PMC Articles for MedGen (Select 957516) - PMC

Select item 61890441.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Brigitte Gilbert-Dussardier, Alice Goldenberg, Alex Henderson, Bertrand Isidor, Hulya Kayserili, Esther Kinning, Martine Le Merrer, Stanislas Lyonnet, Sylvie Odent, Pelin Ozlem Simsek-Kiper, Chloé Quelin, Ravi Savarirayan, Marleen Simon, Miranda Splitt, Judith M.A. Verhagen, Alain Verloes, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

Eur J Hum Genet. 2018 Nov; 26(11): 1611–1622. Published online 2018 Jul 13. doi: 10.1038/s41431-018-0135-1

PMCID:: PMC6189044

Article PDF–1.1M

Select item 57856442.

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster

J Clin Res Pediatr Endocrinol. 2017 Dec; 9(4): 360–365. Published online 2017 Dec 15. doi: 10.4274/jcrpe.4488

PMCID:: PMC5785644

Article PDF–675K

Select item 46460273.

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

Yara Rhayem, Catherine Le Stunff, Waed Abdel Khalek, Colette Auzan, Jerome Bertherat, Agnès Linglart, Alain Couvineau, Caroline Silve, Eric Clauser

J Biol Chem. 2015 Nov 13; 290(46): 27816–27828. Published online 2015 Sep 24. doi: 10.1074/jbc.M115.656553

PMCID:: PMC4646027

Article PDF–2.6M

Select item 41597934.

The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis

Nan Li, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Chunlin Li, Weibo Xia

Int J Mol Sci. 2014 Aug; 15(8): 13267–13274. Published online 2014 Jul 29. doi: 10.3390/ijms150813267

PMCID:: PMC4159793

Article PDF–4.0M

Select item 33222245.

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Hane Lee, John M. Graham, Jr., David L. Rimoin, Ralph S. Lachman, Pavel Krejci, Stuart W. Tompson, Stanley F. Nelson, Deborah Krakow, Daniel H. Cohn

Am J Hum Genet. 2012 Apr 6; 90(4): 746–751. doi: 10.1016/j.ajhg.2012.03.004

PMCID:: PMC3322224

Article PDF–396K

Select item 33222196.

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne-Marie Guerrot, Philippe Flahaut, Alice Duncombe, Genevieve Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschke, Jean-Laurent Casanova, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2012 Apr 6; 90(4): 740–745. doi: 10.1016/j.ajhg.2012.03.003

PMCID:: PMC3322219

Article PDF–253K

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