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Germline multigene panel testing in acute and chronic pancreatitis
Ramsey, Mitchell L., Heald, Brandie, Gokun, Yevgeniya, Baker, Josie, Groce, J. Royce, Han, Samuel, Hart, Phil A., Krishna, Somashekar G., Lara, Luis F., Lee, Peter J., Papachristou, Georgios I., Pearlman, Rachel, Poll, Sarah, Roberts, Maegan E., Stanich, Peter P.
Published in PloS one (22.08.2024)
Published in PloS one (22.08.2024)
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A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis
Nunziato, Marcella, Balato, Anna, Ruocco, Anna, D’Argenio, Valeria, Di Caprio, Roberta, Balato, Nicola, Ayala, Fabio, Salvatore, Francesco
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Integration of germline multigene panel testing into breast and gynecologic oncology clinics
Tejada, Mariella, Hou, June YiJuan, Crew, Katherine D., Accordino, Melissa Kate, Kalinsky, Kevin, Hershman, Dawn L., Tergas, Ana Isabel, St. Clair, Caryn, Wright, Jason Dennis, Trivedi, Meghna S.
Published in Journal of clinical oncology (01.10.2021)
Published in Journal of clinical oncology (01.10.2021)
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Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing
Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Fernández-Aceñero, María Jesús, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, García-Barberán, Vanesa, Sanz, Julián, Pérez-Segura, Pedro, de Voer, Richarda M., Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Garre, Pilar
Published in Scientific reports (08.07.2019)
Published in Scientific reports (08.07.2019)
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Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer
Hirotsu, Yosuke, Nakagomi, Hiroshi, Sakamoto, Ikuko, Amemiya, Kenji, Oyama, Toshio, Mochizuki, Hitoshi, Omata, Masao
Published in Molecular genetics & genomic medicine (01.09.2015)
Published in Molecular genetics & genomic medicine (01.09.2015)
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Yield and clinical significance of genetic screening in elite and amateur athletes
Limongelli, Giuseppe, Nunziato, Marcella, D'Argenio, Valeria, Esposito, Maria V, Monda, Emanuele, Mazzaccara, Cristina, Caiazza, Martina, D'Aponte, Antonello, D'Andrea, Antonello, Bossone, Eduardo, Maggio, Federica Di, Buono, Pasqualina, Pica, Paolo W, Capua, Luca De, Penco, Maria, Romano, Silvio, Paolo, Fernando Di, Pelliccia, Antonio, Frisso, Giulia, Salvatore, Francesco
Published in European journal of preventive cardiology (23.08.2021)
Published in European journal of preventive cardiology (23.08.2021)
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The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects
Pilenzi, Lucrezia, Anaclerio, Federico, Dell’Elice, Anastasia, Minelli, Maria, Giansante, Roberta, Cicirelli, Michela, Tinari, Nicola, Grassadonia, Antonino, Pantalone, Andrea, Grossi, Simona, Canale, Nicole, Bruno, Annalisa, Calabrese, Giuseppe, Ballerini, Patrizia, Stuppia, Liborio, Antonucci, Ivana
Published in Cancers (25.06.2024)
Published in Cancers (25.06.2024)
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Genotype–phenotype associations among panel-based TP53+ subjects
Rana, Huma Q., Clifford, Jacob, Hoang, Lily, LaDuca, Holly, Black, Mary Helen, Li, Shuwei, McGoldrick, Kelly, Speare, Virginia, Dolinsky, Jill S., Gau, Chia-Ling, Garber, Judy E.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Clinico-Electrophysiological and genetic overlaps and magnetic resonance imaging findings in Charcot–Marie– Tooth disease: A pilot study from Western India
Khadilkar, SatishVasant, Patil, NahushD, Kadam, NikhilDhananjay, Mansukhani, KhushnumaA, Patel, BhagyadhanA
Published in Annals of the Indian Academy of Neurology (01.10.2017)
Published in Annals of the Indian Academy of Neurology (01.10.2017)
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Germline Genetic Features of Young Individuals With Colorectal Cancer
Stoffel, Elena M., Koeppe, Erika, Everett, Jessica, Ulintz, Peter, Kiel, Mark, Osborne, Jenae, Williams, Linford, Hanson, Kristen, Gruber, Stephen B., Rozek, Laura S.
