PMC Links for Books (Select 4952722) - PMC

Select item 61756471.

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia

Eli B. Cadoff, Ruth Sheffer, Shlomo Wientroub, Dror Ovadia, Vardiella Meiner, Jean E. Schwarzbauer

Clin Genet. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Clin Genet. 2018 Nov; 94(5): 429–437. Published online 2018 Sep 3. doi: 10.1111/cge.13424

PMCID:: PMC6175647

Article PDF–1.6M

Select item 56736542.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L. Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T. McDonald, Mariana I. Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T. Lu, Baylor-Hopkins Center for Mendelian Genomics, Dan H. Cohn, Marco Tartaglia, Brendan H. Lee, Dieter P. Reinhardt, Philippe M. Campeau

Am J Hum Genet. 2017 Nov 2; 101(5): 815–823. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.019

PMCID:: PMC5673654

Article PDF–2.0M

Select item 53156103.

Corner Fracture Type Spondylometaphyseal Dysplasia: Overlap with Type II Collagenopathies

Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T. Lu, Alyssa Tran, Yuqing Chen, Alan Schlesinger, Richard Gibbs, Luisa Bonafe, Ana Belinda Campos Xavier, Sheila Unger, Andrea Superti-Furga, Brendan H. Lee, Philippe M. Campeau, Lindsay C. Burrage

Am J Med Genet A. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Am J Med Genet A. 2017 Mar; 173(3): 733–739. Published online 2016 Nov 26. doi: 10.1002/ajmg.a.38059

PMCID:: PMC5315610

Article PDF–305K

Select item 49402504.

Identifying non-accidental fractures in children aged <2 years

Laura A. Leaman, William L. Hennrikus, James J. Bresnahan

J Child Orthop. 2016 Aug; 10(4): 335–341. Published online 2016 Jun 23. doi: 10.1007/s11832-016-0755-3

Correction in:: J Child Orthop. 2016 Oct; 10(5): 467.

PMCID:: PMC4940250

Article PDF–605K

Select item 47319255.

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

Article PDF–1.6M

Select item 44566916.

Skeletal Dysplasias

Deborah Krakow

Clin Perinatol. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Clin Perinatol. 2015 Jun; 42(2): 301–319. Published online 2015 Apr 8. doi: 10.1016/j.clp.2015.03.003

PMCID:: PMC4456691

Article PDF–1.5M

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