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Query Trace: Neurofibroma and NF1[orginal query]

Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype. Breast cancer research and treatment 2018 Jun . Yap Yoon-Sim, Munusamy Prabhakaran, Lim Cindy, Chan Claire H T, Prawira Aldo, Loke Sau-Yeen, Lim Swee-Ho, Ong Kong-Wee, Yong Wei-Sean, Ng Sarah B H, Tan Iain B H, Callen David F, Lim Jeffrey C T, Thike Aye-Aye, Tan Puay-Hoon, Lee Ann S Similar articles in PubMed
Clinical and molecular characterization of neurofibromatosis in southern Brazil. Expert review of molecular diagnostics 2018 Apr 1-10. Rosset Clévia, Vairo Filippo, Cristina Bandeira Isabel, Fonini Maievi, Netto Cristina Brinckmann Oliveira, Ashton-Prolla Patric Similar articles in PubMed
Next-generation panel sequencing identifies European journal of endocrinology 2018 Feb 178 (2): K1-K9. Gieldon Laura, Masjkur Jimmy Rusdian, Richter Susan, Därr Roland, Lahera Marcos, Aust Daniela, Zeugner Silke, Rump Andreas, Hackmann Karl, Tzschach Andreas, Januszewicz Andrzej, Prejbisz Aleksander, Eisenhofer Graeme, Schrock Evelin, Robledo Mercedes, Klink Barba Similar articles in PubMed
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PloS one 2018 13 (7): e0200446. Santoro Claudia, Giugliano Teresa, Kraemer Markus, Torella Annalaura, Schwitalla Jan Claudius, Cirillo Mario, Melis Daniela, Berlit Peter, Nigro Vincenzo, Perrotta Silverio, Piluso Giul Similar articles in PubMed
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors. Genes, chromosomes & cancer 2017 Jan . Sohier Pierre, Luscan Armelle, Lloyd Angharad, Ashelford Kevin, Laurendeau Ingrid, Briand-Suleau Audrey, Vidaud Dominique, Ortonne Nicolas, Pasmant Eric, Upadhyaya Mee Similar articles in PubMed
Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation. The Journal of dermatology 2016 Jul . Zhu Lude, Shi Lei, Wang Bo, Bi Mingye, Pu Jie, Zhang Linglin, Zhang Yunfeng, Wang Xiuli, Zhang Guolo Similar articles in PubMed
Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen. European journal of human genetics : EJHG 2016 Jun . Kluwe L Similar articles in PubMed
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. Human genetics 2016 Mar . Hutter Sonja, Piro Rosario M, Waszak Sebastian M, Kehrer-Sawatzki Hildegard, Friedrich Reinhard E, Lassaletta Alvaro, Witt Olaf, Korbel Jan O, Lichter Peter, Schuhmann Martin U, Pfister Stefan M, Tabori Uri, Mautner Victor F, Jones David T Similar articles in PubMed
Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. Journal of neurosurgery. Pediatrics 2016 Feb 1-6. Phi Ji Hoon, Choi Jung Won, Seong Moon-Woo, Kim Tackeun, Moon Youn Joo, Lee Joongyub, Koh Eun Jung, Ryu Seul Ki, Kang Tae Hee, Bang Jae Seung, Oh Chang Wan, Park Sung Sup, Lee Ji Yeoun, Wang Kyu-Chang, Kim Seung- Similar articles in PubMed
Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? The Turkish journal of pediatrics 2016 58 (2): 152-158. Tany?ld?z Hikmet Gül?ah, Ye?il ?ule, Bozkurt Ceyhun, Çand?r Mehmet Onur, Akp?nar-Tekgündüz Sibel, Toprak ?ule, Yüksel Deniz, ?ahin Gürs Similar articles in PubMed
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1. Journal of neurochemistry 2015 Oct . Esposito Teresa, Piluso Giulio, Saracino Dario, Uccello Rossella, Schettino Carla, Dato Clemente, Capaldo Guglielmo, Giugliano Teresa, Varriale Bruno, Paolisso Giuseppe, Di Iorio Giuseppe, Melone Mariarosa A Similar articles in PubMed
Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children. The Journal of dermatology 2015 Oct . Yao Ruen, Wang Lili, Yu Yongguo, Wang Jian, Shen Yipi Similar articles in PubMed
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? European journal of human genetics : EJHG 2015 May 23 (5): 596-601. Pasmant Eric, Parfait Béatrice, Luscan Armelle, Goussard Philippe, Briand-Suleau Audrey, Laurendeau Ingrid, Fouveaut Corinne, Leroy Chrystel, Montadert Annelore, Wolkenstein Pierre, Vidaud Michel, Vidaud Dominiq Similar articles in PubMed
