PMC Links for Books (Select 1499264) - 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 47319252.

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 45447533.

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 41058504.

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 31222665.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R. Wilcox, Dietmar Müller, Paige B. Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William Newman, Kay Metcalfe, Jill Clayton-Smith, May Tassabehji, Beat Steinmann, Francis A. Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos

Nat Genet. Author manuscript; available in PMC 2011 Jun 24.

Published in final edited form as: Nat Genet. 2008 Dec; 40(12): 1410–1412. Published online 2008 Nov 9. doi: 10.1038/ng.252

PMCID:: PMC3122266

Abstract Article PDF–285K

Select item 14741036.

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

Select item 11803617.

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Dessislava Markova, Yaqun Zou, Franziska Ringpfeil, Takako Sasaki, Günter Kostka, Rupert Timpl, Jouni Uitto, Mon-Li Chu

Am J Hum Genet. 2003 Apr; 72(4): 998–1004. Published online 2003 Feb 28. doi: 10.1086/373940

PMCID:: PMC1180361

Abstract Article PDF–424K

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