• 185 Citations
20072019
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Research Output 2007 2019

2019
2 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

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

Galaz-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
2018

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

Almanza-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
2017
65 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 othersBartell, 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
27 Citations (Scopus)

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Yokote, K., Chanprasert, S., Lee, L., Eirich, K., Takemoto, M., Watanabe, A., Koizumi, N., Lessel, D., Mori, T., Hisama, F. M., Ladd, P. D., Angle, B., Baris, H., Cefle, K., Palanduz, S., Ozturk, S., Chateau, A., Deguchi, K., Easwar, T. K. M., Federico, A. & 14 othersFox, A., Grebe, T. A., Hay, B., Nampoothiri, S., Seiter, K., Streeten, E., Pina Aguilar, R. E., Poke, G., Poot, M., Posmyk, R., Martin, G. M., Kubisch, C., Schindler, D. & Oshima, J., Jan 2017, In : Human Mutation. 38, 1, p. 7-15 9 p.

Research output: Contribution to journalArticle

Werner Syndrome
Registries
Japan
Mutation
Exonucleases
2016
6 Downloads (Pure)

A human reproductive approach to the study of infertility in chimpanzees: An experience at Leon's Zoological Park, Mexico

Piña-Aguilar, R. E., López-Saucedo, J., Ruiz-Galaz, L. I., Barroso-Padilla, J. D. J., Gallegos-Rivas, M. C., González-Ortega, C. & Gutiérrez-Gutiérrez, A. M., 2016, In : Veterinary research forum. 7, 3, p. 255-259 5 p.

Research output: Contribution to journalArticle

Open Access
File
Pan troglodytes
Mexico
Infertility
Hominidae
Spermatozoa
1 Citation (Scopus)

A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy

Pina Aguilar, R. E., Regalado-Hernández, M. Á., Moreno-García, J. D., Buentello-Volante, B., Chacón-Camacho, O. F., Gallegos-Rivas, M. C., Kazakova, E., Santillán-Hernández, Y. & Zenteno, J. C., 2016, In : Systems Biology in Reproductive Medicine. 62, 2, p. 146-151 6 p.

Research output: Contribution to journalArticle

Muscular Atrophy
Spermatogenesis
Androgen Receptors
Gynecomastia
Intracytoplasmic Sperm Injections
2 Citations (Scopus)

Birth after human chorionic gonadotropin-primed oocyte in vitro maturation and fertilization with testicular sperm in a normo-ovulatory patient

González-Ortega, C., Pina Aguilar, R. E., Cancino-Villareal, P. & Gutiérrez-Gutiérrez, A. M., 3 Nov 2016, In : Journal of Human Reproductive Sciences. 9, 3, p. 210-212 3 p.

Research output: Contribution to journalArticle

Open Access
In Vitro Oocyte Maturation Techniques
Chorionic Gonadotropin
Fertilization in Vitro
Spermatozoa
Sperm Retrieval

El Toro de Lidia Mexicano: Un ejemplo de patrimonio genético y ganadería sustentable

Piña-Aguilar, R., 1 Dec 2016, El Patrimonio su Importancia y Conservacion: Conociendo el Patrimonio. 1 ed. Campeche, Mexico: TECCIS A.C., p. 67-83 17 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Citations (Scopus)

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Chacón-Camacho, O. F., Sobreira, N., You, J., Pina Aguilar, R. E., Villegas-Ruiz, V. & Zenteno, J. C., 1 Jul 2016, In : American Journal of Medical Genetics. Part A. 170, 7, p. 1934-1937 4 p.

Research output: Contribution to journalLetter

Exome
Frameshift Mutation
Genes
Coloboma
Genetic Databases
2015
5 Citations (Scopus)

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly and normal intelligence

Chacon-Camacho, O. F., Villegas-Ruiz, V., Buentello-Volante, B., Pina-Aguilar, R. E., Peláez-González, H., Ramírez, M., González-Rodríguez, J. & Zenteno, J. C., Feb 2015, In : American Journal of Medical Genetics. Part A. 167, 2, p. 282-286 5 p.

Research output: Contribution to journalArticle

Dysostoses
Microcephaly
Intelligence
Cataract
Fingers
5 Citations (Scopus)
4 Downloads (Pure)

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

Santillán-Hernández, Y., Almanza-Miranda, E., Xin, W. W., Goss, K., Vera-Loaiza, A., Gorráez-De La Mora, M. T. & Pina Aguilar, R. E., 21 Jan 2015, In : World Journal of Gastroenterology. 21, 3, p. 1001-1008 8 p.

Research output: Contribution to journalArticle

Open Access
File
Sterol Esterase
Siblings
Hepatomegaly
Transaminases
Mutation
2014

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

Piña-Aguilar, R. E., Vera-Loaiza, A., Chacón-Camacho, O. F., Zenteno, J. C., Nuñez-Orozco, L. & Santillán-Hernández, Y., 2 Oct 2014, In : Case reports in neurological medicine. 2014, p. 1-8 8 p., 785890.

Research output: Contribution to journalArticle

Open Access
Type C Niemann-Pick Disease
Laughter
Cataplexy
Ataxia
Paralysis
8 Citations (Scopus)

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

Piña-Aguilar, R. E., Zaragoza-Arévalo, G. R., Rau, I., Gal, A., Alcántara-Ortigoza, M. A., López-Martínez, M. S. & Santillán-Hernández, Y., Mar 2013, In : European Journal of Medical Genetics. 56, 3, p. 159-162 4 p.