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. Journal of medical genetics 2015 Apr 52 (4): 256-61. Sant David W, Margraf Rebecca L, Stevenson David A, Grossmann Allie H, Viskochil David H, Hanson Heather, Everitt Melanie D, Rios Jonathan J, Elefteriou Florent, Hennessey Theresa, Mao Ro Similar articles in PubMed
NF1 single and multi-exons copy number variations in neurofibromatosis type 1. Journal of human genetics 2015 Apr 60 (4): 221-4. Imbard Apolline, Pasmant Eric, Sabbagh Audrey, Luscan Armelle, Soares Magali, Goussard Philippe, Blanché Hélène, Laurendeau Ingrid, Ferkal Salah, Vidaud Michel, Pinson Stéphane, Bellanne-Chantelot Christine, Vidaud Dominique, Wolkenstein Pierre, , Parfait Béatri Similar articles in PubMed
High-resolution 400K oligonucleotide array comparative genomic hybridization analysis of neurofibromatosis type 1-associated cutaneous neurofibromas. Gene 2015 Mar 558 (2): 220-6. Asai Akiko, Karnan Sivasundaram, Ota Akinobu, Takahashi Miyuki, Damdindorj Lhagvasuren, Konishi Yuko, Hossain Ekhtear, Konishi Hiroyuki, Nagata Ayako, Yokoo Kazuhisa, Hosokawa Yoshita Similar articles in PubMed
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. Scientific reports 2015 5 11291. Zhang Jia, Tong Hanxing, Fu Xi'an, Zhang Yong, Liu Jiangbo, Cheng Ruhong, Liang Jianying, Peng Jie, Sun Zhonghui, Liu Hong, Zhang Furen, Lu Weiqi, Li Ming, Yao Zhiro Similar articles in PubMed
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. Genetic testing and molecular biomarkers 2014 Nov 18 (11): 722-35. Maruoka Ryo, Takenouchi Toshiki, Torii Chiharu, Shimizu Atsushi, Misu Kumiko, Higasa Koichiro, Matsuda Fumihiko, Ota Arihito, Tanito Katsumi, Kuramochi Akira, Arima Yoshimi, Otsuka Fujio, Yoshida Yuichi, Moriyama Keiji, Niimura Michihito, Saya Hideyuki, Kosaki Kenji Similar articles in PubMed
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Human mutation 2013 Nov 34 (11): 1510-8. Sabbagh Audrey, Pasmant Eric, Imbard Apolline, Luscan Armelle, Soares Magali, Blanché Hélène, Laurendeau Ingrid, Ferkal Salah, Vidaud Michel, Pinson Stéphane, Bellanné-Chantelot Christine, Vidaud Dominique, Parfait Béatrice, Wolkenstein Pier Similar articles in PubMed
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 Similar articles in PubMed
Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia. American journal of hematology 2013 Apr 88 (4): 306-11. Boudry-Labis Elise, Roche-Lestienne Catherine, Nibourel Olivier, Boissel Nicolas, Terre Christine, Perot Christine, Eclache Virginie, Gachard Nathalie, Tigaud Isabelle, Plessis Ghislaine, Cuccuini Wendy, Geffroy Sandrine, Villenet Céline, Figeac Martin, Leprêtre Frederic, Renneville Aline, Cheok Meyling, Soulier Jean, Dombret Hervé, Preudhomme Claude, Similar articles in PubMed
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Human genomics 2012 6 (1): 1. Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M Similar articles in PubMed
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC medical genetics 2012 13 (1): 98. Mußotter Tanja, Kluwe Lan, Högel Josef, Nguyen Rosa, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildega Similar articles in PubMed
Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2011 Dec 27 (12): 2113-6. Terzi Yunus Kasim, Sirin Burcu, Serdaroglu Esra, Anlar Banu, Aysun Sabiha, Hosgor Guzen, Arslan Elif Acar, Ayter Sukri Similar articles in PubMed
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. Journal of the National Cancer Institute 2011 Nov 103 (22): 1713-22. Pasmant Eric, Sabbagh Audrey, Masliah-Planchon Julien, Ortonne Nicolas, Laurendeau Ingrid, Melin Lucie, Ferkal Salah, Hernandez Lucie, Leroy Karen, Valeyrie-Allanore Laurence, Parfait Béatrice, Vidaud Dominique, Bièche Ivan, Lantieri Laurent, Wolkenstein Pierre, Vidaud Michel, Similar articles in PubMed
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. Journal of medical genetics 2010 Sep 47 (9): 623-30. Mautner V-F, Kluwe L, Friedrich R E, Roehl A C, Bammert S, Högel J, Spöri H, Cooper D N, Kehrer-Sawatzki Similar articles in PubMed
