WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña‐Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
Published in Human mutation (01.01.2017)
Published in Human mutation (01.01.2017)
Get full text
Journal Article
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome
Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
Get full text
Journal Article
Natural-cycle in vitro fertilization (IVF) combined with in vitro maturation in infertile patients with polycystic ovarian syndrome (PCOS) requiring IVF
González-Ortega, Claudia, Piña-Aguilar, Raul E., Cancino-Villarreal, Patricia, Pérez-Peña, Efraín, Gutiérrez-Gutiérrez, Antonio M.
Published in Taiwanese journal of obstetrics & gynecology (01.03.2019)
Published in Taiwanese journal of obstetrics & gynecology (01.03.2019)
Get full text
Journal Article
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Dong, Zirui, Yan, Junhao, Xu, Fengping, Yuan, Jianying, Jiang, Hui, Wang, Huilin, Chen, Haixiao, Zhang, Lei, Ye, Lingfei, Xu, Jinjin, Shi, Yuhua, Yang, Zhenjun, Cao, Ye, Chen, Lingyun, Li, Qiaoling, Zhao, Xia, Li, Jiguang, Chen, Ao, Zhang, Wenwei, Wong, Hoi Gin, Qin, Yingying, Zhao, Han, Chen, Yuan, Li, Pei, Ma, Tao, Wang, Wen-Jing, Kwok, Yvonne K., Jiang, Yuan, Pursley, Amber N., Chung, Jacqueline P.W., Hong, Yan, Kristiansen, Karsten, Yang, Huanming, Piña-Aguilar, Raul E., Leung, Tak Yeung, Cheung, Sau Wai, Morton, Cynthia C., Choy, Kwong Wai, Chen, Zi-Jiang
Published in American journal of human genetics (05.12.2019)
Published in American journal of human genetics (05.12.2019)
Get full text
Journal Article
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence
Chacon-Camacho, Oscar F., Villegas-Ruiz, Vanessa, Buentello-Volante, Beatriz, Piña-Aguilar, Raul E., Peláez-González, Hugo, Ramírez, Magdalena, González-Rodríguez, Johanna, Zenteno, Juan Carlos
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
Get full text
Journal Article
Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case
Chacon-Camacho, Oscar F., Lopez-Martinez, Monica S., Vázquez, Johanna, Nava-Castañeda, Angel, Martin-Biasotti, Fernando, Piña-Aguilar, Raul E., Iñiguez-Soto, Marisol, Acosta-García, Job, Zenteno, Juan C.
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
Get full text
Journal Article
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
David, Dezső, Freixo, João P., Fino, Joana, Carvalho, Inês, Marques, Mariana, Cardoso, Manuela, Piña-Aguilar, Raul E., Morton, Cynthia C.
Published in Human genetics (01.04.2020)
Published in Human genetics (01.04.2020)
Get full text
Journal Article
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
Piña-Aguilar, Raul E., Simpson, Sheila A., Alshatti, Abdulrahman, Clarke, Angus, Craufurd, David, Dorkins, Huw, Doye, Karen, Lahiri, Nayana, Lashwood, Alison, Lynch, Colleen, Miller, Claire, Morton, Sally, O’Driscoll, Mary, Quarrell, Oliver W., Rae, Daniela, Strong, Mark, Tomlinson, Charlotte, Turnpenny, Peter, Miedzybrodzka, Zosia
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
Get full text
Journal Article
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management
Snyder, Emma A., San Roman, Adrianna K., Piña-Aguilar, Raul E., Steeves, Marcie A., McNamara, Erin A., Souter, Irene, Hayes, Frances J., Levitsky, Lynne L., Lin, Angela E.
Published in European journal of medical genetics (01.03.2021)
Published in European journal of medical genetics (01.03.2021)
Get full text
Journal Article
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment
Lanuza-López, María C, Martínez-Garza, Sandra G, Solórzano-Vázquez, Jesús F, Paz-Cervantes, Daniela, González-Ortega, Claudia, Maldonado-Rosas, Israel, Villegas-Moreno, Gerardo, Villar-Muñoz, Lina G, Arroyo-Méndez, Francisco A, Gutiérrez-Gutiérrez, Antonio M, Piña-Aguilar, Raul E
Published in Gynecological endocrinology (01.09.2020)
Published in Gynecological endocrinology (01.09.2020)
Get full text
Journal Article
Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss
Piña-Aguilar, Raul E., Martínez-Garza, Sandra G., Kohls, Graciela, Vargas-Maciel, Marco A., Vázquez de Lara, Luis G., González-Ortega, Claudia, Cancino-Villarreal, Patricia, Gutiérrez-Gutiérrez, Antonio M.
Published in The journal of obstetrics and gynaecology research (01.06.2012)
Published in The journal of obstetrics and gynaecology research (01.06.2012)
Get full text
Journal Article
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
Yuritzi Santillán-Hernández Enory Almanza-Miranda Winnie W Xin Kendrick Goss Aurea Vera-Loaiza María T Gorráez-de la Mora Raul E Pi?a-Aguilar
Published in World journal of gastroenterology : WJG (21.01.2015)
Published in World journal of gastroenterology : WJG (21.01.2015)
Get full text
Journal Article
Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease
Nuñez-Orozco, Lilia, Zenteno, J. C., Chacon-Camacho, O. F., Vera-Loaiza, Aurea, Piña-Aguilar, Raul E., Santillán-Hernández, Yuritzi
Published in Case reports in neurological medicine (01.01.2014)
Published in Case reports in neurological medicine (01.01.2014)
Get full text
Journal Article
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing
Galaz-Montoya, Carolina I, Alcaraz-Estrada, Sofia, García-Montaño, Leopoldo A, Zenteno, Juan C, Piña-Aguilar, Raul E
Published in Boletin medico del Hospital Infantil de Mexico (01.01.2019)
Published in Boletin medico del Hospital Infantil de Mexico (01.01.2019)
Get more information
Journal Article
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, Raul E, Zaragoza-Arévalo, Gerardo R, Rau, Isabella, Gal, Andreas, Alcántara-Ortigoza, Miguel A, López-Martínez, Mónica S, Santillán-Hernández, Yuritzi
Published in European journal of medical genetics (01.03.2013)
Published in European journal of medical genetics (01.03.2013)
Get full text
Journal Article
P169: Considerations of genetic testing in autism spectrum disorder: Lessons learned from 10 years of experience in Mexico
Garza-Mayen, Gilda, Diaz, Carlos, Romo-Pardo, Beatriz, Piña-Aguilar, Raul E., Ramirez, Eva, Mayen-Molina, Dora, Arenas, Gabriela, Carrizosa, Nancy, López, Alejandro Olmos, Rivera, Gabriela, Juaristi-Manrique, Carlos, Garza-Morales, Saul
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
Get full text
Journal Article
Revival of extinct species using nuclear transfer: hope for the mammoth, true for the Pyrenean ibex, but is it time for "conservation cloning"?
Piña-Aguilar, Raul E, Lopez-Saucedo, Janet, Sheffield, Richard, Ruiz-Galaz, Lilia I, Barroso-Padilla, Jose de J, Gutiérrez-Gutiérrez, Antonio
Published in Cloning and stem cells (01.09.2009)
Published in Cloning and stem cells (01.09.2009)
Get more information
Journal Article