PMC Links for GEO Profiles (Select 132529923) - PMC

Select item 75541041.

A novel homozygous KY variant causing a complex neurological disorder

Beenish Arif, Arisha Rasheed, Kishore R Kumar, Amara Fatima, Ghazanfar Abbas, Elizabeth Wohler, Nara Sobriera, Katja Lohmann, Sadaf Naz, Baylor-Hopkins Center for Mendelian Genomics

Eur J Med Genet. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Eur J Med Genet. 2020 Nov; 63(11): 104031. Published online 2020 Aug 18. doi: 10.1016/j.ejmg.2020.104031

PMCID:: PMC7554104

Abstract Article PDF–484K

Select item 55671522.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk

Eur J Hum Genet. 2017 Aug; 25(8): 966–972. Published online 2017 May 10. doi: 10.1038/ejhg.2017.85

PMCID:: PMC5567152

Abstract Article PDF–1.1M

Select item 51179423.

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

Carola Hedberg-Oldfors, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen, Peter F M van der Ven, Anders Oldfors

Eur J Hum Genet. 2016 Dec; 24(12): 1771–1777. Published online 2016 Aug 3. doi: 10.1038/ejhg.2016.98

PMCID:: PMC5117942

Abstract Article PDF–3.1M

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 28964645.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 13561296.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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