autonoma de Mexico

Life Sciences & Medicine, UNIVERSITY OF EDINBURGH

Life Sciences & Medicine, Doctoral Degree, Autonomous University of Yucatan (UADY)

External positions

Fellow, GRAMPIAN UNIVERSITY HOSPITALS NHS TRUST

Fingerprint Dive into the research topics where Raul Eduardo Pina Aguilar is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Embryonic Structures Medicine & Life Sciences
Hope Medicine & Life Sciences
Iduronate Sulfatase Medicine & Life Sciences
Anhidrotic Ectodermal Dysplasia 1 Medicine & Life Sciences
Infertility Medicine & Life Sciences
Type C Niemann-Pick Disease Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2007 2019

3 Citations (Scopus)

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Piña-Aguilar, R. E., Simpson, S. A., Alshatti, A., Clarke, A., Craufurd, D., Dorkins, H., Doye, K., Lahiri, N., Lashwood, A., Lynch, C., Miller, C., Morton, S., O’Driscoll, M., Quarrell, O. W., Rae, D., Strong, M., Tomlinson, C., Turnpenny, P., Miedzybrodzka, Z. & UK HD Predictive Testing Consortium, Jul 2019, In : Genetics in Medicine. 21, p. 1639–1643 5 p.

Research output: Contribution to journalArticle

Preimplantation Diagnosis
Huntington Disease
Prenatal Diagnosis
United Kingdom
Neurodegenerative Diseases
1 Citation (Scopus)

Mutación de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplegia alternante de la infancia detectada por secuenciación masiva en paralelo

Translated title of the contribution: A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencingGalaz-Montoya, C. I., Alcaraz-Estrada, S., García-Montaño, L. A., Zenteno, J. C. & Piña-Aguilar, R. E., 2019, In : Boletin medico del Hospital Infantil de Mexico. 76, 1, p. 49-53 5 p.

Research output: Contribution to journalArticle

High-Throughput Nucleotide Sequencing
Movement Disorders
Mutation
Genes
Pediatrics

Cholestasis due to deficiency of 3b-Δ5-C27-hydroxysteroid dehydrogenase in a patient with altered bile acid synthesis

Translated title of the contribution: Colestasis por deficiencia de 3b-Δ5-C27-hidroxiesteroide deshidrogenasa en un paciente con alteración en la síntesis de ácidos biliaresAlmanza-Miranda, E., Piña-Aguilar, R. E., Ordoñez-Gutiérrez, E., Mora, M. T. G. L. & Peña-Vélez, R., 2018, In : Boletin medico del Hospital Infantil de Mexico. 75, 5, p. 313-318 6 p.

Research output: Contribution to journalArticle

Bile Acids and Salts
gamma-Glutamyltransferase
Hepatitis
Hydroxysteroid Dehydrogenases
Sclera

Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia

Piña-Aguilar, R., González-Ortega, C., Calull-Bago, A., Lanuza-López, M. C., Cancino-Villarreal, P., Gutiérrez-Gamiño, A. M. & Gutiérrez-Gutiérrez, A. M., 2018, In : Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 70, 4, p. 164-168 5 p.

Research output: Contribution to journalArticle

Open Access
Anhidrotic Ectodermal Dysplasia 1
Genetic Testing
Aneuploidy
Ovulation Induction
Mutation
66 Citations (Scopus)
6 Downloads (Pure)

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M-A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M-A., Antolik, C., Anyane-Yeboa, K., Atkin, J. F. & 129 others, Bartell, T., Bernstein, J. A., Beyer, E., Blumenthal, I., Bongers, E. M. H. F., Brilstra, E. H., Brown, C. W., Brüggenwirth, H. T., Callewaert, B., Chiang, C., Corning, K., Cox, H., Cuppen, E., Currall, B. B., Cushing, T., David, D., Deardorff, M. A., Dheedene, A., D'Hooghe, M., de Vries, B. B. A., Earl, D. L., Ferguson, H. L., Fisher, H., FitzPatrick, D. R., Gerrol, P., Giachino, D., Glessner, J. T., Gliem, T., Grady, M., Graham, B. H., Griffis, C., Gripp, K. W., Gropman, A. L., Hanson-Kahn, A., Harris, D. J., Hayden, M. A., Hill, R., Hochstenbach, R., Hoffman, J. D., Hopkin, R. J., Hubshman, M. W., Innes, A. M., Irons, M., Irving, M., Jacobsen, J. C., Janssens, S., Jewett, T., Johnson, J. P., Jongmans, M. C., Kahler, S. G., Koolen, D. A., Korzelius, J., Kroisel, P. M., Lacassie, Y., Lawless, W., Lemyre, E., Leppig, K., Levin, A. V., Li, H., Li, H., Liao, E. C., Lim, C., Lose, E. J., Lucente, D., Macera, M. J., Manavalan, P., Mandrile, G., Marcelis, C. L., Margolin, L., Mason, T., Masser-Frye, D., McClellan, M. W., Mendoza, C. J. Z., Menten, B., Middelkamp, S., Mikami, L. R., Moe, E., Mohammed, S., Mononen, T., Mortenson, M. E., Moya, G., Nieuwint, A. W., Ordulu, Z., Parkash, S., Pauker, S. P., Pereira, S., Perrin, D., Phelan, K., Pina Aguilar, R. E., Poddighe, P. J., Pregno, G., Raskin, S., Reis, L., Rhead, W., Rita, D., Renkens, I., Roelens, F., Ruliera, J., Rump, P., Schilit, S. L. P., Shaheen, R., Sparkes, R., Spiegel, E., Stevens, B., Stone, M. R., Tagoe, J., Thakuria, J. V., van Bon, B. W., van de Kamp, J., van Der Burgt, I., van Essen, T., van Ravenswaaij-Arts, C. M., van Roosmalen, M. J., Vergult, S., Volker-Touw, C. M. L., Warburton, D. P., Waterman, M. J., Wiley, S., Wilson, A., Yerena-de Vega, M. D. L. C. A., Zori, R. T., Levy, B., Brunner, H. G., de Leeuw, N., Kloosterman, W. P., Thorland, E. C., Morton, C. C., Gusella, J. F. & Talkowski, M. E., Jan 2017, In : Nature Genetics. 49, 1, p. 36-45 10 p.

Research output: Contribution to journalArticle

Open Access
File
Chromosome Aberrations
Cytogenetics
Karyotyping
Karyotype
Nucleotides