Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Counseling and NF1[original query] |
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| Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatric neurology 2013 Jun 48 (6): 447-53. Ko Jung Min, Sohn Young Bae, Jeong Seon Yong, Kim Hyon-Ju, Messiaen Ludwine |
| Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 0 23 (4): 517-21. Laczma?ska Izabela, Szczepaniak Ma?gorzata, Jakubiak Aleksandra, Stembalska Agniesz |
| High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Human mutation 2015 Jul . Rojnueangnit Kitiwan, Xie Jing, Gomes Alicia, Sharp Angela, Callens Tom, Chen Yunjia, Liu Ying, Cochran Meagan, Abbott Mary-Alice, Atkin Joan, Babovic-Vuksanovic Dusica, Barnett Christopher P, Crenshaw Melissa, Bartholomew Dennis W, Basel Lina, Bellus Gary, Ben-Shachar Shay, Bialer Martin G, Bick David, Blumberg Bruce, Cortes Fanny, David Karen L, Destree Anne, Duat-Rodriguez Anna, Earl Dawn, Escobar Luis, Eswara Marthanda, Ezquieta Begona, Frayling Ian M, Frydman Moshe, Gardner Kathy, Gripp Karen W, Hernández-Chico Concepcion, Heyrman Kurt, Ibrahim Jennifer, Janssens Sandra, Keena Beth A, Llano-Rivas Isabel, Leppig Kathy, McDonald Marie, Misra Vinod K, Mulbury Jennifer, Narayanan Vinodh, Orenstein Naama, Galvin-Parton Patricia, Pedro Helio, Pivnick Eniko K, Powell Cynthia M, Randolph Linda, Raskin Salmo, Rosell Jordi, Rubin Karol, Seashore Margretta, Schaaf Christian P, Scheuerle Angela, Schultz Meredith, Schorry Elizabeth, Schnur Rhonda, Siqveland Elizabeth, Tkachuk Amanda, Tonsgard James, Upadhyaya Meena, Verma Ishwar C, Wallace Stephanie, Williams Charles, Zackai Elaine, Zonana Jonathan, Lazaro Conxi, Claes Kathleen, Korf Bruce, Martin Yolanda, Legius Eric, Messiaen Ludwi |
| [Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 480-483. Peng Chunyan, Ma Shi, Tang Xianglan, Yang Jiy |
| Impact of Patient Age on Molecular Alterations of Left-Sided Colorectal Tumors. The oncologist 2018 7 24 (3): 319-326. Puccini Alberto, Lenz Heinz-Josef, Marshall John L, Arguello David, Raghavan Derek, Korn W Michael, Weinberg Benjamin A, Poorman Kelsey, Heeke Arielle L, Philip Philip A, Shields Anthony F, Goldberg Richard M, Salem Mohamed |
| Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American journal of human genetics 2018 1 102 (1): 69-87. Koczkowska Magdalena, Chen Yunjia, Callens Tom, Gomes Alicia, Sharp Angela, Johnson Sherrell, Hsiao Meng-Chang, Chen Zhenbin, Balasubramanian Meena, Barnett Christopher P, Becker Troy A, Ben-Shachar Shay, Bertola Debora R, Blakeley Jaishri O, Burkitt-Wright Emma M M, Callaway Alison, Crenshaw Melissa, Cunha Karin S, Cunningham Mitch, D'Agostino Maria D, Dahan Karin, De Luca Alessandro, Destrée Anne, Dhamija Radhika, Eoli Marica, Evans D Gareth R, Galvin-Parton Patricia, George-Abraham Jaya K, Gripp Karen W, Guevara-Campos Jose, Hanchard Neil A, Hernández-Chico Concepcion, Immken LaDonna, Janssens Sandra, Jones Kristi J, Keena Beth A, Kochhar Aaina, Liebelt Jan, Martir-Negron Arelis, Mahoney Maurice J, Maystadt Isabelle, McDougall Carey, McEntagart Meriel, Mendelsohn Nancy, Miller David T, Mortier Geert, Morton Jenny, Pappas John, Plotkin Scott R, Pond Dinel, Rosenbaum Kenneth, Rubin Karol, Russell Laura, Rutledge Lane S, Saletti Veronica, Schonberg Rhonda, Schreiber Allison, Seidel Meredith, Siqveland Elizabeth, Stockton David W, Trevisson Eva, Ullrich Nicole J, Upadhyaya Meena, van Minkelen Rick, Verhelst Helene, Wallace Margaret R, Yap Yoon-Sim, Zackai Elaine, Zonana Jonathan, Zurcher Vickie, Claes Kathleen, Martin Yolanda, Korf Bruce R, Legius Eric, Messiaen Ludwine |
| Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients. Orphanet journal of rare diseases 2019 9 14 (1): 221. Zhu Guanghui, Zheng Yu, Liu Yaoxi, Yan An, Hu Zhengmao, Yang Yongjia, Xiang Shiting, Li Liping, Chen Weijian, Peng Yu, Zhong Nanbert, Mei Hai |
| Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants. Pediatric blood & cancer 2019 11 67 (2): e28047. Wilson Carmen L, Wang Zhaoming, Liu Qi, Ehrhardt Matthew J, Mostafavi Roya, Easton John, Mulder Heather, Hedges Dale J, Wang Shuoguo, Rusch Michael, Edmonson Michael, Levy Shawn, Lanctot Jennifer Q, Currie Kelsey, Lear Matthew, Patel Aman, Sapkota Yadav, Brooke Russell J, Moon Wonjong, Chang Ti-Cheng, Chen Wenan, Kesserwan Chimene A, Wu Gang, Nichols Kim E, Hudson Melissa M, Zhang Jinghui, Robison Leslie L, Yasui Yuta |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human mutation 2019 10 41 (1): 299-315. Koczkowska Magdalena, Callens Tom, Chen Yunjia, Gomes Alicia, Hicks Alesha D, Sharp Angela, Johns Eric, Uhas Kim Armfield, Armstrong Linlea, Bosanko Katherine Armstrong, Babovic-Vuksanovic Dusica, Baker Laura, Basel Donald G, Bengala Mario, Bennett James T, Chambers Chelsea, Clarkson Lola K, Clementi Maurizio, Cortés Fanny M, Cunningham Mitch, D'Agostino M Daniela, Delatycki Martin B, Digilio Maria C, Dosa Laura, Esposito Silvia, Fox Stephanie, Freckmann Mary-Louise, Fauth Christine, Giugliano Teresa, Giustini Sandra, Goetsch Allison, Goldberg Yael, Greenwood Robert S, Griffis Cristin, Gripp Karen W, Gupta Punita, Haan Eric, Hachen Rachel K, Haygarth Tamara L, Hernández-Chico Concepción, Hodge Katelyn, Hopkin Robert J, Hudgins Louanne, Janssens Sandra, Keller Kory, Kelly-Mancuso Geraldine, Kochhar Aaina, Korf Bruce R, Lewis Andrea M, Liebelt Jan, Lichty Angie, Listernick Robert H, Lyons Michael J, Maystadt Isabelle, Martinez Ojeda Mayra, McDougall Carey, McGregor Lesley K, Melis Daniela, Mendelsohn Nancy, Nowaczyk Malgorzata J M, Ortenberg June, Panzer Karin, Pappas John G, Pierpont Mary Ella, Piluso Giulio, Pinna Valentina, Pivnick Eniko K, Pond Dinel A, Powell Cynthia M, Rogers Caleb, Ruhrman Shahar Noa, Rutledge S Lane, Saletti Veronica, Sandaradura Sarah A, Santoro Claudia, Schatz Ulrich A, Schreiber Allison, Scott Daryl A, Sellars Elizabeth A, Sheffer Ruth, Siqveland Elizabeth, Slopis John M, Smith Rosemarie, Spalice Alberto, Stockton David W, Streff Haley, Theos Amy, Tomlinson Gail E, Tran Grace, Trapane Pamela L, Trevisson Eva, Ullrich Nicole J, Van den Ende Jenneke, Schrier Vergano Samantha A, Wallace Stephanie E, Wangler Michael F, Weaver David D, Yohay Kaleb H, Zackai Elaine, Zonana Jonathan, Zurcher Vickie, Claes Kathleen B M, Eoli Marica, Martin Yolanda, Wimmer Katharina, De Luca Alessandro, Legius Eric, Messiaen Ludwine |
| Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. Human genetics 2020 7 140 (2): 321-331. Horiuchi Yasue, Matsubayashi Hiroyuki, Kiyozumi Yoshimi, Nishimura Seiichiro, Higashigawa Satomi, Kado Nobuhiro, Nagashima Takeshi, Mizuguchi Maki, Ohnami Sumiko, Arai Makoto, Urakami Kenichi, Kusuhara Masatoshi, Yamaguchi K |
| Germline cancer predisposition variants and pediatric glioma: a population-based study in California. Neuro-oncology 2020 Jan . Muskens Ivo S, de Smith Adam J, Zhang Chenan, Hansen Helen M, Morimoto Libby, Metayer Catherine, Ma Xiaomei, Walsh Kyle M, Wiemels Joseph |
| Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 2021 7 5 (2): . Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Li |
| Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. JCO precision oncology 2021 5 . Kim Jung, Light Nicholas, Subasri Vallijah, Young Erin L, Wegman-Ostrosky Talia, Barkauskas Donald A, Hall David, Lupo Philip J, Patidar Rajesh, Maese Luke D, Jones Kristine, Wang Mingyi, Tavtigian Sean V, Wu Dongjing, Shlien Adam, Telfer Frank, Goldenberg Anna, Skapek Stephen X, Wei Jun S, Wen Xinyu, Catchpoole Daniel, Hawkins Douglas S, Schiffman Joshua D, Khan Javed, Malkin David, Stewart Douglas |
| Multiplatform Genomic Profiling and Immunohistochemistry Identify Prognostic and Predictive Signatures in Malignant Peripheral Nerve Sheath Tumors (MPNSTs). International journal of radiation oncology, biology, physics 2021 Nov 111 (3S): e256-e257. Vasudevan H, Lucas C H, Chen W C, Magill S, Braunstein S E, Reddy A, Perry A, Horvai A E, Jacques L, McCormick F, Pekmezci M, Raleigh |
| A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1. American journal of translational research 2022 8 14 (7): 5139-5145. He Qi, Jiang Jingjing, Yang Jiao, Zeng Junjie, Zhang Huan, Zhang Zhengzho |
| Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing. Annals of oncology : official journal of the European Society for Medical Oncology 2022 1 33 (4): 426-433. Terraf P, Pareja F, Brown D N, Ceyhan-Birsoy O, Misyura M, Rana S, O'Reilly E, Carlo M I, Aghajanian C, Liu Y, Derakhshan F, Jayakumaran G, Weigelt B, Walsh M, Stadler Z, Offit K, Ladanyi M, Robson M, Zehir A, Reis-Filho J S, Mandelker |
| Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort. Journal of neurology 2023 12 . Beiyao Zhu, Tingting Zheng, Wei Wang, Yihui Gu, Chengjiang Wei, Qingfeng Li, Zhichao Wa |
| Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants. Pediatric neurology 2023 10 149 69-74. Yasar Bildirici, Ayca Kocaaga, Cefa Nil Karademir-Arslan, Sevgi Yimeniciog |
| A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort. Cancers 2023 1 15 (1): . Paterra Rosina, Bettinaglio Paola, Borghi Arianna, Mangano Eleonora, Tritto Viviana, Cesaretti Claudia, Schettino Carla, Bordoni Roberta, Santoro Claudia, Avignone Sabrina, Moscatelli Marco, Melone Mariarosa Anna Beatrice, Saletti Veronica, Piluso Giulio, Natacci Federica, Riva Paola, Eoli Mari |
| Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice. iScience 2024 11 27 (11): 111073. Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Go |
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