PMC Articles for MedGen (Select 870624) - PMC

Select item 80046471.

Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients

Yujie Han, Weihao Shao, Dan Zhong, Cui Ma, Xiaona Wei, Abrar Ahmed, Tingting Yu, Wei Jing, Lili Jing

Biomolecules. 2021 Mar; 11(3): 480. Published online 2021 Mar 23. doi: 10.3390/biom11030480

PMCID:: PMC8004647

Article PDF–4.1M

Select item 70315892.

Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report

Michele A Tchio Tchoumba, Yan Bai, Runming Jin, Xianying Yu, Musa Male

Orthop Surg. 2020 Feb; 12(1): 333–336. Published online 2019 Dec 6. doi: 10.1111/os.12546

PMCID:: PMC7031589

Article PDF–1.6M

Select item 39519453.

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2014 Mar 6; 94(3): 405–414. doi: 10.1016/j.ajhg.2014.01.020

PMCID:: PMC3951945

Article PDF–939K

Select item 28779514.

Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation

Pablo Villavicencio-Lorini, Pia Kuss, Julia Friedrich, Julia Haupt, Muhammed Farooq, Seval Türkmen, Denis Duboule, Jochen Hecht, Stefan Mundlos

J Clin Invest. 2010 Jun 1; 120(6): 1994–2004. Published online 2010 May 10. doi: 10.1172/JCI41554

PMCID:: PMC2877951

Article PDF–8.4M

Select item 26735455.

Synovial Joint Formation during Mouse Limb Skeletogenesis: Roles of Indian Hedgehog Signaling

Eiki Koyama, Takanaga Ochiai, Ryan B. Rountree, David M. Kingsley, Motomi Enomoto-Iwamoto, Masahiro Iwamoto, Maurizio Pacifici

Ann N Y Acad Sci. Author manuscript; available in PMC 2009 Apr 27.

Published in final edited form as: Ann N Y Acad Sci. 2007 Nov; 1116: 100–112. doi: 10.1196/annals.1402.063

PMCID:: PMC2673545

Article PDF–483K

Select item 26679786.

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

Am J Hum Genet. 2009 Mar 13; 84(3): 307–315. doi: 10.1016/j.ajhg.2009.01.021

PMCID:: PMC2667978

Article PDF–757K

Select item 17354927.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

M Rio, L Clech, J Amiel, L Faivre, S Lyonnet, M Le Merrer, S Odent, D Lacombe, P Edery, R Brauner, O Raoul, P Gosset, M Prieur, M Vekemans, A Munnich, L Colleaux, V Cormier-Daire

J Med Genet. 2003 Jun; 40(6): 436–440. doi: 10.1136/jmg.40.6.436

PMCID:: PMC1735492

Summary PDF–167K

Select item 11405968.

Connexin 40, a Target of Transcription Factor Tbx5, Patterns Wrist, Digits, and Sternum

Anne Pizard, Patrick G. Burgon, David L. Paul, Benoit G. Bruneau, Christine E. Seidman, J. G. Seidman

Mol Cell Biol. 2005 Jun; 25(12): 5073–5083. doi: 10.1128/MCB.25.12.5073-5083.2005

PMCID:: PMC1140596

Article PDF–1.2M

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