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2018)
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Improving performance of multigene panels for genomic analysis of cancer predisposition
Shirts, Brian H., Casadei, Silvia, Jacobson, Angela L., Lee, Ming K., Gulsuner, Suleyman, Bennett, Robin L., Miller, Margaret, Hall, Sarah A., Hampel, Heather, Hisama, Fuki M., Naylor, Lorraine V., Goetsch, Cathleen, Leppig, Kathleen, Tait, Jonathan F., Scroggins, Sheena M., Turner, Emily H., Livingston, Robert, Salipante, Stephen J., King, Mary-Claire, Walsh, Tom, Pritchard, Colin C.
Published in Genetics in medicine (01.10.2016)
Published in Genetics in medicine (01.10.2016)
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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals
Shao, Di, Cheng, Shaomin, Guo, Fengming, Zhu, Changbin, Yuan, Yuying, Hu, Kunling, Wang, Zhe, Meng, Xuan, Jin, Xin, Xiong, Yun, Chai, Xianghua, Li, Hong, Zhang, Yu, Zhang, Hongyun, Liu, Jihong, Ye, Mingzhi
Published in Cancer science (01.02.2020)
Published in Cancer science (01.02.2020)
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Genotype–phenotype associations among panel-based TP53+ subjects
Rana, Huma Q., Clifford, Jacob, Hoang, Lily, LaDuca, Holly, Black, Mary Helen, Li, Shuwei, McGoldrick, Kelly, Speare, Virginia, Dolinsky, Jill S., Gau, Chia-Ling, Garber, Judy E.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease
Youn, Jinyoung, Lee, Chung, Oh, Eungseok, Park, Jinse, Kim, Ji Sun, Kim, Hee-Tae, Cho, Jin Whan, Park, Woong-Yang, Jang, Wooyoung, Ki, Chang-Seok
Published in Neurobiology of aging (01.03.2019)
Published in Neurobiology of aging (01.03.2019)
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Prevalence of Germline Mutations in Polyposis and Colorectal Cancer–Associated Genes in Patients With Multiple Colorectal Polyps
Stanich, Peter P., Pearlman, Rachel, Hinton, Alice, Gutierrez, Stephanie, LaDuca, Holly, Hampel, Heather, Jasperson, Kory
Published in Clinical gastroenterology and hepatology (01.09.2019)
Published in Clinical gastroenterology and hepatology (01.09.2019)
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Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults
Karpen, Saul J, Kamath, Binita M, Alexander, John J, Ichetovkin, Ilia, Rosenthal, Philip, Sokol, Ronald J, Dunn, Shelley, Thompson, Richard J, Heubi, James E
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
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Germline mutations and age at onset of lung adenocarcinoma
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.
Published in Cancer (01.08.2021)
Published in Cancer (01.08.2021)
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Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing
Rana, Huma Q, Gelman, Rebecca, LaDuca, Holly, McFarland, Rachel, Dalton, Emily, Thompson, Jennifer, Speare, Virginia, Dolinsky, Jill S, Chao, Elizabeth C, Garber, Judy E
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
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Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
Trinchillo, Assunta, Valente, Valeria, Esposito, Marcello, Migliaccio, Miriana, Iovino, Aniello, Picciocchi, Michele, Cuomo, Nunzia, Caccavale, Carmela, Nocerino, Cristofaro, De Rosa, Laura, Salvatore, Elena, Pierantoni, Giovanna Maria, Menchise, Valeria, Paladino, Simona, Criscuolo, Chiara
Published in Neurological sciences (01.09.2024)
Published in Neurological sciences (01.09.2024)
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