PMC Links for Nucleotide (Select 1227523220) - PMC

Select item 55572761.

15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

J Med Genet. Author manuscript; available in PMC 2017 Aug 15.

Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436

PMCID:: PMC5557276

Abstract Article PDF–786K

Select item 35225872.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 35097893.

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

Su Kyoung Kim, Asako Shindo, Tae Joo Park, Edwin C. Oh, Srimoyee Ghosh, Ryan S. Gray, Richard A. Lewis, Colin A. Johnson, Tania Attie-Bittach, Nicholas Katsanis, John B. Wallingford

Science. Author manuscript; available in PMC 2012 Nov 29.

Published in final edited form as: Science. 2010 Sep 10; 329(5997): 1337–1340. Published online 2010 Jul 29. doi: 10.1126/science.1191184

PMCID:: PMC3509789

Abstract Article PDF–2.9M

Select item 31760754.

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

Jianjun Chen, Nizar Smaoui, Monia Ben Hamed Hammer, Xiaodong Jiao, S. Amer Riazuddin, Shyana Harper, Nicholas Katsanis, Sheikh Riazuddin, Habiba Chaabouni, Eliot L. Berson, J. Fielding Hejtmancik

Invest Ophthalmol Vis Sci. 2011 Jul; 52(8): 5317–5324. Published online 2011 Jul 18. doi: 10.1167/iovs.11-7554

PMCID:: PMC3176075

Abstract Article PDF–1.6M

Select item 14495785.

The WD40 Repeat Protein Fritz Links Cytoskeletal Planar Polarity to Frizzled Subcellular Localization in the Drosophila Epidermis

Simon Collier, Haeryun Lee, Rosemary Burgess, Paul Adler

Genetics. 2005 Apr; 169(4): 2035–2045. doi: 10.1534/genetics.104.033381

PMCID:: PMC1449578

Abstract Article PDF–878K

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