PMC Links for Books (Select 3306904) - PMC

Select item 97482971.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muiño-Mosquera, Elif Yilmaz Gulec, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, Helen Bornaun, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Walter P. Devine, Balram Gangaram, Allison Tam, Meena Balasubramanian, Sian Ellard, Sandra Moore, Sofie Symoens, Joseph Shen, Stacey Cole, Ulrike Schwarze, Kathryn W. Holmes, Susan J. Hayflick, Wojciech Wiszniewski, Sheela Nampoothiri, Elaine C. Davis, Lynn Y. Sakai, Gerhard Sengle, Bert Callewaert

Am J Hum Genet. 2022 Dec 1; 109(12): 2230–2252. Published online 2022 Nov 8. doi: 10.1016/j.ajhg.2022.10.010

PMCID:: PMC9748297

Abstract Article PDF–8.5M

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 63783694.

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

Abstract Article PDF–449K

Select item 62313135.

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome

Dr. M Kocova, R Kacarska, K Kuzevska-Maneva, S Prijic, M Lazareska, C Dordoni, M Ritelli, M Colombi

Balkan J Med Genet. 2018 Jun; 21(1): 47–52. Published online 2018 Oct 29. doi: 10.2478/bjmg-2018-0009

PMCID:: PMC6231313

Abstract Article PDF–1.7M

Select item 52073166.

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Josephina A.N. Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc M. Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L. Loeys

Genet Med. 2017 Apr; 19(4): 386–395. Published online 2016 Sep 15. doi: 10.1038/gim.2016.126

PMCID:: PMC5207316

Abstract Article PDF–2.5M

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 41058508.

COMPREHENSIVE CLINICAL AND MOLECULAR ANALYSIS OF 12 FAMILIES WITH TYPE 1 RECESSIVE CUTIS LAXA

Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G.H. Lee, Aicha Salhi, Sheila Unger, Ketil Heimdal, Salome De Almeida, Uwe Kornak, Harald Gaspar, Jean-Luc Bresson, Katrina Prescott, Maria E. Gosendi, Sahar Mansour, Gérald E. Piérard, Suneeta Madan-Khetarpal, Frank C. Sciurba, Sofie Symoens, Paul J Coucke, Lionel Van Maldergem, Zsolt Urban, Anne De Paepe

Hum Mutat. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 111–121. Published online 2012 Aug 13. doi: 10.1002/humu.22165

PMCID:: PMC4105850

Abstract Article PDF–4.1M

Select item 29873909.

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Marjolijn Renard, Tammy Holm, Regan Veith, Bert L Callewaert, Lesley C Adès, Osman Baspinar, Angela Pickart, Majed Dasouki, Juliane Hoyer, Anita Rauch, Pamela Trapane, Michael G Earing, Paul J Coucke, Lynn Y Sakai, Harry C Dietz, Anne M De Paepe, Bart L Loeys

Eur J Hum Genet. 2010 Aug; 18(8): 895–901. Published online 2010 Apr 14. doi: 10.1038/ejhg.2010.45

PMCID:: PMC2987390

Abstract Article PDF–616K

Select item 147410310.

Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urban

Am J Hum Genet. 2006 Jun; 78(6): 1075–1080. Published online 2006 Apr 10. doi: 10.1086/504304

PMCID:: PMC1474103

Abstract Article PDF–2.7M

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