PMC Articles for MedGen (Select 899713) - PMC

Select item 104738891.

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3469–3481. Published online 2022 Sep 26. doi: 10.1002/ajmg.a.62972

PMCID:: PMC10473889

Abstract Article PDF–854K

Select item 63056452.

Screening of known disease genes in congenital scoliosis

Kazuki Takeda, Ikuyo Kou, Shuji Mizumoto, Shuhei Yamada, Noriaki Kawakami, Masahiro Nakajima, Nao Otomo, Yoji Ogura, Noriko Miyake, Naomichi Matsumoto, Toshiaki Kotani, Hideki Sudo, Ikuho Yonezawa, Koki Uno, Hiroshi Taneichi, Kei Watanabe, Hideki Shigematsu, Ryo Sugawara, Yuki Taniguchi, Shohei Minami, Masaya Nakamura, Morio Matsumoto, Japan Early Onset Scoliosis Research Group, Kota Watanabe, Shiro Ikegawa

Mol Genet Genomic Med. 2018 Nov; 6(6): 966–974. Published online 2018 Sep 9. doi: 10.1002/mgg3.466

PMCID:: PMC6305645

Abstract Article PDF–1.2M

Select item 45012543.

Notch Signaling In Skeletal Health and Disease

Stefano Zanotti, Ernesto Canalis

Eur J Endocrinol. Author manuscript; available in PMC 2015 Jul 14.

Published in final edited form as: Eur J Endocrinol. 2013 Jun; 168(6): R95–103. Published online 2013 May 8. doi: 10.1530/EJE-13-0115

PMCID:: PMC4501254

Abstract Article PDF–233K

Select item 44747194.

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat

Koichiro Abe, Nobuhiko Takamatsu, Kumiko Ishikawa, Toshiko Tsurumi, Sho Tanimoto, Yukina Sakurai, Thomas Lisse, Kenji Imai, Tadao Serikawa, Tomoji Mashimo

PLoS One. 2015; 10(6): e0130231. Published online 2015 Jun 19. doi: 10.1371/journal.pone.0130231

Correction in:: PLoS One. 2015; 10(7): e0134527.

PMCID:: PMC4474719

Abstract Article PDF–3.0M

Select item 30538745.

Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis.

Y. Park, G. Gong, G. Choe, E. Yu, K. S. Kim, I. Lee

J Korean Med Sci. 1993 Dec; 8(6): 471–475. doi: 10.3346/jkms.1993.8.6.471

PMCID:: PMC3053874

Summary PDF–43M

Select item 29873496.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

Duncan B Sparrow, David Sillence, Merridee A Wouters, Peter D Turnpenny, Sally L Dunwoodie

Eur J Hum Genet. 2010 Jun; 18(6): 674–679. Published online 2010 Jan 20. doi: 10.1038/ejhg.2009.241

PMCID:: PMC2987349

Abstract Article PDF–430K

Select item 24272307.

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

Alberto S. Cornier, Karen Staehling-Hampton, Kym M. Delventhal, Yumiko Saga, Jean-Francois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon E. Carlo, Jose Torres, John B. Emans, Peter D. Turnpenny, Olivier Pourquié

Am J Hum Genet. 2008 Jun 6; 82(6): 1334–1341. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.04.014

PMCID:: PMC2427230

Abstract Article PDF–911K

Select item 21714288.

The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands

Ena Ladi, James T. Nichols, Weihong Ge, Alison Miyamoto, Christine Yao, Liang-Tung Yang, Jim Boulter, Yi E. Sun, Chris Kintner, Gerry Weinmaster

J Cell Biol. 2005 Sep 12; 170(6): 983–992. doi: 10.1083/jcb.200503113

PMCID:: PMC2171428

Abstract Article PDF–1.6M

Select item 13780889.

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

P D Turnpenny, M P Bulman, T M Frayling, T K Abu-Nasra, C Garrett, A T Hattersley, S Ellard

Am J Hum Genet. 1999 Jul; 65(1): 175–182. doi: 10.1086/302464

PMCID:: PMC1378088

Summary PDF–489K

Select item 118208810.

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters, David Sillence, Sian Ellard, Sally L. Dunwoodie, Peter D. Turnpenny

Am J Hum Genet. 2004 Jun; 74(6): 1249–1254. Published online 2004 Apr 30. doi: 10.1086/421053

PMCID:: PMC1182088

Abstract Article PDF–263K

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