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human mutation 2010 Jun 31 (6): E1506-18. Pasmant Eric, Sabbagh Audrey, Spurlock Gill, Laurendeau Ingrid, Grillo Elisa, Hamel Marie-José, Martin Ludovic, Barbarot Sébastien, Leheup Bruno, Rodriguez Diana, Lacombe Didier, Dollfus Hélène, Pasquier Laurent, Isidor Bertrand, Ferkal Salah, Soulier Jean, Sanson Marc, Dieux-Coeslier Anne, Bièche Ivan, Parfait Béatrice, Vidaud Michel, Wolkenstein Pierre, Upadhyaya Meena, Vidaud Dominique, Similar articles in PubMed
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 2009 Nov 302 (19): 2111-8. Messiaen Ludwine, Yao Suxia, Brems Hilde, Callens Tom, Sathienkijkanchai Achara, Denayer Ellen, Spencer Emily, Arn Pamela, Babovic-Vuksanovic Dusica, Bay Carolyn, Bobele Gary, Cohen Bruce H, Escobar Luis, Eunpu Deborah, Grebe Theresa, Greenstein Robert, Hachen Rachel, Irons Mira, Kronn David, Lemire Edmond, Leppig Kathleen, Lim Cynthia, McDonald Marie, Narayanan Vinodh, Pearn Amy, Pedersen Robert, Powell Berkley, Shapiro Lawrence R, Skidmore David, Tegay David, Thiese Heidi, Zackai Elaine H, Vijzelaar Raymon, Taniguchi Koji, Ayada Toranoshin, Okamoto Fuyuki, Yoshimura Akihiko, Parret Annabel, Korf Bruce, Legius Er Similar articles in PubMed
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Journal of medical genetics 2009 Jul 46 (7): 431-7. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim H-Ping, Side L, Davies S, Haan E, Kerr B, Huson S M, Upadhyaya Similar articles in PubMed
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. The Journal of pathology 2009 Apr 217 (5): 693-701. Bottillo Irene, Ahlquist Terje, Brekke Helge, Danielsen Stine A, van den Berg Eva, Mertens Fredrik, Lothe Ragnhild A, Dallapiccola Bru Similar articles in PubMed
Neurofibromatosis type 1 and infantile spasms. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2009 Feb 25 (2): 211-6. Ruggieri Martino, Iannetti Paola, Clementi Maurizio, Polizzi Agata, Incorpora Gemma, Spalice Alberto, Pavone Piero, Praticò Andrea Domenico, Elia Maurizio, Gabriele Anna Lia, Tenconi Romano, Pavone Loren Similar articles in PubMed
MMP-13 and p53 in the progression of malignant peripheral nerve sheath tumors. Neoplasia (New York, N.Y.) 2007 Aug 9 (8): 671-7. Holtkamp Nikola, Atallah Isis, Okuducu Ali-Fuat, Mucha Jana, Hartmann Christian, Mautner Victor-F, Friedrich Reinhard E, Mawrin Christian, von Deimling Andre Similar articles in PubMed
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. American journal of human genetics 2005 Dec 77 (6): 1092-101. De Luca Alessandro, Bottillo Irene, Sarkozy Anna, Carta Claudio, Neri Cinzia, Bellacchio Emanuele, Schirinzi Annalisa, Conti Emanuela, Zampino Giuseppe, Battaglia Agatino, Majore Silvia, Rinaldi Maria M, Carella Massimo, Marino Bruno, Pizzuti Antonio, Digilio Maria Cristina, Tartaglia Marco, Dallapiccola Bru Similar articles in PubMed
Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. American journal of medical genetics. Part A 2004 Dec 131 (3): 227-31. Horan Martin P, Osborn Michael, Cooper David N, Upadhyaya Mee Similar articles in PubMed
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Human mutation 2004 Jun 23 (6): 629. De Luca Alessandro, Schirinzi Annalisa, Buccino Anna, Bottillo Irene, Sinibaldi Lorenzo, Torrente Isabella, Ciavarella Angela, Dottorini Tania, Porciello Roberto, Giustini Sandra, Calvieri Stefano, Dallapiccola Bru Similar articles in PubMed
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Human mutation 2004 Feb 23 (2): 111-6. Kluwe Lan, Siebert Reiner, Gesk Stefan, Friedrich Reinhard E, Tinschert Sigrid, Kehrer-Sawatzki Hildegard, Mautner Victor Similar articles in PubMed
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 Similar articles in PubMed
NF1 gene and neurofibromatosis 1. American journal of epidemiology 2000 Jan 151 (1): 33-40. Rasmussen S A, Friedman J Similar articles in PubMed
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 Similar articles in PubMed

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