PMC Links for Nucleotide (Select 213385299) - PMC

Select item 3849021.

C→U Editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type II Transcript and apobec-1, the Catalytic Subunit of the Apolipoprotein B mRNA–Editing Enzyme

Debnath Mukhopadhyay, Shrikant Anant, Robert M. Lee, Susan Kennedy, David Viskochil, Nicholas O. Davidson

Am J Hum Genet. 2002 Jan; 70(1): 38–50. Published online 2001 Nov 27. doi: 10.1086/337952

PMCID:: PMC384902

Abstract Article PDF–685K

Select item 1456542.

The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing.

G R Skuse, A J Cappione, M Sowden, L J Metheny, H C Smith

Nucleic Acids Res. 1996 Feb 1; 24(3): 478–485. doi: 10.1093/nar/24.3.478

PMCID:: PMC145654

Summary PDF–129K

Select item 69987463.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 69782284.

Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review

Zeqian Ning, Zhiqian Yang, Gaofei Chen, Wenjiao Wu, Longshuang He, Yesheng Sun, Dongpeng Cai, Wei Zhang

Mol Genet Genomic Med. 2020 Jan; 8(1): e1035. Published online 2019 Nov 11. doi: 10.1002/mgg3.1035

PMCID:: PMC6978228

Abstract Article PDF–986K

Select item 60666435.

Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I

Min Xu, Hui Xiong, Yanfang Han, Chijun Li, Shaozhen Mai, Zhongzhou Huang, Xuechen Ai, Zhixuan Guo, Fanqin Zeng, Qing Guo

Front Genet. 2018; 9: 270. Published online 2018 Jul 24. doi: 10.3389/fgene.2018.00270

PMCID:: PMC6066643

Abstract Article PDF–734K

Select item 59249916.

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Jin Wook Yi, Hye In Kang, Su-jin Kim, Chan Yong Seong, Young Jun Chai, June Young Choi, Moon-Woo Seong, Kyu Eun Lee, Sung Sup Park

Case Rep Endocrinol. 2018; 2018: 8657914. Published online 2018 Apr 15. doi: 10.1155/2018/8657914

PMCID:: PMC5924991

Abstract Article PDF–1.4M

Select item 56667537.

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana Carli, Stefania Bigoni, Elena Boschi, Davide Martorana, Antonio Percesepe

Int J Mol Sci. 2017 Oct; 18(10): 2071. Published online 2017 Sep 29. doi: 10.3390/ijms18102071

PMCID:: PMC5666753

Abstract Article PDF–973K

Select item 51925098.

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene

Karin Soares Cunha, Nathalia Silva Oliveira, Anna Karoline Fausto, Carolina Cruz de Souza, Audrey Gros, Thomas Bandres, Yamina Idrissi, Jean-Philippe Merlio, Rodrigo Soares de Moura Neto, Rosane Silva, Mauro Geller, David Cappellen

Genes (Basel) 2016 Dec; 7(12): 133. Published online 2016 Dec 17. doi: 10.3390/genes7120133

PMCID:: PMC5192509

Abstract Article PDF–1.2M

Select item 47951039.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti, Sara Bargiacchi, Eva Trevisson, Monica Forzan, Sandra Giustini, Chiara Leoni, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Maurizio Clementi, Marco Tartaglia, Alessandro De Luca

Eur J Hum Genet. 2015 Aug; 23(8): 1068–1071. Published online 2014 Nov 5. doi: 10.1038/ejhg.2014.243

PMCID:: PMC4795103

Abstract Article PDF–467K

Select item 479505710.

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Denise Emmerich, Tomasz Zemojtel, Jochen Hecht, Peter Krawitz, Malte Spielmann, Jirko Kühnisch, Karolina Kobus, Monika Osswald, Verena Heinrich, Peter Berlien, Ute Müller, Victor-F Mautner, Katharina Wimmer, Peter N Robinson, Martin Vingron, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk

Eur J Hum Genet. 2015 Jun; 23(6): 870–873. Published online 2014 Oct 8. doi: 10.1038/ejhg.2014.210

PMCID:: PMC4795057

Abstract Article PDF–205K

Select item 469413611.

126 novel mutations in Italian patients with neurofibromatosis type 1

Donatella Bianchessi, Sara Morosini, Veronica Saletti, Maria Cristina Ibba, Federica Natacci, Silvia Esposito, Claudia Cesaretti, Daria Riva, Gaetano Finocchiaro, Marica Eoli

Mol Genet Genomic Med. 2015 Nov; 3(6): 513–525. Published online 2015 Jul 7. doi: 10.1002/mgg3.161

PMCID:: PMC4694136

Abstract Article PDF–833K

Select item 414838512.

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions

GUN-HOO PARK, SU-JIN LEE, HYUNE YIM, JAE-HO HAN, HYON J. KIM, YOUNG-BAE SOHN, JUNG MIN KO, SEON-YONG JEONG

Oncol Rep. 2014 Oct; 32(4): 1347–1354. Published online 2014 Aug 4. doi: 10.3892/or.2014.3379

PMCID:: PMC4148385

Abstract Article PDF–537K

Select item 339725713.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Abstract Article PDF–506K

Select item 315154714.

Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH

Carles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, Jaume Mercadé, Eva Pros, Llúcia Benito, Yolanda Benavente, Gabriel Capellà, Anna Ravella, Ignacio Blanco, Hildegard Kehrer-Sawatzki, Conxi Lázaro, Eduard Serra

Hum Mutat. 2011 Jan; 32(1): 78–90. Published online 2010 Oct 28. doi: 10.1002/humu.21387

PMCID:: PMC3151547

Abstract Article PDF–742K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 14

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity