PMC Links for Nucleotide (Select 1653960864) - PMC

Select item 63454211.

Genetic architecture of human thinness compared to severe obesity

Fernando Riveros-McKay, Vanisha Mistry, Rebecca Bounds, Audrey Hendricks, Julia M. Keogh, Hannah Thomas, Elana Henning, Laura J. Corbin, Understanding Society Scientific Group, Stephen O’Rahilly, Eleftheria Zeggini, Eleanor Wheeler, Inês Barroso, I. Sadaf Farooqi

PLoS Genet. 2019 Jan; 15(1): e1007603. Published online 2019 Jan 24. doi: 10.1371/journal.pgen.1007603

PMCID:: PMC6345421

Abstract Article PDF–1.3M

Select item 4476052.

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik-Schöneborn, Michael Mrug, William Sweeney, Ellis D. Avner, Klaus Zerres, Lisa M. Guay-Woodford, Stefan Somlo, Gregory G. Germino

Am J Hum Genet. 2002 May; 70(5): 1305–1317. Published online 2002 Mar 15. doi: 10.1086/340448

PMCID:: PMC447605

Abstract Article PDF–584K

Select item 63201313.

A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report

Kangan Tan, Peng Liu, Lili Pang, Wanna Yang, Fengqin Hou

Medicine (Baltimore) 2018 Dec; 97(50): e13531. Published online 2018 Dec 14. doi: 10.1097/MD.0000000000013531

PMCID:: PMC6320131

Abstract Article PDF–297K

Select item 56017464.

Genomic variants link to hepatitis C racial disparities

Matthew M. Yeh, Sarag Boukhar, Benjamin Roberts, Nairanjana Dasgupta, Sayed S. Daoud

Oncotarget. 2017 Aug 29; 8(35): 59455–59475. Published online 2017 Aug 1. doi: 10.18632/oncotarget.19755

PMCID:: PMC5601746

Abstract Article PDF–6.3M

Select item 52978705.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Abstract Article PDF–172K

Select item 48535426.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Al-Jurayb, Ahmed Alahmed, Asma I Tahir, Dania Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S Binhumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Altassan, Dorota Monies, Brian Meyer, John A Sayer, Mamdouh Albaqumi

J Med Genet. 2016 May; 53(5): 338–347. Published online 2016 Feb 9. doi: 10.1136/jmedgenet-2015-103469

PMCID:: PMC4853542

Abstract Article PDF–2.1M

Select item 46948777.

Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics

Sarah Munchel, Yen Hoang, Yue Zhao, Joseph Cottrell, Brandy Klotzle, Andrew K. Godwin, Devin Koestler, Peter Beyerlein, Jian-Bing Fan, Marina Bibikova, Jeremy Chien

Oncotarget. 2015 Sep 22; 6(28): 25943–25961. Published online 2015 Jul 31. doi: 10.18632/oncotarget.4671

PMCID:: PMC4694877

Abstract Article PDF–6.7M

Select item 15599308.

L1 Antisense Promoter Drives Tissue-Specific Transcription of Human Genes

Kert Mätlik, Kaja Redik, Mart Speek

J Biomed Biotechnol. 2006; 2006: 71753. Published online 2006 May 9. doi: 10.1155/JBB/2006/71753

PMCID:: PMC1559930

Abstract Article PDF–15M

Select item 13802369.

Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing

Michael Hiller, Klaus Huse, Karol Szafranski, Niels Jahn, Jochen Hampe, Stefan Schreiber, Rolf Backofen, Matthias Platzer

Am J Hum Genet. 2006 Feb; 78(2): 291–302. Published online 2005 Dec 22. doi: 10.1086/500151

Correction in:: Am J Hum Genet. 2006 Apr; 78(4): 733.

PMCID:: PMC1380236

Abstract Article PDF–715K

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