U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 136

1.
Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions
Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann
Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042
PMCID:
PMC7027195
ArticlePDF–1.2M
2.
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero
Orphanet J Rare Dis. 2020; 15: 30. Published online 2020 Jan 29. doi: 10.1186/s13023-019-1274-3
PMCID:
PMC6990533
ArticlePDF–687K
3.
Preparation and SPECT/CT Imaging of 177Lu-Labeled Peptide Nucleic Acid (PNA) Targeting CITED1: Therapeutic Evaluation in Tumor-Bearing Nude Mice
Jia Li, Lei Zhang, Wenbo Li, Chengming Lei, Yiyi Cao, Ying Wang, Zhengjie Wang, Hua Pang
Onco Targets Ther. 2020; 13: 487–496. Published online 2020 Jan 15. doi: 10.2147/OTT.S238098
PMCID:
PMC6970276
ArticlePDF–5.4M
4.
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Katherine Johansen Taber, Jeraldine Lim‐Harashima, Harris Naemi, Jim Goldberg
Mol Genet Genomic Med. 2019 Dec; 7(12): e1024. Published online 2019 Nov 6. doi: 10.1002/mgg3.1024
PMCID:
PMC6900367
ArticlePDF–545K
5.
Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study
Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza
Mol Genet Genomic Med. 2019 Nov; 7(11): e981. Published online 2019 Sep 30. doi: 10.1002/mgg3.981
PMCID:
PMC6825844
ArticlePDF–1.9M
6.
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation
Dara McCreary, Ebun Omoyinmi, Ying Hong, Ciara Mulhern, Charalampia Papadopoulou, Marina Casimir, Yael Hacohen, Rodney Nyanhete, Helena Ahlfors, Thomas Cullup, Ming Lim, Kimberly Gilmour, Kshitij Mankad, Evangeline Wassmer, Stefan Berg, Cheryl Hemingway, Paul Brogan, Despina Eleftheriou
JAMA Netw Open. 2019 Oct; 2(10): e1914274. Published online 2019 Oct 30. doi: 10.1001/jamanetworkopen.2019.14274
PMCID:
PMC6824223
Article
7.
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients
Amy Kritzer, Aishwarya Siddharth, Kate Leestma, Olaf Bodamer
Mol Genet Metab Rep. 2019 Dec; 21: 100530. Published online 2019 Oct 19. doi: 10.1016/j.ymgmr.2019.100530
PMCID:
PMC6807367
ArticlePDF–169K
8.
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti
Front Genet. 2019; 10: 974. Published online 2019 Oct 10. doi: 10.3389/fgene.2019.00974
PMCID:
PMC6796300
ArticlePDF–2.6M
9.
Genomics and the future of psychopharmacology: MicroRNAs offer novel therapeutics

David Gurwitz
Dialogues Clin Neurosci. 2019 Jun; 21(2): 131–148. doi: 10.31887/DCNS.2019.21.2/dgurwitz
PMCID:
PMC6787538
ArticlePDF–344K
10.
Circ-SMARCA5 suppresses progression of multiple myeloma by targeting miR-767-5p
Haiyan Liu, Yan Wu, Shunye Wang, Jie Jiang, Chenlu Zhang, Yijing Jiang, Xingfeng Wang, Lewen Hong, Hongming Huang
BMC Cancer. 2019; 19: 937. Published online 2019 Oct 10. doi: 10.1186/s12885-019-6088-0
PMCID:
PMC6785934
ArticlePDF–7.6M
11.
Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique
Hao Wang, Hui Zhu, Nan Wang, Tong Cheng, Bing Han, Shuangxia Zhao, Huaidong Song, Kaixiang Cheng, Yang Liu, Jie Qiao
Mol Genet Genomic Med. 2019 Oct; 7(10): e00906. Published online 2019 Aug 20. doi: 10.1002/mgg3.906
PMCID:
PMC6785456
ArticlePDF–351K
12.
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease
Patrícia Varela, Myrtes Martins Caldas, João Bosco Pesquero
Front Genet. 2019; 10: 783. Published online 2019 Sep 27. doi: 10.3389/fgene.2019.00783
PMCID:
PMC6777637
ArticlePDF–1.1M
13.
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
Dominique P. Germain, Kathy Nicholls, Roberto Giugliani, Daniel G. Bichet, Derralynn A. Hughes, Laura M. Barisoni, Robert B. Colvin, J. Charles Jennette, Nina Skuban, Jeffrey P. Castelli, Elfrida Benjamin, Jay A. Barth, Christopher Viereck
Genet Med. 2019; 21(9): 1987–1997. Published online 2019 Feb 6. doi: 10.1038/s41436-019-0451-z
PMCID:
PMC6752321
ArticlePDF–770K
14.
Functional evaluation of a novel GLA causative mutation in Fabry disease
Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu
Mol Genet Genomic Med. 2019 Sep; 7(9): e864. Published online 2019 Jul 18. doi: 10.1002/mgg3.864
PMCID:
PMC6732343
ArticlePDF–1.0M
15.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Genet Mol Biol. 2019; 42(1 Suppl 1): 197–206. Published online 2019 Apr 11. doi: 10.1590/1678-4685-GMB-2018-0092
PMCID:
PMC6687342
ArticlePDF–1.0M
16.
Patterns of conservation of spliceosomal intron structures and spliceosome divergence in representatives of the diplomonad and parabasalid lineages
Andrew J. Hudson, David C. McWatters, Bradley A. Bowser, Ashley N. Moore, Graham E. Larue, Scott W. Roy, Anthony G. Russell
BMC Evol Biol. 2019; 19: 162. Published online 2019 Aug 2. doi: 10.1186/s12862-019-1488-y
PMCID:
PMC6679479
ArticlePDF–3.6M
17.
Cytotoxic Effects of Juglone and Pterocarya fraxinifolia on Prostate Cancer Cells
Morteza Mahdavi, Mohammad Azadbakht, Akbar Vahdati, Mohammad Shokrzadeh, Ayub Farhadi
J Pharm Bioallied Sci. 2019 Jul-Sep; 11(3): 195–204. doi: 10.4103/jpbs.JPBS_203_18
PMCID:
PMC6662039
Article
18.
Fabry pedigree analysis: A successful program for targeted genetic approach
Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci
Mol Genet Genomic Med. 2019 Jul; 7(7): e00794. Published online 2019 Jun 6. doi: 10.1002/mgg3.794
PMCID:
PMC6625140
ArticlePDF–226K
19.
Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases
Dragana Protic, Elber Y. Aydin, Flora Tassone, Maria M. Tan, Randi J. Hagerman, Andrea Schneider
Mol Genet Genomic Med. 2019 Jul; 7(7): e00745. Published online 2019 May 18. doi: 10.1002/mgg3.745
PMCID:
PMC6625129
ArticlePDF–373K
20.
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome
Jafar NASIRI, Mansoor SALEHI, Majid HOSSEINZADEH, Mahdi ZAMANI, Shirin FATTAHPOUR, Omid ARYANI, Esmat FAZEL NAJAFABADI, Maryam JABARZADEH, Sara ASADI, Tahereh GHOLAMREZAPOUR, Maryam SEDGHI, Fatemeh GHORBANI
Iran J Child Neurol. 2019 Summer; 13(3): 25–34.
PMCID:
PMC6586453
ArticlePDF–274K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

You are here: NCBI > Literature > PubMed Central (PMC)
Support Center