Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Abnormalities and NF1[original query] |
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The prognostic significance of bone marrow levels of neurofibromatosis-1 protein and ras oncogene mutations in patients with acute myeloid leukemia and myelodysplastic syndrome. Cancer 2003 1 97 (2): 441-9. Lu Di, Nounou Randa, Beran Miloslav, Estey Elihu, Manshouri Taghi, Kantarjian Hagop, Keating Michael J, Albitar Mah |
NF1 gene analysis based on DHPLC. Human mutation 2003 Feb 21 (2): 171-2. De Luca Alessandro, Buccino Anna, Gianni Debora, Mangino Massimo, Giustini Sandra, Richetta Antonio, Divona Luigina, Calvieri Stefano, Mingarelli Rita, Dallapiccola Bru |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genetic testing 2006 10 (3): 186-91. Bertola Débora R, Pereira Alexandre C, Albano Lílian Maria José, De Oliveira Paulo S L, Kim Chong A, Krieger José Eduar |
Topographic molecular profile of pheochromocytomas: role of somatic down-regulation of mismatch repair. The Journal of clinical endocrinology and metabolism 2006 1 91 (3): 1150-8. Blanes Alfredo, Sanchez-Carrillo Juan J, Diaz-Cano Salvador |
Frequent genomic abnormalities in acute myeloid leukemia/myelodysplastic syndrome with normal karyotype. Haematologica 2009 Feb 94 (2): 213-23. Akagi Tadayuki, Ogawa Seishi, Dugas Martin, Kawamata Norihiko, Yamamoto Go, Nannya Yasuhito, Sanada Masashi, Miller Carl W, Yung Amanda, Schnittger Susanne, Haferlach Torsten, Haferlach Claudia, Koeffler H Phill |
CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood 2011 May 117 (21): e198-206. Makishima Hideki, Jankowska Anna M, McDevitt Michael A, O'Keefe Christine, Dujardin Simon, Cazzolli Heather, Przychodzen Bartlomiej, Prince Courtney, Nicoll John, Siddaiah Harish, Shaik Mohammed, Szpurka Hadrian, Hsi Eric, Advani Anjali, Paquette Ronald, Maciejewski Jaroslaw |
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clinical endocrinology 2013 Dec 79 (6): 817-23. P?czkowska Mariola, Kowalska Aldona, Sygut Jacek, Waligórski Dariusz, Malinoc Angelica, Janaszek-Sitkowska Hanna, Prejbisz Aleksander, Januszewicz Andrzej, Neumann Hartmut P |
Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proceedings of the National Academy of Sciences of the United States of America 2014 Aug 111 (31): 11473-8. Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen, Yuan Tao, Fernandez Minerva, Yung Christina K, Trinh Quang M, Peltekova Vanya D, Reid Jeffrey G, Tworog-Dube Erica, Morgan Margaret B, Muzny Donna M, Stein Lincoln, McPherson John D, Roberts Amy E, Gibbs Richard A, Neel Benjamin G, Kucherlapati Ra |
Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene. Case reports in oncological medicine 2015 1 2014 685857. Fernandes Gustavo, Souto Mirela, Costa Frederico, Oliveira Edite, Garicochea Bernar |
Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. Journal of neuropathology and experimental neurology 2016 Mar . Roth Jacquelyn J, Fierst Tamara M, Waanders Angela J, Yimei Li, Biegel Jaclyn A, Santi Mariari |
Targetable Alterations in Adult Patients With Soft-Tissue Sarcomas: Insights for Personalized Therapy. JAMA oncology 2018 May . Lucchesi Carlo, Khalifa Emmanuel, Laizet Yec'han, Soubeyran Isabelle, Mathoulin-Pelissier Simone, Chomienne Christine, Italiano Antoi |
