PMC Links for Nucleotide (Select 1496434522) - PMC

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Items: 10

Select item 60422731.

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu

BMC Med Genet. 2018; 19: 114. Published online 2018 Jul 11. doi: 10.1186/s12881-018-0635-4

PMCID:: PMC6042273

Abstract Article PDF–2.2M

Select item 54157232.

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

Fatemeh Keyfi, Mohammad Reza Abbaszadegan, Arndt Rolfs, Slobodanka Orolicki, Morteza Moghaddassian, Abdolreza Varasteh

Cell Mol Biol Lett. 2016; 21: 4. Published online 2016 Jul 28. doi: 10.1186/s11658-016-0005-1

PMCID:: PMC5415723

Abstract Article PDF–2.5M

Select item 1377553.

Identification of the gene responsible for the cblA complementation group of vitamin B₁₂-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

C. Melissa Dobson, Timothy Wai, Daniel Leclerc, Aaron Wilson, Xuchu Wu, Carole Doré, Thomas Hudson, David S. Rosenblatt, Roy A. Gravel

Proc Natl Acad Sci U S A. 2002 Nov 26; 99(24): 15554–15559. Published online 2002 Nov 15. doi: 10.1073/pnas.242614799

PMCID:: PMC137755

Abstract Article PDF–450K

Select item 69783994.

Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia

Min Chen, Hu Hao, Hui Xiong, Yao Cai, Fei Ma, Congcong Shi, Xin Xiao, Sitao Li

Mol Genet Genomic Med. 2020 Jan; 8(1): e1063. Published online 2019 Dec 2. doi: 10.1002/mgg3.1063

PMCID:: PMC6978399

Abstract Article PDF–763K

Select item 63573435.

Identification of long non-coding RNA-related and –coexpressed mRNA biomarkers for hepatocellular carcinoma

Fan Zhang, Linda Ding, Li Cui, Robert Barber, Bin Deng

BMC Med Genomics. 2019; 12(Suppl 1): 25. Published online 2019 Jan 31. doi: 10.1186/s12920-019-0472-0

PMCID:: PMC6357343

Abstract Article PDF–1.2M

Select item 59772076.

Validation of Ion Torrent^TM Inherited Disease Panel with the PGM^TM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan

Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267

PMCID:: PMC5977207

Abstract Article PDF–424K

Select item 50591857.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Faiqa Imtiaz, Bashayer M. Al-Mubarak, Abeer Al-Mostafa, Mohamed Al-Hamed, Rabab Allam, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Rahbeeni, Alya Qari, Eissa Ali Faqeih, Ali Alasmari, Fuad Al-Mutairi, Majid Alfadhel, Wafaa M. Eyaid, Mohamed S. Rashed, Moeenaldeen Al-Sayed

JIMD Rep. 2016; 29: 39–46. Published online 2015 Nov 29. doi: 10.1007/8904_2014_297

PMCID:: PMC5059185

Abstract Article PDF–603K

Select item 47414788.

Identification of thyroid tumor cell vulnerabilities through a siRNA-based functional screening

Maria Chiara Anania, Fabio Gasparri, Elena Cetti, Ivan Fraietta, Katia Todoerti, Claudia Miranda, Mara Mazzoni, Claudia Re, Riccardo Colombo, Giorgio Ukmar, Stefano Camisasca, Sonia Pagliardini, Marco A. Pierotti, Antonino Neri, Arturo Galvani, Angela Greco

Oncotarget. 2015 Oct 27; 6(33): 34629–34648. Published online 2015 Sep 25. doi: 10.18632/oncotarget.5282