PMC Links for Books (Select 1471786) - PMC

Select item 65216591.

Persistent great artery dilatation in Beals syndrome: A novel finding

Saira Siddiqui, Laurie Panesar

Ann Pediatr Cardiol. 2019 May-Aug; 12(2): 150–152. doi: 10.4103/apc.APC_8_19

PMCID:: PMC6521659

Select item 63783692.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan F. Scott, P. Dane Witmer, Lesley C. Adès, Gregor U. Andelfinger, Pauline Arnaud, Catherine Boileau, Bert L. Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart L. Loeys, Dianna M. Milewicz, Julie De Backer

J Am Coll Cardiol. Author manuscript; available in PMC 2019 Feb 18.

Published in final edited form as: J Am Coll Cardiol. 2018 Aug 7; 72(6): 605–615. doi: 10.1016/j.jacc.2018.04.089

PMCID:: PMC6378369

Article PDF–449K

Select item 51358093.

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li

BMC Med Genet. 2016; 17: 91. Published online 2016 Dec 3. doi: 10.1186/s12881-016-0355-6

PMCID:: PMC5135809

Article PDF–5.7M

Select item 50209944.

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Virendra Mehar, Dinesh Yadav, Ravindra Kumar, Summi Yadav, Kuldeep Singh, Bert Callewaert, Shahnawaz Pathan, Anne De Paepe, Paul J. Coucke

J Pediatr Genet. 2014 Sep; 3(3): 163–166. doi: 10.3233/PGE-14093

PMCID:: PMC5020994

Summary PDF–287K

Select item 43599735.

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly

Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang

FEBS Open Bio. 2015; 5: 163–166. Published online 2015 Mar 5. doi: 10.1016/j.fob.2015.02.005

PMCID:: PMC4359973

Article PDF–1.2M

Select item 32147626.

Establishment of fibrillin-deficient osteoprogenitor cell lines identifies molecular abnormalities associated with extracellular matrix perturbation of osteogenic differentiation

Silvia Smaldone, Luca Carta, Francesco Ramirez

Cell Tissue Res. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Cell Tissue Res. 2011 Jun; 344(3): 511–517. Published online 2011 May 3. doi: 10.1007/s00441-011-1167-9

PMCID:: PMC3214762

Article PDF–1.7M

Select item 31016027.

Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation

Harikiran Nistala, Sui Lee-Arteaga, Silvia Smaldone, Gabriella Siciliano, Luca Carta, Robert N. Ono, Gerhard Sengle, Emilio Arteaga-Solis, Regis Levasseur, Patricia Ducy, Lynn Y. Sakai, Gerard Karsenty, Francesco Ramirez

J Cell Biol. 2010 Sep 20; 190(6): 1107–1121. doi: 10.1083/jcb.201003089

PMCID:: PMC3101602

Article PDF–3.6M

Select item 30529838.

Fibrillins 1 and 2 Perform Partially Overlapping Functions during Aortic Development

Luca Carta, Lygia Pereira, Emilio Arteaga-Solis, Sui Y. Lee-Arteaga, Brett Lenart, Barry Starcher, Christian A. Merkel, Marina Sukoyan, Alexander Kerkis, Noriko Hazeki, Douglas R. Keene, Lynn Y. Sakai, Francesco Ramirez

J Biol Chem. Author manuscript; available in PMC 2011 Mar 10.

Published in final edited form as: J Biol Chem. 2006 Mar 24; 281(12): 8016–8023. Published online 2005 Dec 28. doi: 10.1074/jbc.M511599200

PMCID:: PMC3052983

Article PDF–2.0M

Select item 27349649.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, B L Loeys, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, J E Wolf, O Bouchot, P Khau-Van-Kien, C Beroud, M Claustres, C Bonithon-Kopp, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, G Jondeau, C Boileau

Eur J Hum Genet. 2009 Apr; 17(4): 491–501. Published online 2008 Nov 12. doi: 10.1038/ejhg.2008.207

PMCID:: PMC2734964

Article PDF–223K

Select item 191485010.

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

M. Wang, C. L. Clericuzio, M. Godfrey

Am J Hum Genet. 1996 Nov; 59(5): 1027–1034.

PMCID:: PMC1914850

Summary Page Browse PDF–2.0M

Select item 171245711.

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

E A Putnam, E S Park, C M Aalfs, R C Hennekam, D M Milewicz

Am J Hum Genet. 1997 Apr; 60(4): 818–827.

PMCID:: PMC1712457

Summary Page Browse PDF–2.0M

Select item 159027312.

Cardiac anomalies complicating congenital contractural arachnodactyly.

A J Macnab, L D'Orsogna, D E Cole, P E Baguley, R J Adderley, M W Patterson

Arch Dis Child. 1991 Oct; 66(10 Spec No): 1143–1146. doi: 10.1136/adc.66.10_spec_no.1143

PMCID:: PMC1590273

Summary Page Browse PDF–1.4M

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