PMC Articles for MedGen (Select 167085) - PMC

Select item 35732031.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Onur Emre Onat, Suleyman Gulsuner, Kaya Bilguvar, Ayse Nazli Basak, Haluk Topaloglu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik

Eur J Hum Genet. 2013 Mar; 21(3): 281–285. Published online 2012 Aug 15. doi: 10.1038/ejhg.2012.170

PMCID:: PMC3573203

Abstract Article PDF–1009K

Select item 23937562.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

Tayfun Ozcelik, Nurten Akarsu, Elif Uz, Safak Caglayan, Suleyman Gulsuner, Onur Emre Onat, Meliha Tan, Uner Tan

Proc Natl Acad Sci U S A. 2008 Mar 18; 105(11): 4232–4236. Published online 2008 Mar 7. doi: 10.1073/pnas.0710010105

PMCID:: PMC2393756

Abstract Article PDF–923K

Select item 95286293.

Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias

Mao Hagino, Chiharu Ota, Takehiko Onoki, Shinya Iwasawa

BMJ Case Rep. 2022; 15(9): e250342. Published online 2022 Sep 28. doi: 10.1136/bcr-2022-250342

PMCID:: PMC9528629

Abstract Article PDF–1.2M

Select item 87112984.

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

Dena R. Matalon, David A. Stevenson, Elizabeth J. Bhoj, Avni B. Santani, Beth Keena, Meryl S. Cohen, Angela E. Lin, Sarah E. Sheppard, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2022 May 1.

Published in final edited form as: Am J Med Genet A. 2021 May; 185(5): 1486–1493. Published online 2021 Mar 8. doi: 10.1002/ajmg.a.62146

PMCID:: PMC8711298

Abstract Article PDF–267K

Select item 37107675.

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara

Am J Hum Genet. 2013 Jul 11; 93(1): 173–180. doi: 10.1016/j.ajhg.2013.05.021

PMCID:: PMC3710767

Abstract Article PDF–913K

Select item 30836096.

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L Collins, Göran Annerén, Bernt-Oves Hedberg, Carol A Delaney, James Iremonger, Caroline M Murray, John A Crolla, Colm Costigan, Wayne Lam, David R Fitzpatrick, Regina Regan, Sean Ennis, Freddie Sharkey

Eur J Hum Genet. 2011 May; 19(5): 534–539. Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.215

PMCID:: PMC3083609

Abstract Article PDF–379K

Select item 30494027.

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1^L613V mutation

Xue Wu, Jeremy Simpson, Jenny H. Hong, Kyoung-Han Kim, Nirusha K. Thavarajah, Peter H. Backx, Benjamin G. Neel, Toshiyuki Araki

J Clin Invest. 2011 Mar 1; 121(3): 1009–1025. Published online 2011 Feb 21. doi: 10.1172/JCI44929

PMCID:: PMC3049402

Abstract Article PDF–4.5M

Select item 30493778.

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

Talita M. Marin, Kimberly Keith, Benjamin Davies, David A. Conner, Prajna Guha, Demetrios Kalaitzidis, Xue Wu, Jessica Lauriol, Bo Wang, Michael Bauer, Roderick Bronson, Kleber G. Franchini, Benjamin G. Neel, Maria I. Kontaridis

J Clin Invest. 2011 Mar 1; 121(3): 1026–1043. Published online 2011 Feb 21. doi: 10.1172/JCI44972

PMCID:: PMC3049377

Abstract Article PDF–5.0M

Select item 13773019.

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

K Majamaa, J S Moilanen, S Uimonen, A M Remes, P I Salmela, M Kärppä, K A Majamaa-Voltti, H Rusanen, M Sorri, K J Peuhkurinen, I E Hassinen

Am J Hum Genet. 1998 Aug; 63(2): 447–454. doi: 10.1086/301959

PMCID:: PMC1377301

Summary PDF–265K

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