PMC Articles for MedGen (Select 481529) - PMC

Select item 3394841.

A new member of the plasma protease inhibitor gene family.

H Ragg

Nucleic Acids Res. 1986 Jan 24; 14(2): 1073–1088. doi: 10.1093/nar/14.2.1073

PMCID:: PMC339484

Select item 45732702.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

Am J Hum Genet. 2015 Aug 6; 97(2): 311–318. doi: 10.1016/j.ajhg.2015.06.003

Correction in:: Am J Hum Genet. 2015 Aug 6; 97(2): 353.

PMCID:: PMC4573270

Abstract Article PDF–1.4M

Select item 36748363.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

Nat Genet. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Nat Genet. 2011 Jun; 43(6): 601–606. Published online 2011 May 8. doi: 10.1038/ng.826

PMCID:: PMC3674836

Abstract Article PDF–1.2M

Select item 27519774.

The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation

Alexander Dammermann, Hayley Pemble, Brian J. Mitchell, Ian McLeod, John R. Yates, III, Chris Kintner, Arshad B. Desai, Karen Oegema

Genes Dev. 2009 Sep 1; 23(17): 2046–2059. doi: 10.1101/gad.1810409

PMCID:: PMC2751977

Abstract Article PDF–1.9M

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