Search Results - "Cervantes, Aleck"

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1 by Chung, Doug D, Frausto, Ricardo F, Cervantes, Aleck E, Gee, Katherine M, Zakharevich, Marina, Hanser, Evelyn M, Stone, Edwin M, Heon, Elise, Aldave, Anthony J

“…To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1…”
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Germline mutations and age at onset of lung adenocarcinoma by Reckamp, Karen L., Behrendt, Carolyn E., Slavin, Thomas P., Gray, Stacy W., Castillo, Danielle K., Koczywas, Marianna, Cristea, Mihaela C., Babski, Kirsten M., Stearns, Donna, Marcum, Catherine A., Rodriguez, Yenni P., Hass, Amie J., Vecchio, Mary M., Mora, Pamela, Cervantes, Aleck E., Sand, Sharon R., Mejia, Rosa M., Tsou, Terrence C., Salgia, Ravi, Weitzel, Jeffrey N.

“…Background To identify additional at‐risk groups for lung cancer screening, which targets persons with a long history of smoking and thereby misses younger or…”
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P091: Variants at variance: An assessment of discordant classifications and phenotypes among TP53 variants from the international LiFT UP study by Levine, Alison Schwartz, Nehoray, Bita, Cahill, Sophie, Cervantes, Aleck, Frone, Megan, Amos, Christopher, Gruber, Stephen, Garber, Judy

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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America by Herzog, Josef S., Chavarri-Guerra, Yanin, Castillo, Danielle, Abugattas, Julio, Villarreal-Garza, Cynthia, Sand, Sharon, Clague-Dehart, Jessica, Alvarez-Gómez, Rosa M., Wegman-Ostrosky, Talia, Mohar, Alejandro, Mora, Pamela, Del Toro-Valero, Azucena, Daneri-Navarro, Adrian, Rodriguez, Yenni, Cruz-Correa, Marcia, Ashton-Prolla, Patricia, Alemar, Bárbara, Mejia, Rosa, Gallardo, Lenny, Shaw, Robin, Yang, Kai, Cervantes, Aleck, Tsang, Kevin, Nehoray, Bita, Barrera Saldana, Hugo, Neuhausen, Susan, Weitzel, Jeffrey N.

“…The prevalence and contribution of BRCA1 / 2 ( BRCA ) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims…”
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Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function by Zakharevich, Marina, Kattan, Jaffer M, Chen, Judy L, Lin, Benjamin R, Cervantes, Aleck E, Chung, Doug D, Frausto, Ricardo F, Aldave, Anthony J

“…To investigate the functional role that the ( ) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal…”
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Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI by Kattan, Jaffer M, Serna-Ojeda, Juan Carlos, Sharma, Anushree, Kim, Eung K, Ramirez-Miranda, Arturo, Cruz-Aguilar, Marisa, Cervantes, Aleck E, Frausto, Ricardo F, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O, Aldave, Anthony J

“…PURPOSE:To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be…”
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Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy by Cervantes, Aleck E, Gee, Katherine M, Whiting, Martha F, Frausto, Ricardo F, Aldave, Anthony J

“…To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a…”
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Questioning a Li-Fraumeni Syndrome diagnosis: Characterization of a commonly observed germline TP53 variant, p.Arg156His by Nehoray, Bita, Schwartz, Alison, Hyman, Sophie, Stokes, Samantha, Cervantes, Aleck, Amos, Christopher, Gruber, Stephen B., Garber, Judy Ellen

“…10612 Background: Germline pathogenic variants (PV) in the TP53 gene are associated with Li-Fraumeni syndrome (LFS). Increased use of multi-gene panel testing…”
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Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status by Castillo, Danielle, Yuan, Tze-An, Nehoray, Bita, Cervantes, Aleck, Tsang, Kevin K, Yang, Kai, Sand, Sharon R, Mokhnatkin, Janet, Herzog, Josef, Slavin, Thomas P, Hyman, Sophie, Schwartz, Alison, Ebert, Benjamin L, Amos, Christopher I, Garber, Judy E, Weitzel, Jeffrey N

“…Though germline TP53 pathogenic/likely pathogenic variants (PV) are associated with Li-Fraumeni syndrome, many detected by multigene panels represent aberrant…”
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Clinical conundrums: Developing a strategy for discerning TP53-associated chip and coherent clinical care by Weitzel, Jeffrey N., Garber, Judy Ellen, Castillo, Danielle, Sand, Sharon, Mejia, Rosa, Cervantes, Aleck, Stokes, Samantha, Mokhnatkin, Janet, Tsang, Kar Wing Kevin, Wang, Jinhui, Wu, Xiwei, Herzog, Josef, Nehoray, Bita, Slavin, Thomas Paul

“…Abstract only 1514 Background: Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS). However, approximately 20% of commercial laboratory…”
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Germline mutations and onset of lung adenocarcinoma in smokers and nonsmokers by Reckamp, Karen L., Slavin, Thomas Paul, Gray, Stacy W., Behrendt, Carolyn E., Castillo, Danielle, Koczywas, Marianna, Cristea, Mihaela C., Babski, Kirsten, Stearns, Donna, Marcum, Catherine A, Rodriguez, Yeny, Hass, Amie, Vecchio, Mary, Mora Alferez, Analí Pamela, Cervantes, Aleck, Sand, Sharon, Mach, Stephanie L, Tsou, Terrence, Salgia, Ravi, Weitzel, Jeffrey N.

“…Abstract only 1518 Background: Eligibility for lung cancer screening is based largely on pack-years of smoking, missing many cases. To propose additional…”
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Confirmation of the OVOL2 Promoter Mutation c.-307TC in Posterior Polymorphous Corneal Dystrophy 1 by Chung, Doug D, Frausto, Ricardo F, Cervantes, Aleck E, Gee, Katherine M, Zakharevich, Marina, Hanser, Evelyn M, Stone, Edwin M, Heon, Elise, Aldave, Anthony J

“…Purpose To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals…”
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Cross‐sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment by Nehoray, Bita, Slavin, Thomas P., Sun, Can‐Lan, Hurley, Karen, King, Elisabeth, Tsang, Kevin K., Cervantes, Aleck, Mokhnatkin, Janet V., Sand, Sharon, Mejia, Rosa, Reb, Anne, Samimi, Goli, Gray, Stacy, Blazer, Kathleen R., Weitzel, Jeffrey N.

“…Next‐generation tumor tissue sequencing techniques may result in the detection of putative germline pathogenic variants (PVs), raising the possibility that…”
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Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer by Chávarri-Guerra, Yanin, Marcum, Catherine A., Hendricks, Carolyn B., Wilbur, Deborah, Cescon, Terrence, Hake, Christopher, Abugattas, Julio, Rodriguez, Yenni, Villarreal-Garza, Cynthia, Yang, Kai, Cervantes, Aleck, Sand, Sharon, Castillo, Danielle, Herzog, Joseph, Mokhnatkin, Janet, Sedrak, Mina S., Soto-Perez-de-Celis, Enrique, Weitzel, Jeffrey N.

“…Women with triple negative breast cancer (TNBC) have a high prevalence of BRCA1 mutations, and current clinical guidelines recommend genetic testing for…”
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Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy by Cervantes, Aleck E., Gee, Katherine M., Whiting, Martha F., Frausto, Ricardo F., Aldave, Anthony J.

“…Purpose: To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a…”
Get full text