Research output: Contribution to journalArticle

Iduronate Sulfatase
Mucopolysaccharidosis II
X Chromosome Inactivation
Mutation
Genes
4 Downloads (Pure)

Superovulation, in vivo Embryo Recovery and Cryopreservation for Aoudad (Ammotragus Lervia) Females Using Osmotic Pumps and Vitrification: A Preliminary Experience and its Implications for Conservation

López-Saucedo, J., Ramón-Ugalde, J. P., de Barroso-Padilla, J. J., Gutiérrez-Gutiérrez, A. M., Fierro, R. & Pina Aguilar, R. E., Mar 2013, In : Tropical Conservation Science. 6, 1, p. 149-157 9 p.

Research output: Contribution to journalArticle

Open Access
File
vitrification
cryopreservation
embryo
pump
sheep

Variantes genéticas asociadas con infertilidad masculina en pacientes mexicanos

Piña-Aguilar, R. E., Chima-Galán, M. D. C., Yerena-de-vega, M. D. L. C. A., Regalado-Hernández, M. A., Sánchez-Guerrero, C., García-Ortiz, L., Santillán-Hernández, Y. & Moreno-García, J. D., May 2013, In : Ginecologia y obstetricia de Mexico. 81, 5, p. 245-258 14 p.

Research output: Contribution to journalArticle

Male Infertility
Guidelines
Chromosome Aberrations
Mutation
Genetic Counseling
2012
7 Citations (Scopus)

Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss

Pina Aguilar, R. E., Martínez-Garza, S. G., Kohls, G., Vargas-Maciel, M. A., Vázquez de Lara, L. G., González-Ortega, C., Cancino-Villarreal, P. & Gutiérrez-Gutiérrez, A. M., Jun 2012, In : Journal of Obstetrics and Gynaecology. 38, 6, p. 912-917 6 p.

Research output: Contribution to journalArticle

Pregnancy
Sequence Tagged Sites
Andrology
Y Chromosome
Multiplex Polymerase Chain Reaction
2011
Mitochondrial Diseases
Assisted Reproductive Techniques
Genetic Techniques
Spindle Apparatus
Primates
2009

Detección del virus del papiloma humano en pacientes sin coilocitosis pero con cambios nucleares en citologías cervicales

Capdeville-García, D., Martínez-Garza, S. G., Gutiérrez-Constante, S., Coronado-Pérez, H., Pina Aguilar, R. E. & Gutiérrez-Gutíerrez, A. M., Sep 2009, In : Gaceta Mexicana de Oncologia. 8, 5, p. 184-188 5 p.

Research output: Contribution to journalArticle

Papanicolaou Test
Colposcopy
DNA
Chromatin
Cytoplasm
31 Citations (Scopus)

Mining the Leishmania genome for novel antigens and vaccine candidates

Herrera-Najera, C., Piña-Aguilar, R., Xacur-Garcia, F., Ramirez-Sierra, M. J. & Dumonteil, E., Mar 2009, In : Proteomics. 9, 5, p. 1293-301 9 p.

Research output: Contribution to journalArticle

Leishmania
Epitopes
Vaccines
Genes
Genome
19 Citations (Scopus)

Revival of extinct species using nuclear transfer: hope for the mammoth, true for the Pyrenean ibex, but is it time for "conservation cloning"?

Pina Aguilar, R. E., Lopez-Saucedo, J., Sheffield, R., Ruiz-Galaz, L. I., Barroso-Padilla, J. D. J. & Gutiérrez-Gutiérrez, A., Sep 2009, In : Cloning and Stem Cells. 11, 3, p. 341-346 6 p.

Research output: Contribution to journalArticle

Hope
Organism Cloning
Goats
Nuclear Transfer Techniques
Reproductive Isolation
2008
1 Citation (Scopus)

Bringing together clinical embryology and basic reproduction around human cloning

Pina Aguilar, R. E., Dec 2008, In : Human Reproduction. 23, 12, p. 2875-6 2 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Efecto de la aplicación de la hormona de crecimiento recombinante (rbST) sobre la respuesta superovulatoria y la viabilidad embrionaria en ovejas de pelo

Navarrete-Sierra, L. F., Cruz-Tamayo, A. A., González-Parra, E. I., Pina Aguilar, R. E., Sangines-García, J. R., Toledo-López, V. & Ramón-Ugalde, J. P., Mar 2008, In : Revista Cientifica de la Facultad de Ciencias Veterinarias de la Universidad del Zulia. 18, 2, p. 175-179 5 p.

Research output: Contribution to journalArticle

somatotropin
Growth Hormone
hairs
ewes
embryo (animal)
4 Citations (Scopus)

Embryo recovery from the oviduct in superovulated ewes: A method to improve MOET systems

Ramon-Ugalde, J. P., Folch, J., Cocero, M. J., Pina Aguilar, R. E. & Alabart, J. L., 2008, In : Czech Journal of Animal Science. 53, 4, p. 145-151 7 p.

Research output: Contribution to journalArticle

oviducts
ewes
viability
estrus
methodology
2007

Genómica funcional en embriones y ovocitos humanos individuales

Pina Aguilar, R. E., 29 Mar 2007, In : Gaceta Medica de Mexico. 143, 1, p. 89-91 3 p.

Research output: Contribution to journalArticle

Genomics
Oocytes
Embryonic Structures
Blastocyst
Fluorescence In Situ Hybridization