PMC Links for Books (Select 4330530) - PMC

Select item 77010061.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B

Yelena Dokic, Yasser Albahrani, Thuy Phung, Kalyani Patel, Marietta de Guzman, Paula Hertel, Raegan Hunt

JAAD Case Rep. 2020 Dec; 6(12): 1217–1220. Published online 2020 Oct 10. doi: 10.1016/j.jdcr.2020.09.025

PMCID:: PMC7701006

Article PDF–961K

Select item 53589012.

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

Raphaëlle Goussot, Megana Prasad, Corinne Stoetzel, Cédric Lenormand, Hélène Dollfus, Dan Lipsker

JAAD Case Rep. 2017 Mar; 3(2): 143–150. Published online 2017 Mar 19. doi: 10.1016/j.jdcr.2017.01.002

PMCID:: PMC5358901

Article PDF–882K

Select item 48417543.

FAM111B MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION

Aaron Seo, Tom Walsh, Ming Lee, Phoenix Ho, Evelyn Kanyu Hsu, Robert Sidbury, Mary-Claire King, Akiko Shimamura

Pancreas. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Pancreas. 2016 Jul; 45(6): 858–862. doi: 10.1097/MPA.0000000000000529

PMCID:: PMC4841754

Abstract Article PDF–451K

Select item 47319254.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 46081805.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou-Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, Brigitte Chabrol, Valérie Cormier-Daire, Albert David, Bruno Eymard, Laurence Faivre, Dominique Figarella-Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israël-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, Stéphanie Mallet, Stuart MacGowan, Maeve A. McAleer, Irwin McLean, Cécile Méni, Arnold Munnich, Jean-Marie Mussini, Peter L. Nagy, Jeffrey Odel, Grainne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, Eve Puzenat, Jacinda B. Sampson, Frances Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, Sébastien Barbarot, Stéphane Bézieau

Orphanet J Rare Dis. 2015; 10: 135. Published online 2015 Oct 15. doi: 10.1186/s13023-015-0352-4

PMCID:: PMC4608180

Abstract Article PDF–2.6M

Select item 45950136.

Uncovering Hidden Layers of Cell Cycle Regulation through Integrative Multi-omic Analysis

Ranen Aviner, Anjana Shenoy, Orna Elroy-Stein, Tamar Geiger

PLoS Genet. 2015 Oct; 11(10): e1005554. Published online 2015 Oct 6. doi: 10.1371/journal.pgen.1005554

PMCID:: PMC4595013

Abstract Article PDF–3.5M

Select item 38530047.

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou-Hanna, Nathalie Bodak, Valérie Cormier-Daire, Albert David, Laurence Faivre, Dominique Figarella-Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Munnich, Jean-Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort-Campana, Mauro Santibanez-Koref, Christel Thauvin, Sébastien Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi

Am J Hum Genet. 2013 Dec 5; 93(6): 1100–1107. doi: 10.1016/j.ajhg.2013.10.013

PMCID:: PMC3853004

Abstract Article PDF–1.6M

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