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 |
Association of mutations with morphological dysplasia in de novo acute myeloid leukemia without 2016 WHO Classification-defined cytogenetic abnormalities. Haematologica 2018 Jan . Weinberg Olga K, Gibson Christopher J, Blonquist Traci M, Neuberg Donna, Pozdnyakova Olga, Kuo Frank, Ebert Benjamin L, Hasserjian Robert |
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 |
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy. Neuropediatrics 2020 5 51 (5): 368-372. Rademacher Annika, Schwarz Niklas, Seiffert Simone, Pendziwiat Manuela, Rohr Axel, van Baalen Andreas, Helbig Ingo, Weber Yvonne, Muhle Hiltr |
Ras pathway mutation feature in the same individuals at diagnosis and relapse of childhood acute lymphoblastic leukemia. Translational pediatrics 2020 Feb 9 (1): 4-12. Zhang Hong-Hong, Wang Hong-Sheng, Qian Xiao-Wen, Zhu Xiao-Hua, Miao Hui, Yu Yi, Meng Jian-Hua, Le Jun, Jiang Jun-Ye, Cao Ping, Jiang Wen-Jing, Wang Ping, Fu Yang, Li Jun, Qian Mao-Xiang, Zhai Xiao-W |
Identification of Genomic Alterations in Sporadic Pancreatic Neurogenic Tumors. Pancreas 2020 10 49 (10): 1393-1397. Wang Xi-Yu, Cai Jian-Peng, Song Le-Le, Huang Chen-Song, Chen Wei, Huang Xi-Tai, Chen Shi-Fu, Liu Xin-Yi, Yin Xiao- |
Clinical management and genomic profiling of pediatric low-grade gliomas in Saudi Arabia. PloS one 2020 1 15 (1): e0228356. Mobark Nahla A, Alharbi Musa, Alhabeeb Lamees, AlMubarak Latifa, Alaljelaify Rasha, AlSaeed Mariam, Almutairi Amal, Alqubaishi Fatmah, Ahmad Maqsood, Al-Banyan Ayman, Alotabi Fahad E, Barakeh Duna, AlZahrani Malak, Al-Khalidi Hisham, Ajlan Abdulrazag, Ramkissoon Lori A, Ramkissoon Shakti H, Abedalthagafi Mal |
Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI. Scientific reports 2021 8 11 (1): 16889. Well Lennart, Careddu Anna, Stark Maria, Farschtschi Said, Bannas Peter, Adam Gerhard, Mautner Victor-Felix, Salamon Johann |
Genomic Sequencing of Cancer-related Genes in Sinonasal Squamous Cell Carcinoma and Coexisting Inverted Papilloma. Anticancer research 2021 Jan 41 (1): 71-79. Uchi Ryutaro, Jiromaru Rina, Yasumatsu Ryuji, Yamamoto Hidetaka, Hongo Takahiro, Manako Tomomi, Sato Kuniaki, Hashimoto Kazuki, Wakasaki Takahiro, Matsuo Mioko, Nakagawa Takas |
Genomic landscape of TP53-mutated myeloid malignancies. Blood advances 2023 6 . Haley J Abel, Karolyn A Oetjen, Christopher A Miller, Sai M Ramakrishnan, Ryan B Day, Nichole M Helton, Catrina C Fronick, Robert S Fulton, Sharon E Heath, Stefan P Tarnawsky, Sridhar Nonavinkere Srivatsan, Eric J Duncavage, Molly C Schroeder, Jacqueline E Payton, David H Spencer, Matthew J Walter, Peter Westervelt, John F DiPersio, Timothy J Ley, Daniel C Li |
Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. Diagnostics (Basel, Switzerland) 2023 4 13 (7): . de Rivas Marta Orejudo, Gabás Javier Mateo, Cabeza Miguel Ángel Torralba, Floría Olivia Esteban, Latorre Raquel Herrero, Moscarda Eva Núñez, Clavería Julia Aramburu, Rivasés Guillermo Pérez, Puyuelo Javier Asca |
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
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 |
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- Page last updated:Mar 25, 2024
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